The data in the text box below can be copied and pasted into Microsoft Excel.
Make sure when pasting the data, "tabs" are selected as the column delimiter.
Content
SupTab1
SupTab2
SupTab3
SupTab4
SupTab5
SupTab6
SupTab7
SupTab8
SupTab9
A
B
C
D
E
F
G
H
I
J
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
Supplement data | |||||||||
Genetic association study of eight steroid hormones and implications for sexual dimorphism of coronary artery disease | |||||||||
Pott J, Bae YJ, Horn K et al. | |||||||||
Supplement Tables | |||||||||
SupTab 1 | Correlation Results | Correlation ECLIA - LC-MSMS; Sample sizes; Correlation hormones | |||||||
SupTab 2 | GWAS Toplist | ||||||||
SupTab 3 | GWAS eQTL-lookup of Table 2&3 SNPs | ||||||||
SupTab 4 | GWAS catalog-lookup of Table 2&3 SNPs | ||||||||
SupTab 5 | Sex-Interaction Test | ||||||||
SupTab 6 | GWAS candidates: candidate steroid loci | ||||||||
SupTab 7 | GWAS candidates: replication of steroid loci | ||||||||
SupTab 8 | GWAS candidates: CAD lookup | ||||||||
SupTab 9 | MR Results | ||||||||
A
B
C
D
E
F
G
H
I
J
K
L
M
N
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
Supplemental Table 1a) Correaltion analysis for methods ECLIA amd LC-MSMS in LIFE-Adult. Spearman's rank test applied. Only women were analyzed. | |||||||||||||
hormone | n | spearman rho | p-value | ||||||||||
TESTO | 419 | 0.71 | <0.001 | ||||||||||
E2 | 129 | 0.89 | <0.001 | ||||||||||
DHEAS | 445 | 0.95 | <0.001 | ||||||||||
Supplemental Table 1b): Sample sizes of LIFE-Heart, LIFE-Adult and the combined analyses for analysis modus ALL, MEN and WOMEN. | |||||||||||||
b) | LIFE-Heart | LIFE-Adult | combined | ||||||||||
steroid hormone | ALL | MEN | WOMEN | ALL | MEN | WOMEN | ALL | MEN | WOMEN | ||||
CORT | 2070 | 1358 | 712 | 5597 | 2943 | 2654 | 7667 | 4301 | 3366 | ||||
DHEAS | 2070 | 1358 | 712 | 5589 | 2943 | 2646 | 7659 | 4301 | 3358 | ||||
TESTO | 2070 | 1358 | 712 | 5573 | 2933 | 2640 | 7643 | 4291 | 3352 | ||||
E2 | 1860 | 1239 | 621 | 4938 | 2952 | 1986 | 6798 | 4191 | 2607 | ||||
PROG | 2070 | 1358 | 712 | 549 | 2070 | 1358 | 1261 | ||||||
17-OHP | 2070 | 1358 | 712 | 2070 | 1358 | 712 | |||||||
ANDRO | 2070 | 1358 | 712 | 2070 | 1358 | 712 | |||||||
ALDO | 1993 | 1307 | 686 | 1993 | 1307 | 686 | |||||||
Supplemental Table 1c): Within-study correlation of the used steroid hormons. Spearman's rank correlation was applied. Correlation analyses were performed in ALL, MEN and WOMEN. Significant correlations are colored red (p<0.05). | |||||||||||||
c) | LIFE-HEART | LIFE-Adult | |||||||||||
hormon i | hormon j | r ALL | pval ALL | r MEN | pval MEN | r WOMEN | pval WOMEN | r ALL | pval ALL | r MEN | pval MEN | r WOMEN | pval WOMEN |
PROG | CORT | 0.22074161 | <0.001 | 0.2450436 | <0.001 | 0.189032254 | <0.001 | 0.155247017 | 0.001256554 | ||||
E2 | CORT | -0.03713844 | 0.1093 | -0.039746575 | 0.1621 | -0.058457529 | 0.1457 | 0.03111601 | 0.02890692 | -0.06489648 | <0.001 | -0.059735526 | 0.007811673 |
DHEAS | CORT | 0.07139557 | 0.0012 | 0.076044 | 0.0051 | 0.07239222 | 0.0051 | 0.09897996 | <0.001 | 0.09591042 | <0.001 | 0.03286918 | 0.09070256 |
E2 | PROG | 0.18365596 | <0.001 | 0.085638636 | 0.0026 | 0.158854332 | <0.001 | 0.004598856 | 0.9320749 | ||||
TESTO | CORT | 0.03446559 | 0.117 | 0.005028213 | 0.8531 | 0.16571676 | <0.001 | 0.1476409 | <0.001 | 0.02527848 | 0.1703813 | 0.1613698 | <0.001 |
E2 | DHEAS | 0.1384493 | <0.001 | -0.048539447 | 0.0877 | 0.157264774 | <0.001 | 0.32471561 | <0.001 | -0.01501395 | 0.4150563 | 0.182868126 | <0.001 |
DHEAS | PROG | 0.19561174 | <0.001 | 0.132429064 | <0.001 | 0.20989092 | <0.001 | 0.33814397 | <0.001 | ||||
TESTO | PROG | 0.22003467 | <0.001 | 0.169039191 | <0.001 | 0.20730762 | <0.001 | 0.1773084 | <0.001 | ||||
TESTO | DHEAS | 0.28016023 | <0.001 | -0.003013129 | 0.9117 | 0.34662266 | <0.001 | 0.4136335 | 0.06069065 | <0.001 | 0.5831732 | <0.001 | |
E2 | TESTO | 0.50266793 | <0.001 | 0.302722162 | <0.001 | 0.111597434 | 0.0054 | 0.69504175 | <0.001 | 0.29189251 | <0.001 | 0.23323751 | <0.001 |
TESTO | ALDO | -0.01963063 | 0.3811 | -0.050499746 | 0.068 | 0.01434253 | 0.7077 | ||||||
DHEAS | ALDO | 0.01195215 | 0.5939 | 0.00551266 | 0.8422 | 0.0271477 | 0.8422 | ||||||
PROG | ALDO | 0.01249697 | 0.5771 | 0.01659016 | 0.549 | -0.002017921 | 0.9579 | ||||||
E2 | ALDO | 0.01401824 | 0.5465 | 0.006662448 | 0.8152 | -0.008999006 | 0.823 | ||||||
17-OHP | ALDO | 0.04244963 | 0.0581 | 0.01628787 | 0.5563 | 0.08160071 | 0.0326 | ||||||
CORT | ALDO | 0.07064875 | 0.0016 | 0.080941377 | 0.0034 | 0.0510758 | 0.1815 | ||||||
ANDRO | ALDO | 0.09344553 | <0.001 | 0.1147304 | <0.001 | 0.06224259 | 0.1033 | ||||||
17-OHP | CORT | 0.20494148 | <0.001 | 0.17283659 | <0.001 | 0.45073089 | <0.001 | ||||||
E2 | ANDRO | 0.21868986 | <0.001 | 0.107833072 | <0.001 | 0.164245137 | <0.001 | ||||||
17-OHP | DHEAS | 0.25060668 | <0.001 | 0.0464823 | 0.0868 | 0.17285562 | <0.001 | ||||||
TESTO | ANDRO | 0.32515188 | <0.001 | 0.171341157 | <0.001 | 0.56698618 | <0.001 | ||||||
ANDRO | PROG | 0.35763623 | <0.001 | 0.3088505 | <0.001 | 0.36533597 | <0.001 | ||||||
E2 | 17-OHP | 0.37189008 | <0.001 | 0.121158568 | <0.001 | 0.103496759 | 0.0099 | ||||||
ANDRO | CORT | 0.40179684 | <0.001 | 0.4092078 | <0.001 | 0.41598091 | <0.001 | ||||||
17-OHP | PROG | 0.4608033 | <0.001 | 0.45783111 | <0.001 | 0.43083307 | <0.001 | ||||||
ANDRO | 17-OHP | 0.49006453 | <0.001 | 0.3752697 | <0.001 | 0.65456122 | <0.001 | ||||||
ANDRO | DHEAS | 0.51609266 | <0.001 | 0.4582237 | <0.001 | 0.54452933 | <0.001 | ||||||
TESTO | 17-OHP | 0.70727209 | <0.001 | 0.465784634 | <0.001 | 0.43037347 | <0.001 | ||||||
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
AA
AB
AC
AD
AE
AF
AG
AH
AI
AJ
AK
AL
AM
AN
AO
AP
AQ
AR
AS
AT
AU
AV
AW
AX
AY
AZ
BA
BB
BC
BD
BE
BF
BG
BH
BI
BJ
BK
BL
BM
BN
BO
BP
BQ
BR
BS
BT
BU
BV
BW
BX
BY
BZ
CA
CB
CC
CD
CE
CF
CG
CH
CI
CJ
CK
CL
CM
CN
CO
CP
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
Supplemental Table 2: Toplist of all SNPs with genome-wide significance after pruning (r²>0.5), with MAF>1%, info>0.8 (and p(Q)>0.1 for meta-analyzed SNPs). Column "#SNPs in LD" counts all SNPs in LD (r²>0.5) and with p<10^-6. Lead SNPs are marked yellow. Columns with -logp values are color-coded: red genome-wide significant, yellow suggestive significant, green nominal significant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNP INFO | top phenotype | Annotation with nearby genes, eQTLs in LD, known traits of other GWAS, and pathway enrichment | PROG ALL | PROG MEN | PROG WOMEN | 17-OHP ALL | 17-OHP MEN | 17-OHP WOMEN | ANDRO ALL | ANDRO MEN | ANDRO WOMEN | DHEAS ALL | DHEAS MEN | DHEAS WOMEN | TESTO ALL | TESTO MEN | TESTO WOMEN | E2 ALL | E2 MEN | E2 WOMEN | CORT ALL | CORT MEN | CORT WOMEN | ALDO ALL | ALDO MEN | ALDO WOMEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNP | status | chr | position | Cytoband | EA | OA | info-score | #SNPs in LD | phenotype | N | log-p | EAF | Cochran's Q | nearest genes (functional relevance) | correlating GWAS | cis-eQTL genes | trans-eQTL genes | KEGG pathway | Reactome pathway | DOSE pathway | GO pathway | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p |
7:99025328:C:T | known [9, 10] | 7 | 99025328 | 7q22.1 | T | C | 0.983 | 8 | DHEAS ALL | 7659 | 27.8599919032424 | 0.0351457109283196 | 0.042833 | PTCD1 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER); ATP5J2-PTCD1 (0 kb, intron/Intron/MODIFIER); BUD31 (8.1 kb); CPSF4 (11 kb); PDAP1 (19 kb); ATP5J2 (21 kb); ARPC1B (33 kb); ARPC1A (40 kb); ZNF789 (45 kb) | 0.888 Blood protein levels // 0.855 Sex hormone levels // 0.855 Total body bone mineral density (age over 60) // 0.855 Total body bone mineral density // 0.855 Femoral neck bone mineral density // 0.855 Lumbar spine bone mineral density // 0.472 Blood metabolite levels // 0.401 Dehydroepiandrosterone sulphate levels // 0.385 Diffuse cutaneous systemic sclerosis // 0.385 Blood metabolite ratios // 0.302 Metabolic traits // 0.302 Estrone levels | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | MEPCE | NYAP1 | OR2AE1 | PDAP1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | ZSCAN21 | RRAGA | Influenza A:CPSF4 | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Lysosome:AP4M1 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRB | EPHB-mediated forward signaling:ARPC1A,ARPC1B | EPH-Ephrin signaling:ARPC1A,ARPC1B | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | Influenza Infection:CPSF4 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | influenza:CPSF4 | specific developmental disorder:AP4M1 | cerebral palsy:AP4M1 | modulation by virus of host morphology or physiology:CPSF4 | modification by symbiont of host morphology or physiology:CPSF4 | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4 | modification of morphology or physiology of other organism:CPSF4 | protein localization to vacuole:AP4M1 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | interaction with host:CPSF4 | nucleocytoplasmic transport:CPSF4 | protein localization to lysosome:AP4M1 | nuclear transport:CPSF4 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | protein targeting to vacuole:AP4M1 | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | post-translational protein modification:COPS6 | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | positive regulation of protein complex assembly:ARPC1A,ARPC1B | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | 0.0665944 | 0.0432676 | 0.906837567942443 | 0.0533068 | 0.0389159 | 0.767059767346268 | 0.0363958 | 0.0851492 | 0.174533635580083 | 0.0112235 | 0.0476292 | 0.0895186050438858 | -0.0367422 | 0.0513199 | 0.324085161048934 | 0.111712 | 0.0972221 | 0.600447413394065 | 0.00130646 | 0.0355356 | 0.0129257081902594 | -0.0152203 | 0.0404334 | 0.150790720076652 | 0.0407439 | 0.0682398 | 0.259122779054721 | -0.303133 | 0.0273303 | 27.8599919032424 | -0.325069 | 0.0342714 | 20.6161110614346 | -0.274535 | 0.0435938 | 9.51951157354003 | 0.0281353 | 0.028764 | 0.484122184100859 | -0.0538194 | 0.0329102 | 0.99149350970019 | -0.0017787 | 0.0157073 | 0.0410349738619594 | -0.0154834 | 0.0203962 | 0.348941127336596 | 0.0149582 | 0.0244355 | 0.267252514690005 | 0.0825005 | 0.0715957 | 0.603221979291795 | 0.0985096 | 0.0891034 | 0.570055639642916 | 0.0510241 | 0.120591 | 0.172408466416079 | ||||||||||||
rs77356530:99019565:G:A | 7 | 99019565 | 7q22.1 | A | G | 0.812 | 2 | DHEAS ALL | 7659 | 18.9836269559386 | 0.017496996996997 | 0.0997051 | PTCD1 (0 kb, intron/Intron/MODIFIER); ATP5J2-PTCD1 (0 kb, intron/Intron/MODIFIER); BUD31 (2.3 kb, near gene/Downstream gene/MODIFIER); PDAP1 (13 kb); CPSF4 (17 kb); ATP5J2 (27 kb); ARPC1B (27 kb); ARPC1A (34 kb) | 0.49 Blood metabolite levels // 0.49 Blood metabolite ratios // 0.442 Blood protein levels // 0.405 Sex hormone levels // 0.405 Total body bone mineral density (age over 60) // 0.405 Total body bone mineral density // 0.405 Femoral neck bone mineral density // 0.405 Lumbar spine bone mineral density // 0.3 Metabolic traits // 0.3 Dehydroepiandrosterone sulphate levels // 0.3 Estrone levels | - | AP4M1 | ARPC1B | ATP5J2 | C7orf59 | CNPY4 | COPS6 | CPSF4 | CYP3A7 | GS1-259H13.2 | LAMTOR4 | MEPCE | NYAP1 | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | RP11-307C18.1 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | ZCWPW1 | ZKSCAN5 | ZNHIT1 | ZSCAN21 | Influenza A:CPSF4 | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | EPHB-mediated forward signaling:ARPC1A,ARPC1B | EPH-Ephrin signaling:ARPC1A,ARPC1B | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | Influenza Infection:CPSF4 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | influenza:CPSF4 | modulation by virus of host morphology or physiology:CPSF4 | modification by symbiont of host morphology or physiology:CPSF4 | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4 | modification of morphology or physiology of other organism:CPSF4 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | interaction with host:CPSF4 | nucleocytoplasmic transport:CPSF4 | nuclear transport:CPSF4 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | positive regulation of protein complex assembly:ARPC1A,ARPC1B | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | 0.0774081 | 0.0663361 | 0.613711544387558 | 0.0728149 | 0.0575797 | 0.68563762897987 | -0.0105833 | 0.142001 | 0.0266001045472381 | 0.0461216 | 0.0729992 | 0.277710853276807 | 0.0016677 | 0.0759391 | 0.00767539756554741 | 0.174072 | 0.160468 | 0.555349489054664 | 0.0289086 | 0.0544647 | 0.225022707194905 | 0.0484298 | 0.0598075 | 0.378595202312351 | 0.00202106 | 0.112649 | 0.00625920881855314 | -0.385515 | 0.042435 | 18.9836269559386 | -0.395127 | 0.054245 | 12.489772784409 | -0.368652 | 0.0661692 | 7.59725385435719 | 0.04711 | 0.0452137 | 0.526602087682491 | -0.0728813 | 0.0417611 | 1.09177939144646 | -0.0539264 | 0.052341 | 0.518739440677241 | -0.117372 | 0.0653288 | 1.14030042607991 | -0.0172564 | 0.0242938 | 0.321021167011083 | -0.0433332 | 0.0318313 | 0.760933375141165 | 0.0147751 | 0.037272 | 0.160019442321657 | 0.0803994 | 0.109925 | 0.332902099523538 | 0.163476 | 0.133165 | 0.657948602214958 | -0.11058 | 0.195584 | 0.242603971206976 | ||||||||
rs111390579:99173193:TAC:TACACAC | 7 | 99173193 | 7q22.1 | TACACAC | TAC | 0.873 | 0 | DHEAS ALL | 7659 | 18.7201027402333 | 0.0278484123253688 | 0.104506 | ZNF655 (0 kb, 3'utr/3 prime UTR/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); GS1-259H13.10 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); FAM200A (17 kb); ZKSCAN5 (41 kb); ZSCAN25 (41 kb) | 0.511 Blood metabolite levels // 0.468 Platelet count | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | AZGP1 | BUD31 | C7orf43 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | EPHB4 | GAL3ST4 | GATS | GJC3 | GS1-259H13.2 | LRCH4 | MCM7 | MEPCE | MOSPD3 | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | RP11-44M6.1 | RP4-604G5.1 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | TRIP6 | TSC22D4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | ZSCAN21 | ZSCAN25 | FRMD3 | NINJ2 | PMS2 | RRAGA | USP3 | Herpes simplex infection:PILRA | Chemical carcinogenesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Influenza A:CPSF4 | Metabolism of xenobiotics by cytochrome P450:CYP3A5 | Steroid hormone biosynthesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Drug metabolism - cytochrome P450:CYP3A5 | Retinol metabolism:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Lysosome:AP4M1 | Xenobiotics:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Biological oxidations:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Cytochrome P450 - arranged by substrate type:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Phase I - Functionalization of compounds:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | TP53 Regulates Transcription of DNA Repair Genes:PMS2 | EPHB-mediated forward signaling:ARPC1A,ARPC1B,EPHB4 | Aflatoxin activation and detoxification:CYP3A5 | EPH-Ephrin signaling:ARPC1A,ARPC1B,EPHB4 | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | Influenza Infection:CPSF4 | Transcriptional Regulation by TP53:PMS2 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | endocrine system disease:PMS2 | hyperaldosteronism:PMS2 | urinary system disease:CYP3A5 | multiple myeloma:CYP3A5,EPHB4 | myeloma:CYP3A5,EPHB4 | bone marrow cancer:CYP3A5,EPHB4 | kidney disease:CYP3A5 | ataxia telangiectasia:PMS2 | polycystic ovary syndrome:CYP3A7 | adrenal cortex disease:PMS2 | adrenal gland disease:PMS2 | prostate cancer:PMS2 | male reproductive organ cancer:PMS2 | influenza:CPSF4 | adrenal gland hyperfunction:PMS2 | toxic encephalopathy:CYP3A5 | specific developmental disorder:AP4M1 | autosomal recessive disease:PMS2 | cerebral palsy:AP4M1 | modulation by virus of host morphology or physiology:CPSF4 | modification by symbiont of host morphology or physiology:CPSF4 | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B,PVRIG | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4 | cellular response to xenobiotic stimulus:CYP3A5,CYP3A7 | response to xenobiotic stimulus:CYP3A5,CYP3A7 | antigen receptor-mediated signaling pathway:PVRIG | oxidative demethylation:CYP3A5 | drug catabolic process:CYP3A5 | modification of morphology or physiology of other organism:CPSF4 | protein localization to vacuole:AP4M1 | xenobiotic metabolic process:CYP3A5,CYP3A7 | ephrin receptor signaling pathway:ARPC1A,ARPC1B,EPHB4 | steroid metabolic process:CYP3A5,CYP3A7 | sulfur compound metabolic process:GAL3ST4 | interaction with host:CPSF4 | nucleocytoplasmic transport:CPSF4 | protein localization to lysosome:AP4M1 | nuclear transport:CPSF4 | drug metabolic process:CYP3A5 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | leukocyte homeostasis:TSC22D4 | protein targeting to vacuole:AP4M1 | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | response to drug:PMS2 | lipid modification:CYP3A5,CYP3A7 | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | demethylation:CYP3A5 | positive regulation of protein complex assembly:ARPC1A,ARPC1B | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | immunoglobulin production:PMS2 | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4,PMS2 | RNA phosphodiester bond hydrolysis:CPSF4 | negative regulation of immune system process:PVRIG,TSC22D4 | snRNA metabolic process:MEPCE | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | negative regulation of mitotic cell cycle phase transition:ZNF655 | blood vessel endothelial cell migration:EPHB4 | sprouting angiogenesis:EPHB4 | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | negative regulation of cell cycle phase transition:ZNF655 | 0.077732 | 0.050941 | 0.895574349802678 | 0.0702248 | 0.0449809 | 0.925523670500023 | 0.0508081 | 0.104313 | 0.203283469035072 | 0.0788288 | 0.0560495 | 0.796556414589765 | 0.0249894 | 0.0593376 | 0.171520560023435 | 0.210575 | 0.118493 | 1.11929785283807 | 0.0102243 | 0.0418368 | 0.0931501449286865 | -0.0138012 | 0.0467455 | 0.114720783412906 | 0.0752991 | 0.0832505 | 0.436466707478076 | -0.291854 | 0.0323613 | 18.7201027402333 | -0.284515 | 0.0406101 | 11.6104441119048 | -0.297282 | 0.0515701 | 8.0870189903457 | 0.0391475 | 0.033883 | 0.60565865799709 | -0.0547612 | 0.0314879 | 1.08611200610688 | -0.0566636 | 0.038949 | 0.836477857104897 | -0.0566712 | 0.0499826 | 0.590284923568968 | -0.00692527 | 0.0185409 | 0.149496511284011 | -0.0265398 | 0.0239763 | 0.571332387859685 | 0.017659 | 0.0289535 | 0.266064019300565 | 0.0819346 | 0.08447 | 0.478636978621514 | 0.136484 | 0.103095 | 0.731001041457326 | -0.041041 | 0.147886 | 0.107089356762517 | |||||||
rs10278040:99141373:G:A | 7 | 99141373 | 7q22.1 | A | G | 0.994 | 54 | DHEAS ALL | 7659 | 17.2104756933791 | 0.0544743047395221 | 0.0439519 | FAM200A (2.6 kb, near gene/Downstream gene/MODIFIER); ZKSCAN5 (9 kb); ZNF655 (15 kb); ZNF789 (40 kb); ZNF394 (43 kb) | 1 Blood metabolite levels // 0.64 Diffuse cutaneous systemic sclerosis // 0.64 Blood metabolite ratios // 0.612 Dehydroepiandrosterone sulphate levels // 0.608 Sex hormone levels // 0.597 Total body bone mineral density (age over 60) // 0.597 Total body bone mineral density // 0.597 Femoral neck bone mineral density // 0.597 Lumbar spine bone mineral density // 0.48 Blood protein levels // 0.397 Hand grip strength | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | MCM7 | MEPCE | MOSPD3 | NYAP1 | OR2AE1 | PDAP1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | SMURF1 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | RRAGA | Chemical carcinogenesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Influenza A:CPSF4 | Metabolism of xenobiotics by cytochrome P450:CYP3A5 | Steroid hormone biosynthesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Drug metabolism - cytochrome P450:CYP3A5 | Retinol metabolism:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Xenobiotics:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Biological oxidations:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Cytochrome P450 - arranged by substrate type:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Phase I - Functionalization of compounds:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRB | EPHB-mediated forward signaling:ARPC1A,ARPC1B | Aflatoxin activation and detoxification:CYP3A5 | mTORC1-mediated signalling:RRAGA | EPH-Ephrin signaling:ARPC1A,ARPC1B | Energy dependent regulation of mTOR by LKB1-AMPK:RRAGA | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | mTOR signalling:RRAGA | Influenza Infection:CPSF4 | Transcriptional Regulation by TP53:RRAGA | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Regulation of PTEN gene transcription:RRAGA | Macroautophagy:RRAGA | TP53 Regulates Metabolic Genes:RRAGA | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | urinary system disease:CYP3A5 | multiple myeloma:CYP3A5 | myeloma:CYP3A5 | bone marrow cancer:CYP3A5 | kidney disease:CYP3A5 | polycystic ovary syndrome:CYP3A7 | influenza:CPSF4 | toxic encephalopathy:CYP3A5 | modulation by virus of host morphology or physiology:CPSF4,RRAGA | modification by symbiont of host morphology or physiology:CPSF4,RRAGA | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4,RRAGA | cellular response to xenobiotic stimulus:CYP3A5,CYP3A7 | response to xenobiotic stimulus:CYP3A5,CYP3A7 | oxidative demethylation:CYP3A5 | drug catabolic process:CYP3A5 | modification of morphology or physiology of other organism:CPSF4,RRAGA | xenobiotic metabolic process:CYP3A5,CYP3A7 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | steroid metabolic process:CYP3A5,CYP3A7 | interaction with host:CPSF4,RRAGA | nucleocytoplasmic transport:CPSF4 | nuclear transport:CPSF4 | drug metabolic process:CYP3A5 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | positive regulation of TOR signaling:RRAGA | cellular response to amino acid starvation:RRAGA | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | post-translational protein modification:COPS6 | lipid modification:CYP3A5,CYP3A7 | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | demethylation:CYP3A5 | cellular response to amino acid stimulus:RRAGA | regulation of autophagy:RRAGA | positive regulation of protein complex assembly:ARPC1A,ARPC1B | negative regulation of autophagy:RRAGA | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | regulation of macroautophagy:RRAGA | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | negative regulation of cellular catabolic process:RRAGA | snRNA metabolic process:MEPCE | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | regulation of TOR signaling:RRAGA | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | autophagy:RRAGA | process utilizing autophagic mechanism:RRAGA | cytolysis:RRAGA | negative regulation of mitotic cell cycle phase transition:ZNF655 | negative regulation of catabolic process:RRAGA | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | negative regulation of cell cycle phase transition:ZNF655 | 0.0185085 | 0.0355734 | 0.21974319080788 | 0.00841224 | 0.0318349 | 0.101477207308833 | -0.00761317 | 0.0706005 | 0.0389934633825315 | -5.86034E-4 | 0.03914 | 0.00521887977301887 | -0.0408051 | 0.0419472 | 0.480380675146125 | 0.0801613 | 0.0807389 | 0.493327235143373 | -0.0329378 | 0.0291925 | 0.586153938724438 | -0.0538585 | 0.0330236 | 0.986564451555031 | 0.0100658 | 0.05667 | 0.0659709413678645 | -0.189853 | 0.0220003 | 17.2104756933791 | -0.190167 | 0.0272721 | 11.5081622442041 | -0.189366 | 0.0355939 | 6.98435527994763 | -0.0432698 | 0.0215849 | 1.34676239437946 | 0.0178116 | 0.0228089 | 0.361652535882764 | -0.0438867 | 0.0211287 | 1.42261276512508 | -0.0431868 | 0.0259836 | 1.01548618824893 | -0.00426086 | 0.0126219 | 0.13330986975104 | -0.0085497 | 0.016219 | 0.223229102091716 | 4.55559E-4 | 0.0198982 | 0.00800616799829703 | 0.0557562 | 0.0585423 | 0.467239253099908 | 0.0741286 | 0.072594 | 0.51232721953151 | 0.0234154 | 0.0992907 | 0.0895687764017753 | |||||||
rs145827824:32103749:C:G | novel1 | 6 | 32103749 | 6p21.32 | G | C | 0.991 | 122 | OHP17 ALL | 2070 | 15.6246729803774 | 0.0114659420289855 | FKBPL (5.7 kb); ATF6B (7.7 kb); PRRT1 (12 kb); PPT2 (17 kb); PPT2-EGFL8 (18 kb); TNXB (21 kb); EGFL8 (29 kb); AGPAT1 (32 kb); RNF5 (42 kb); AGER (45 kb); PBX2 (49 kb) | 0.489 Blood protein levels // 0.329 Blood metabolite levels // 0.31 Marginal zone lymphoma // 0.302 Economic and political preferences (environmentalism) // 0.302 Hepatitis B vaccine response | - | ABCF1 | ABHD16A | AGER | AIF1 | APOM | ATF6B | ATP6V1G2 | BAG6 | BRD2 | C4A | C4B | C4B 2 | C6orf10 | C6orf25 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | CUTA | CYP21A2 | DDAH2 | DDR1 | DDX39B | DOM3Z | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCP5 | HLA-B | HLA-C | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB1-AS1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-DRB9 | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | LY6G6E | MCCD1 | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NOTCH4 | PBX2 | PHF1 | PPP1R10 | PPT2 | PRRC2A | PRRT1 | PSMB8 | PSMB9 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TNF | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG254F23.6 | XXbac-BPG299F13.17 | ZBTB12 | ABP1 | CCDC69 | FLOT1 | HLA-E | HLA-F | HLA-H | HLA-V | IER3 | LIMS1 | LINC00243 | MDC1 | NHP2 | PPP1R11 | TRAV12-1 | VARS2 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Staphylococcus aureus infection:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Asthma:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phagosome:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Rheumatoid arthritis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Influenza A:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:ATF6B,HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:ATF6B,GTF2H4,HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L,LSM2 | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L,RNF5 | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C,TNXB | Proteasome:PSMB8,PSMB9 | TNF signaling pathway:ATF6B | Aminoacyl-tRNA biosynthesis:VARS2 | Lysosome:NEU1,PPT2 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | PD-1 signaling:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Generation of second messenger molecules:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Downstream TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8 | TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Costimulation by the CD28 family:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,PSMB8,PSMB9,TAP2 | Antigen processing-Cross presentation:HLA-C,PSMB8,PSMB9,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C,PSMB8 | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:GTF2H4,HSPA1A,HSPA1B,PSMB8,PSMB9 | TNFR2 non-canonical NF-kB pathway:PSMB8,PSMB9 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:GTF2H4 | HIV Infection:GTF2H4,PSMB8,PSMB9 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B,PSMB8,PSMB9 | Class I MHC mediated antigen processing & presentation:HLA-C,PSMB8,PSMB9,TAP2 | Transcriptional regulation by RUNX3:PSMB8,PSMB9 | HIV Transcription Elongation:GTF2H4 | Formation of HIV-1 elongation complex containing HIV-1 Tat:GTF2H4 | Tat-mediated elongation of the HIV-1 transcript:GTF2H4 | Formation of HIV elongation complex in the absence of HIV Tat:GTF2H4 | Vpu mediated degradation of CD4:PSMB8,PSMB9 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B,PSMB8,PSMB9 | SCF-beta-TrCP mediated degradation of Emi1:PSMB8,PSMB9 | NIK-->noncanonical NF-kB signaling:PSMB8,PSMB9 | Dectin-1 mediated noncanonical NF-kB signaling:PSMB8,PSMB9 | Degradation of GLI1 by the proteasome:PSMB8,PSMB9 | Degradation of GLI2 by the proteasome:PSMB8,PSMB9 | GLI3 is processed to GLI3R by the proteasome:PSMB8,PSMB9 | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Regulation of PTEN stability and activity:PSMB8,PSMB9 | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:PSMB8,PSMB9,RNF5 | Formation of RNA Pol II elongation complex :GTF2H4 | RNA Polymerase II Transcription Elongation:GTF2H4 | Formation of the Early Elongation Complex:GTF2H4 | Formation of the HIV-1 Early Elongation Complex:GTF2H4 | ABC-family proteins mediated transport:PSMB8,PSMB9,RNF5 | Activation of NF-kappaB in B cells:PSMB8,PSMB9 | G2/M Transition:FKBPL,PSMB8,PSMB9 | HIV Life Cycle:GTF2H4 | Mitotic G2-G2/M phases:FKBPL,PSMB8,PSMB9 | RNA Polymerase I Promoter Escape:GTF2H4,ZNRD1 | Transcription of the HIV genome:GTF2H4 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:GTF2H4 | RNA Polymerase I Transcription Termination:GTF2H4,ZNRD1 | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Initiation:GTF2H4,ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | The role of GTSE1 in G2/M progression after G2 checkpoint:FKBPL,PSMB8,PSMB9 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1 | Regulation of APC/C activators between G1/S and early anaphase:PSMB8,PSMB9 | ABC transporter disorders:PSMB8,PSMB9,RNF5 | Cyclin A:Cdk2-associated events at S phase entry:PSMB8,PSMB9 | Interleukin-1 family signaling:AGER,PSMB8,PSMB9 | Degradation of beta-catenin by the destruction complex:PSMB8,PSMB9 | FCERI mediated NF-kB activation:PSMB8,PSMB9 | Cyclin E associated events during G1/S transition :PSMB8,PSMB9 | Downstream signaling events of B Cell Receptor (BCR):PSMB8,PSMB9 | Influenza Life Cycle:HSPA1A,HSPA1B | RNA Polymerase II Pre-transcription Events:GTF2H4 | APC/C-mediated degradation of cell cycle proteins:PSMB8,PSMB9 | Regulation of mitotic cell cycle:PSMB8,PSMB9 | Dual Incision in GG-NER:GTF2H4 | tRNA Aminoacylation:VARS2 | Cross-presentation of soluble exogenous antigens (endosomes):PSMB8,PSMB9 | Regulation of activated PAK-2p34 by proteasome mediated degradation:PSMB8,PSMB9 | Formation of Incision Complex in GG-NER:GTF2H4 | Regulation of ornithine decarboxylase (ODC):PSMB8,PSMB9 | CDK-mediated phosphorylation and removal of Cdc6:PSMB8,PSMB9 | Ubiquitin-dependent degradation of Cyclin D1:PSMB8,PSMB9 | Ubiquitin-dependent degradation of Cyclin D:PSMB8,PSMB9 | Autodegradation of the E3 ubiquitin ligase COP1:PSMB8,PSMB9 | Regulation of Apoptosis:PSMB8,PSMB9 | Ubiquitin Mediated Degradation of Phosphorylated Cdc25A:PSMB8,PSMB9 | p53-Independent DNA Damage Response:PSMB8,PSMB9 | p53-Independent G1/S DNA damage checkpoint:PSMB8,PSMB9 | Late Phase of HIV Life Cycle:GTF2H4 | Vif-mediated degradation of APOBEC3G:PSMB8,PSMB9 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis:PSMB8,PSMB9 | C-type lectin receptors (CLRs):PSMB8,PSMB9 | Degradation of AXIN:PSMB8,PSMB9 | Regulation of RUNX3 expression and activity:PSMB8,PSMB9 | Hh mutants that don't undergo autocatalytic processing are degraded by ERAD:PSMB8,PSMB9 | Degradation of DVL:PSMB8,PSMB9 | Stabilization of p53:PSMB8,PSMB9 | CLEC7A (Dectin-1) signaling:PSMB8,PSMB9 | Hh mutants abrogate ligand secretion:PSMB8,PSMB9 | CDT1 association with the CDC6:ORC:origin complex:PSMB8,PSMB9 | SCF(Skp2)-mediated degradation of p27/p21:PSMB8,PSMB9 | Regulation of expression of SLITs and ROBOs:PSMB8,PSMB9 | Deadenylation-dependent mRNA decay:LSM2,SKIV2L | Cytosolic sensors of pathogen-associated DNA :AGER | Chaperonin-mediated protein folding:SKIV2L | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | Autodegradation of Cdh1 by Cdh1:APC/C:PSMB8,PSMB9 | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection:GTF2H4 | RNA Pol II CTD phosphorylation and interaction with CE:GTF2H4 | RNA Polymerase I Promoter Clearance:GTF2H4,ZNRD1 | Asymmetric localization of PCP proteins:PSMB8,PSMB9 | Hedgehog ligand biogenesis:PSMB8,PSMB9 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha:PSMB8,PSMB9 | p53-Dependent G1 DNA Damage Response:PSMB8,PSMB9 | p53-Dependent G1/S DNA damage checkpoint:PSMB8,PSMB9 | RNA Polymerase I Transcription:GTF2H4,ZNRD1 | mRNA Capping:GTF2H4 | APC/C:Cdc20 mediated degradation of Securin:PSMB8,PSMB9 | Hedgehog 'off' state:PSMB8,PSMB9 | Kawasaki disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphadenitis:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymph node disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphatic system disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | leprosy:HLA-DRB1 | sarcoidosis:AGER,DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:AGER,DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | endocrine system disease:AGER,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1,AGER | primary bacterial infectious disease:FLOT1,HLA-DRB1,PSMB8,PSMB9,TAP2 | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,NCR3,PSMB9 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | vitiligo:DDR1,HLA-C,PSMB8 | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:FLOT1,HLA-DRB1,PSMB8,PSMB9,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:DDR1,HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TAP2 | malaria:HLA-DRB1,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:PSMB8,TAP2,PSMB9 | duodenal ulcer:HSPA1A | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1,PSMB9 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A | urinary system disease:AGER,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,LIMS1,PSMB8 | multiple myeloma:BAG6,IER3,NCR3 | myeloma:BAG6,IER3,NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:BAG6,IER3,NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1,PSMB8 | kidney disease:AGER,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,LIMS1,PSMB8 | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:AGER,HLA-DRB1,TAP2,TNXB | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:AGER,HLA-DRB1,HSPA1B | nephritis:HLA-DQA1,HLA-DRB1 | periodontitis:AGER | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | gestational diabetes:AGER | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:AGER,HLA-DRB1,TAP2 | systemic scleroderma:AGER,HLA-DRB1,TAP2 | scleroderma:AGER,HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | periodontal disease:AGER | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:AGER,DDR1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | aortic valve disease:AGER | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | tooth disease:AGER | germ cell and embryonal cancer:PBX2 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B,AGER | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:AGER,DDR1,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:AGER,HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L,PSMB9 | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:AGER,HLA-DQA1,HLA-DRA | mouth disease:AGER | Sjogren's syndrome:AGER,PSMB9 | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | cell type benign neoplasm:DDR1,TNXB | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:HSPA1B | osteosarcoma:BAG6 | lung disease:AGER,DDR1,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | heart valve disease:AGER | pulmonary edema:HSPA1A | aortic valve stenosis:AGER | myositis:AGER,HLA-DRB1 | neurofibroma:TNXB | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B | myopathy:AGER,HLA-DRB1 | muscle tissue disease:AGER,HLA-DRB1 | bone cancer:BAG6 | nasopharynx carcinoma:DDR1,HSPA1B | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:AGER,HLA-DRB1 | endocrine organ benign neoplasm:DDR1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | retinal disease:AGER,HLA-DRB1,TAP2 | skin disease:HLA-DRB1 | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1 | connective tissue cancer:BAG6 | adenoma:DDR1,TNXB | pulmonary fibrosis:AGER | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | coronary artery disease:AGER,PSMB8 | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1 | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | cellular response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,NCR3,PSMB8,PSMB9 | T cell costimulation:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB8,PSMB9 | lymphocyte costimulation:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB8,PSMB9 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB8,PSMB9 | positive regulation of cell-cell adhesion:AGER,FLOT1,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of T cell activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of cell-cell adhesion:AGER,FLOT1,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,PSMB8,PSMB9,TAP2 | regulation of leukocyte cell-cell adhesion:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,PSMB8,PSMB9,TAP2 | positive regulation of cell adhesion:AGER,FLOT1,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,LIMS1 | positive regulation of lymphocyte activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of cell activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of lymphocyte activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | regulation of T cell activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of leukocyte activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | leukocyte cell-cell adhesion:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,PSMB8,PSMB9,TAP2 | positive regulation of leukocyte activation:AGER,HLA-DQA1,HLA-DQA2,HLA-DRA,HLA-DRB1,HLA-DRB5 | lymphocyte mediated immunity:AGER,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:AGER,NCR3 | adaptive immune response:AGER,NCR3,TAP2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3,AGER | response to type I interferon:HLA-C,PSMB8 | type I interferon signaling pathway:HLA-C,PSMB8 | cellular response to type I interferon:HLA-C,PSMB8 | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LIMS1,PSMB8,PSMB9 | leukocyte mediated cytotoxicity:NCR3,AGER | positive regulation of defense response:FLOT1,GPSM3,HSPA1A,HSPA1B,NCR3,PSMB8,PSMB9 | positive regulation of cytokine production:AGER,AGPAT1,FLOT1,GPSM3,HSPA1A,HSPA1B | T cell mediated immunity:AGER,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:AGER,NCR3 | positive regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3,PSMB8,PSMB9 | positive regulation of T cell proliferation:AGER | regulation of lymphocyte mediated immunity:NCR3,AGER | NIK/NF-kappaB signaling:AGER,LIMS1,PSMB8,PSMB9 | regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3,PSMB8,PSMB9 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB8,PSMB9 | regulation of T cell proliferation:AGER | negative regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB8,PSMB9 | cell killing:NCR3,AGER | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:AGER,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:AGER,LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB8,PSMB9 | regulation of leukocyte proliferation:AGER,LST1 | mRNA catabolic process:HSPA1A,HSPA1B,LSM2,PSMB8,PSMB9,SKIV2L | response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB8,PSMB9 | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:NCR3,AGER | activation of innate immune response:FLOT1,HSPA1A,HSPA1B,PSMB8,PSMB9 | regulation of T cell mediated cytotoxicity:AGER,NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | T cell proliferation:AGER | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of lymphocyte proliferation:AGER | positive regulation of mononuclear cell proliferation:AGER | positive regulation of heterotypic cell-cell adhesion:FLOT1 | regulation of leukocyte mediated cytotoxicity:AGER,NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A,PSMB8,PSMB9 | ER-associated misfolded protein catabolic process:BAG6,RNF5 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB8,PSMB9 | positive regulation of ubiquitin protein ligase activity:PSMB8,PSMB9 | RNA catabolic process:HSPA1A,HSPA1B,LSM2,PSMB8,PSMB9,SKIV2L | positive regulation of leukocyte proliferation:AGER | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L,RNF5 | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | DNA-templated transcription, elongation:GTF2H4,ZNRD1 | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B,PSMB8,PSMB9 | regulation of ubiquitin protein ligase activity:PSMB8,PSMB9 | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,AGER | lymphocyte proliferation:AGER,LST1 | mononuclear cell proliferation:AGER,LST1 | regulation of translational fidelity:VARS2 | positive regulation of interleukin-12 production:AGER | regulation of cell killing:AGER,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB8,PSMB9 | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A,ZNRD1 | regulation of dendritic cell differentiation:AGER | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3,AGER | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AGER,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,AGER | regulation of protein stability:BAG6,FKBPL,FLOT1,HSPA1A,HSPA1B,RNF5 | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | regulation of heterotypic cell-cell adhesion:FLOT1 | extracellular matrix assembly:TNXB | positive regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | positive regulation of ubiquitin-protein transferase activity:PSMB8,PSMB9 | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | nucleocytoplasmic transport:AGER | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB8,PSMB9 | nitric oxide metabolic process:DDAH2 | nuclear transport:AGER | cellular response to misfolded protein:BAG6,RNF5 | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:DDAH2 | nuclear-transcribed mRNA catabolic process, exonucleolytic:LSM2,SKIV2L | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,RNF5 | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B,FKBPL | positive regulation of cytokine-mediated signaling pathway:AGPAT1,HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6,RNF5 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B,RNF5 | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A,PSMB8,PSMB9 | regulation of reactive oxygen species biosynthetic process:DDAH2 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process:PSMB8,PSMB9 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB8,PSMB9,RNF5 | regulation of endocytosis:FLOT1 | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:BAG6,RNF5 | positive regulation of response to cytokine stimulus:AGPAT1,HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1 | positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition:PSMB8,PSMB9 | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A,RNF5 | positive regulation of immune effector process:NCR3 | stimulatory C-type lectin receptor signaling pathway:PSMB8,PSMB9 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | regulation of ubiquitin-protein transferase activity:PSMB8,PSMB9 | transcription elongation from RNA polymerase I promoter:GTF2H4,ZNRD1 | termination of RNA polymerase I transcription:GTF2H4,ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | innate immune response activating cell surface receptor signaling pathway:PSMB8,PSMB9 | positive regulation of T cell mediated immunity:NCR3 | positive regulation of NIK/NF-kappaB signaling:AGER,LIMS1 | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | regulation of interleukin-12 production:AGER | nucleic acid phosphodiester bond hydrolysis:GTF2H4,HSPA1A,ZNRD1 | transcription initiation from RNA polymerase I promoter:GTF2H4,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:LSM2,SKIV2L | nuclear-transcribed mRNA catabolic process:LSM2,SKIV2L | interleukin-12 production:AGER | collagen fibril organization:TNXB | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:HLA-DOB,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | positive regulation of NF-kappaB import into nucleus:AGER | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | post-translational protein modification:PSMB8,PSMB9 | macroautophagy:RNF5 | regulation of T cell mediated immunity:AGER,NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:AGER,FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:GTF2H4,ZNRD1 | positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB8,PSMB9 | regulation of macroautophagy:RNF5 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | protein localization to nucleus:AGER | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | microglial cell activation:AGER | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of autophagy:RNF5 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:AGER,GPSM3 | synapsis:BAG6,MSH5 | macrophage activation:AGER | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | positive regulation of cellular catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | tRNA aminoacylation for protein translation:VARS2 | regulation of transcription factor import into nucleus:AGER | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:SKIV2L | extracellular matrix organization:DDR1,FLOT1,TNXB | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1,TNXB | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B | transcription factor import into nucleus:AGER | tRNA aminoacylation:VARS2 | regulation of binding:AGER,FLOT1 | transcription elongation from RNA polymerase II promoter:GTF2H4 | regulation of mRNA metabolic process:HSPA1A,PSMB8,PSMB9 | regulation of NIK/NF-kappaB signaling:AGER,LIMS1 | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A,PSMB8,PSMB9 | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | regulation of cellular amino acid metabolic process:PSMB8,PSMB9 | syncytium formation:FLOT1 | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1,GTF2H4,HSPA1A,HSPA1B | regulation of cellular protein catabolic process:BAG6,HSPA1A,PSMB8,PSMB9 | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | glial cell activation:AGER | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:PSMB8,PSMB9 | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1 | reactive oxygen species metabolic process:DDAH2 | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:PSMB8,PSMB9,RNF5 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1,LIMS1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6,RNF5 | regulation of macrophage activation:AGER | regulation of mRNA catabolic process:HSPA1A,PSMB8,PSMB9 | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,RNF5 | negative regulation of autophagy:RNF5 | cellular amino acid metabolic process:DDAH2,PSMB8,PSMB9,VARS2 | transcription from RNA polymerase I promoter:GTF2H4,ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | gland morphogenesis:DDR1 | regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB8,PSMB9 | regulation of protein catabolic process:BAG6,HSPA1A,PSMB8 | negative regulation of mitotic cell cycle:PSMB8,PSMB9 | DNA-templated transcription, initiation:GTF2H4,ZNRD1 | Fc-epsilon receptor signaling pathway:PSMB8,PSMB9 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB8,PSMB9 | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | regulation of cell cycle phase transition:PSMB8,PSMB9 | positive regulation of protein ubiquitination:PSMB8,PSMB9 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | transcription initiation from RNA polymerase II promoter:GTF2H4 | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | autophagy:RNF5 | process utilizing autophagic mechanism:RNF5 | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | regulation of autophagosome assembly:RNF5 | G2/M transition of mitotic cell cycle:PSMB8,PSMB9 | protein complex localization:AGER | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:DDAH2 | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6,RNF5 | regulation of muscle tissue development:FLOT1 | negative regulation of ubiquitin protein ligase activity:PSMB8,PSMB9 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | 7-methylguanosine mRNA capping:GTF2H4 | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of leukocyte chemotaxis:GPSM3 | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | regulation of transcription from RNA polymerase II promoter in response to hypoxia:PSMB8,PSMB9 | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | 7-methylguanosine RNA capping:GTF2H4 | RNA capping:GTF2H4 | regulation of cellular amine metabolic process:PSMB8,PSMB9 | smooth muscle cell migration:DDR1 | negative regulation of leukocyte activation:LST1 | cell cycle G2/M phase transition:PSMB8,PSMB9 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:LSM2,SKIV2L | anaphase-promoting complex-dependent catabolic process:PSMB8,PSMB9 | regulation of G2/M transition of mitotic cell cycle:PSMB8,PSMB9 | 0.115141 | 0.0781383 | 0.851542339854514 | -0.022121 | 0.129894 | 0.0630973762081611 | 0.699809 | 0.0846222 | 15.6246729803774 | 0.57225 | 0.107828 | 6.885936 | 0.797658 | 0.139096 | 7.83924043604593 | 0.156049 | 0.0640799 | 1.82487394646913 | 0.147423 | 0.099651 | 0.855488061296061 | -0.0170733 | 0.0430819 | 0.159966712454831 | -0.00501429 | 0.0739626 | 0.0241322775682269 | 0.0211014 | 0.0431127 | 0.204450171950002 | 0.11945 | 0.0718557 | 1.01574144731841 | -0.0416208 | 0.0694779 | 0.26031771148398 | -0.00102413 | 0.0249061 | 0.0144832631250995 | -0.00357361 | 0.0406791 | 0.0315184523982661 | 0.372766 | 0.127692 | 2.45000537249092 | 0.231618 | 0.175142 | 0.729418978452739 | |||||||||||||||||||||||||
rs615567:22319209:A:T | novel2 | 13 | 22319209 | 13q12.11 | T | A | 0.987 | 30 | DHEAS ALL | 7659 | 13.529742435831 | 0.392975780127954 | 0.6987 | FGF9 (41 kb); RN7SL766P (45 kb); RPS7P10 (120 kb); LINC00424 (130 kb) | NA | EFHA1 | FGF9 | Regulation of actin cytoskeleton:FGF9 | endocrine system disease:FGF9 | gonadal dysgenesis:FGF9 | gonadal disease:FGF9 | organ growth:FGF9 | nucleocytoplasmic transport:FGF9 | nuclear transport:FGF9 | regulation of activin receptor signaling pathway:FGF9 | cellular response to fibroblast growth factor stimulus:FGF9 | lipid modification:FGF9 | response to fibroblast growth factor:FGF9 | protein localization to nucleus:FGF9 | regulation of cardiac muscle tissue growth:FGF9 | smoothened signaling pathway:FGF9 | regulation of heart growth:FGF9 | activin receptor signaling pathway:FGF9 | regulation of protein kinase B signaling:FGF9 | regulation of cardiac muscle tissue development:FGF9 | cardiac muscle tissue growth:FGF9 | regulation of striated muscle tissue development:FGF9 | regulation of muscle tissue development:FGF9 | heart growth:FGF9 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:FGF9 | regulation of organ growth:FGF9 | 0.0036083 | 0.0171961 | 0.0789276921007416 | 0.0208011 | 0.0153647 | 0.75444785266381 | -0.00761486 | 0.0341674 | 0.0842641519339287 | 0.00535116 | 0.0189188 | 0.109399599294482 | 0.0194903 | 0.0202585 | 0.473426835299672 | -0.0186107 | 0.0389864 | 0.198424115719587 | -0.0239302 | 0.0141054 | 1.04606836362669 | -0.00490317 | 0.0159638 | 0.119882980094123 | -0.0583439 | 0.0272622 | 1.48561962241625 | -0.0778523 | 0.0102432 | 13.529742435831 | -0.0716892 | 0.0128678 | 7.59688634519438 | -0.0851216 | 0.016306 | 6.74796780868763 | 0.00261437 | 0.0101286 | 0.0989140127336415 | 0.0275065 | 0.0107532 | 1.97764587353337 | -0.034564 | 0.0171348 | 1.35975316527966 | -0.00160901 | 0.0098721 | 0.0602162577345234 | 2.28004E-4 | 0.0122095 | 0.0065192400668815 | -0.01028 | 0.0156561 | 0.291214649436612 | -0.00805549 | 0.00589449 | 0.765113368959283 | 0.00397338 | 0.00766053 | 0.218975285071077 | -0.02152 | 0.00914843 | 1.72915818846681 | -0.0371514 | 0.0283557 | 0.720602292482328 | -0.0439925 | 0.0352545 | 0.673031595247614 | -0.026691 | 0.0477159 | 0.239509663364885 | ||
rs79040733:32473007:T:TG | 6 | 32473007 | 6p21.32 | TG | T | 0.89 | 1 | OHP17 ALL | 2070 | 13.4109433502101 | 0.0107493719806763 | HLA-DRB5 (12 kb); HLA-DRB9 (32 kb); RNU1-61P (45 kb); HLA-DRB6 (47 kb) | 0.328 Marginal zone lymphoma | - | AGER | AIF1 | APOM | ATP6V1G2 | B3GALT4 | BAG6 | BRD2 | C4A | C4B | C4B 2 | C6orf10 | CFB | CLIC1 | CSNK2B | CUTA | CYP21A2 | DDAH2 | DOM3Z | DXO | GPSM3 | HCG23 | HCP5 | HLA-DMA | HLA-DMB | HLA-DOA | HLA-DOB | HLA-DPB1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB1-AS1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB9 | HSPA1A | HSPA1B | HSPA1L | LSM2 | LST1 | LTB | LY6G5B | LY6G5C | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NOTCH4 | PRRC2A | PRRT1 | PSMB8 | PSMB9 | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | unnamed | XXbac-BPG154L12.4 | XXbac-BPG254F23.6 | ARHGAP24 | BTN3A2 | CLK3 | DEF8 | EEF1G | EXOC1 | FLOT1 | GOLGA2 | HCP5 | HLA-C | HLA-G | HLA-H | KPNA2 | LIMS1 | LINC00243 | ME2 | NCR3 | RPL34 | SSRP1 | TINF2 | TMEM154 | TOMM22 | TRIM56 | unnamed | VARS2 | XRCC6 | ZNF672 | Type I diabetes mellitus:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Allograft rejection:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graft-versus-host disease:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Antigen processing and presentation:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Viral myocarditis:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Staphylococcus aureus infection:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Asthma:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phagosome:ATP6V1G2,HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Herpes simplex infection:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Intestinal immune network for IgA production:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Rheumatoid arthritis:ATP6V1G2,HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LTB | Inflammatory bowel disease (IBD):HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Toxoplasmosis:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1L | Systemic lupus erythematosus:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Leishmaniasis:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Influenza A:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1L,KPNA2 | Hematopoietic cell lineage:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Epstein-Barr virus infection:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th17 cell differentiation:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Tuberculosis:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Endocytosis:HSPA1L | Legionellosis:HSPA1L | Human cytomegalovirus infection:TAP2 | Spliceosome:HSPA1L,LSM2 | Human immunodeficiency virus 1 infection:TAP2 | NF-kappa B signaling pathway:LTB | Protein processing in endoplasmic reticulum:HSPA1L,RNF5 | Longevity regulating pathway - multiple species:HSPA1L | Measles:HSPA1L | Estrogen signaling pathway:HSPA1L | Human papillomavirus infection:ATP6V1G2 | Proteasome:PSMB9 | Aminoacyl-tRNA biosynthesis:VARS2 | Lysosome:NEU1 | Translocation of ZAP-70 to Immunological synapse:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Interferon gamma signaling:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | PD-1 signaling:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Generation of second messenger molecules:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Downstream TCR signaling:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | Interferon Signaling:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,KPNA2 | TCR signaling:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | MHC class II antigen presentation:HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Costimulation by the CD28 family:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:TAP2 | ER-Phagosome pathway:PSMB9,TAP2 | Antigen processing-Cross presentation:PSMB9,TAP2 | Attenuation phase:HSPA1L | Infectious disease:KPNA2,PSMB9,RPL34,SSRP1,XRCC6 | TNFR2 non-canonical NF-kB pathway:LTB,PSMB9 | Butyrophilin (BTN) family interactions:BTN3A2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1L | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:LTB | HSF1-dependent transactivation:HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:SSRP1 | HIV Infection:PSMB9,SSRP1,XRCC6 | AUF1 (hnRNP D0) binds and destabilizes mRNA:PSMB9 | Class I MHC mediated antigen processing & presentation:PSMB9,TAP2 | Transcriptional regulation by RUNX3:PSMB9 | HIV Transcription Elongation:SSRP1 | Formation of HIV-1 elongation complex containing HIV-1 Tat:SSRP1 | Tat-mediated elongation of the HIV-1 transcript:SSRP1 | Formation of HIV elongation complex in the absence of HIV Tat:SSRP1 | Vpu mediated degradation of CD4:PSMB9 | Regulation of mRNA stability by proteins that bind AU-rich elements:PSMB9 | SCF-beta-TrCP mediated degradation of Emi1:PSMB9 | NIK-->noncanonical NF-kB signaling:PSMB9 | Dectin-1 mediated noncanonical NF-kB signaling:PSMB9 | Degradation of GLI1 by the proteasome:PSMB9 | Degradation of GLI2 by the proteasome:PSMB9 | GLI3 is processed to GLI3R by the proteasome:PSMB9 | Regulation of HSF1-mediated heat shock response:HSPA1L | Regulation of PTEN stability and activity:PSMB9 | Influenza Infection:KPNA2,RPL34 | Defective CFTR causes cystic fibrosis:PSMB9,RNF5 | Formation of RNA Pol II elongation complex :SSRP1 | RNA Polymerase II Transcription Elongation:SSRP1 | Pausing and recovery of Tat-mediated HIV elongation:SSRP1 | Tat-mediated HIV elongation arrest and recovery:SSRP1 | ABC-family proteins mediated transport:PSMB9,RNF5 | Activation of NF-kappaB in B cells:PSMB9 | G2/M Transition:PSMB9 | HIV elongation arrest and recovery:SSRP1 | Pausing and recovery of HIV elongation:SSRP1 | HIV Life Cycle:SSRP1,XRCC6 | Mitotic G2-G2/M phases:PSMB9 | Transcription of the HIV genome:SSRP1 | Cellular response to heat stress:HSPA1L | Transcriptional Regulation by TP53:SSRP1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | The role of GTSE1 in G2/M progression after G2 checkpoint:PSMB9 | Neutrophil degranulation:NEU1,XRCC6 | Regulation of APC/C activators between G1/S and early anaphase:PSMB9 | ABC transporter disorders:PSMB9,RNF5 | Cyclin A:Cdk2-associated events at S phase entry:PSMB9 | Interleukin-1 family signaling:PSMB9 | Degradation of beta-catenin by the destruction complex:PSMB9 | FCERI mediated NF-kB activation:PSMB9 | Cyclin E associated events during G1/S transition :PSMB9 | Eukaryotic Translation Elongation:RPL34 | Downstream signaling events of B Cell Receptor (BCR):PSMB9 | Influenza Life Cycle:RPL34 | RNA Polymerase II Pre-transcription Events:SSRP1 | APC/C-mediated degradation of cell cycle proteins:PSMB9 | Regulation of mitotic cell cycle:PSMB9 | tRNA Aminoacylation:VARS2 | Cross-presentation of soluble exogenous antigens (endosomes):PSMB9 | Regulation of activated PAK-2p34 by proteasome mediated degradation:PSMB9 | Regulation of ornithine decarboxylase (ODC):PSMB9 | CDK-mediated phosphorylation and removal of Cdc6:PSMB9 | Ubiquitin-dependent degradation of Cyclin D1:PSMB9 | Ubiquitin-dependent degradation of Cyclin D:PSMB9 | Autodegradation of the E3 ubiquitin ligase COP1:PSMB9 | Regulation of Apoptosis:PSMB9 | Ubiquitin Mediated Degradation of Phosphorylated Cdc25A:PSMB9 | p53-Independent DNA Damage Response:PSMB9 | p53-Independent G1/S DNA damage checkpoint:PSMB9 | Late Phase of HIV Life Cycle:SSRP1 | Vif-mediated degradation of APOBEC3G:PSMB9 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis:PSMB9 | C-type lectin receptors (CLRs):PSMB9 | Degradation of AXIN:PSMB9 | Regulation of RUNX3 expression and activity:PSMB9 | Hh mutants that don't undergo autocatalytic processing are degraded by ERAD:PSMB9 | Degradation of DVL:PSMB9 | Stabilization of p53:PSMB9 | CLEC7A (Dectin-1) signaling:PSMB9 | Hh mutants abrogate ligand secretion:PSMB9 | CDT1 association with the CDC6:ORC:origin complex:PSMB9 | SCF(Skp2)-mediated degradation of p27/p21:PSMB9 | Regulation of expression of SLITs and ROBOs:PSMB9,RPL34 | Deadenylation-dependent mRNA decay:LSM2,SKIV2L | Cytosolic sensors of pathogen-associated DNA :XRCC6 | Chaperonin-mediated protein folding:SKIV2L | NS1 Mediated Effects on Host Pathways:KPNA2 | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | Autodegradation of Cdh1 by Cdh1:APC/C:PSMB9 | Asymmetric localization of PCP proteins:PSMB9 | Hedgehog ligand biogenesis:PSMB9 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha:PSMB9 | p53-Dependent G1 DNA Damage Response:PSMB9 | p53-Dependent G1/S DNA damage checkpoint:PSMB9 | APC/C:Cdc20 mediated degradation of Securin:PSMB9 | Hedgehog 'off' state:PSMB9 | Kawasaki disease:HLA-DRB1 | lymphadenitis:HLA-DRB1 | lymph node disease:HLA-DRB1 | lymphatic system disease:HLA-DRB1 | leprosy:HLA-DRB1 | sarcoidosis:HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-DPB1,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | endocrine system disease:HLA-DPB1,HLA-DQA1,HLA-DRB1,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graves' disease:HLA-DPB1,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-DPB1,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-DQA1,HLA-DRB1 | primary bacterial infectious disease:HLA-DPB1,HLA-DRB1,PSMB9,TAP2 | hepatitis:APOM,HLA-DPB1,HLA-DQA1,HLA-DRB1,PSMB9 | hyperthyroidism:HLA-DPB1,HLA-DQA1,HLA-DRB1,TAP2 | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:HLA-DPB1,HLA-DRB1,PSMB9,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-DQA1,HLA-DRB1 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-DRB1 | parasitic infectious disease:HLA-DRB1,TAP2 | malaria:HLA-DRB1 | hair disease:HLA-DQA1 | pulmonary sarcoidosis:HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:TAP2,PSMB9 | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-DPB1,HLA-DQA1,HLA-DRB1,PSMB9 | upper respiratory tract disease:TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1 | urinary system disease:HLA-DQA1,HLA-DRB1 | reproductive system disease:HLA-DRB1 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1 | proteinuria:HLA-DRB1 | borna disease:KPNA2 | kidney disease:HLA-DQA1,HLA-DRB1 | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:TAP2 | nose disease:TAP2 | rhinitis:TAP2 | collagen disease:HLA-DPB1,HLA-DRB1,TAP2 | prostatitis:HLA-DRB1 | pancreatitis:HLA-DRB1 | nephritis:HLA-DQA1,HLA-DRB1 | celiac disease:HLA-DQA1,HLA-DRB1 | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:HLA-DPB1,HLA-DRB1,TAP2 | systemic scleroderma:HLA-DPB1,HLA-DRB1,TAP2 | scleroderma:HLA-DPB1,HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1 | male infertility:HLA-DRB1 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-DRB1 | reactive arthritis:HLA-DRB1 | interstitial lung disease:HLA-DRB1 | bronchial disease:TAP2 | tuberculosis:HLA-DPB1,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1 | pneumoconiosis:HLA-DRB1 | schistosomiasis:HLA-DRB1 | sclerosing cholangitis:HLA-DRB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1 | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DPB1,HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:HLA-DRB1,TAP2 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1L,PSMB9 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA | Sjogren's syndrome:PSMB9 | migraine:HLA-DRB1 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | cell type benign neoplasm:XRCC6 | stomach disease:HLA-DRB1 | cholangitis:HLA-DRB1 | lung disease:HLA-DRB1 | spinal cord disease:HLA-DRB1 | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | myopathy:HLA-DPB1,HLA-DRB1 | muscle tissue disease:HLA-DPB1,HLA-DRB1 | lymphoblastic leukemia:HLA-DRB1,HSPA1L | cardiomyopathy:HLA-DPB1 | muscular disease:HLA-DPB1,HLA-DRB1 | bronchiectasis:TAP2 | liver cirrhosis:APOM,HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | pleural cancer:XRCC6 | malignant pleural mesothelioma:XRCC6 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1 | retinal disease:HLA-DRB1,TAP2 | female reproductive organ cancer:HLA-DQA1,HLA-DRB1,KPNA2 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:HLA-DQA1,HLA-DRB1 | ovarian carcinoma:HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of exogenous antigen:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of peptide antigen:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | interferon-gamma-mediated signaling pathway:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | cellular response to interferon-gamma:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | response to interferon-gamma:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DMA,HLA-DOB,HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell receptor signaling pathway:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-activating signal transduction:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | T cell costimulation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | lymphocyte costimulation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-regulating cell surface receptor signaling pathway:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | positive regulation of cell-cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of T cell activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of cell-cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:PSMB9,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I:PSMB9,TAP2 | positive regulation of cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of lymphocyte activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of cell activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of lymphocyte activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | regulation of T cell activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of leukocyte activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | leukocyte cell-cell adhesion:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class I:PSMB9,TAP2 | positive regulation of leukocyte activation:HLA-DPB1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | lymphocyte mediated immunity:BTN3A2 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:BTN3A2 | adaptive immune response:BTN3A2,TAP2 | tumor necrosis factor-mediated signaling pathway:LTB,PSMB9 | positive regulation of defense response:PSMB9,XRCC6 | positive regulation of cytokine production:HLA-DPB1,LTB,XRCC6 | T cell mediated immunity:BTN3A2 | protein refolding:HSPA1L | positive regulation of innate immune response:PSMB9,XRCC6 | positive regulation of T cell proliferation:HLA-DPB1 | NIK/NF-kappaB signaling:PSMB9 | regulation of innate immune response:PSMB9,XRCC6 | cellular response to tumor necrosis factor:LTB,PSMB9 | regulation of T cell proliferation:HLA-DPB1 | regulation of lymphocyte proliferation:HLA-DPB1,LST1 | regulation of mononuclear cell proliferation:HLA-DPB1,LST1 | modulation by virus of host morphology or physiology:KPNA2 | negative regulation of protein ubiquitination:PSMB9 | interferon-gamma production:BTN3A2,HLA-DPB1 | lymph node development:LTB | regulation of leukocyte proliferation:HLA-DPB1,LST1 | mRNA catabolic process:LSM2,PSMB9,RPL34,SKIV2L | response to tumor necrosis factor:LTB,PSMB9 | response to heat:HSPA1L | negative regulation of protein modification by small protein conjugation or removal:PSMB9 | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | activation of innate immune response:PSMB9,XRCC6 | modulation by virus of host process:KPNA2 | T cell proliferation:HLA-DPB1 | antigen processing and presentation of endogenous antigen:TAP2 | microtubule nucleation:GOLGA2 | positive regulation of lymphocyte proliferation:HLA-DPB1 | modification by symbiont of host morphology or physiology:KPNA2 | positive regulation of mononuclear cell proliferation:HLA-DPB1 | regulation of DNA-templated transcription in response to stress:PSMB9 | ER-associated misfolded protein catabolic process:RNF5 | regulation of protein ubiquitination:GOLGA2,PSMB9 | positive regulation of ubiquitin protein ligase activity:GOLGA2,PSMB9 | RNA catabolic process:LSM2,PSMB9,RPL34,SKIV2L | positive regulation of leukocyte proliferation:HLA-DPB1 | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | modulation by symbiont of host cellular process:KPNA2 | response to topologically incorrect protein:HSPA1L,RNF5 | DNA-templated transcription, elongation:SSRP1 | innate immune response-activating signal transduction:PSMB9 | regulation of ubiquitin protein ligase activity:GOLGA2,PSMB9 | regulation of nitric oxide biosynthetic process:DDAH2 | lymphocyte proliferation:HLA-DPB1,LST1 | mononuclear cell proliferation:HLA-DPB1,LST1 | regulation of translational fidelity:VARS2 | positive regulation of interleukin-12 production:LTB | regulation of protein modification by small protein conjugation or removal:GOLGA2,PSMB9 | regulation of antigen processing and presentation:HLA-DOB | response to temperature stimulus:HSPA1L | leukocyte proliferation:HLA-DPB1,LST1 | regulation of protein stability:RNF5 | positive regulation of interferon-gamma production:HLA-DPB1 | nitric oxide biosynthetic process:DDAH2 | interaction with host:KPNA2 | positive regulation of ubiquitin-protein transferase activity:GOLGA2,PSMB9 | nucleocytoplasmic transport:KPNA2 | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | nitric oxide metabolic process:DDAH2 | nuclear transport:KPNA2 | cellular response to misfolded protein:RNF5 | viral latency:XRCC6 | reactive nitrogen species metabolic process:DDAH2 | nuclear-transcribed mRNA catabolic process, exonucleolytic:LSM2,SKIV2L | cellular response to topologically incorrect protein:RNF5 | regulation of cellular response to heat:HSPA1L | response to misfolded protein:RNF5 | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:RNF5 | regulation of transcription from RNA polymerase II promoter in response to stress:PSMB9 | regulation of reactive oxygen species biosynthetic process:DDAH2 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process:PSMB9 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9,RNF5 | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:RNF5 | cellular response to X-ray:XRCC6 | positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition:PSMB9 | response to endoplasmic reticulum stress:RNF5 | stimulatory C-type lectin receptor signaling pathway:PSMB9 | regulation of ubiquitin-protein transferase activity:GOLGA2,PSMB9 | innate immune response activating cell surface receptor signaling pathway:PSMB9 | ganglioside metabolic process:NEU1 | regulation of interleukin-12 production:LTB | spindle assembly:GOLGA2 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:LSM2,SKIV2L | nuclear-transcribed mRNA catabolic process:LSM2,RPL34,SKIV2L | interferon-gamma secretion:BTN3A2 | interleukin-12 production:LTB | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:HLA-DOB,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:PSMB9 | post-translational protein modification:PSMB9 | macroautophagy:ATP6V1G2,EXOC1,RNF5 | positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | regulation of macroautophagy:ATP6V1G2,EXOC1,RNF5 | mitotic spindle assembly:GOLGA2 | regulation of interferon-gamma production:HLA-DPB1 | viral life cycle:KPNA2 | protein localization to nucleus:KPNA2 | asymmetric cell division:GOLGA2 | regulation of proteolysis involved in cellular protein catabolic process:PSMB9 | cellular response to heat:HSPA1L | positive regulation of cellular protein catabolic process:PSMB9 | regulation of protein glycosylation:GOLGA2 | response to salt stress:XRCC6 | regulation of autophagy:ATP6V1G2,EXOC1,GOLGA2,RNF5 | DNA ligation:XRCC6 | microtubule polymerization:GOLGA2 | protein folding:HSPA1L | positive regulation of protein catabolic process:PSMB9 | viral transcription:RPL34 | positive regulation of cellular catabolic process:PSMB9 | tRNA aminoacylation for protein translation:VARS2 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:RPL34,SKIV2L | lipoprotein metabolic process:APOM | tRNA aminoacylation:VARS2 | regulation of binding:GOLGA2 | transcription elongation from RNA polymerase II promoter:SSRP1 | regulation of mRNA metabolic process:PSMB9 | amino acid activation:VARS2 | regulation of RNA stability:PSMB9 | regulation of cellular amino acid metabolic process:PSMB9 | regulation of monooxygenase activity:DDAH2 | regulation of cellular protein catabolic process:PSMB9 | viral gene expression:RPL34 | regulation of mitotic cell cycle phase transition:PSMB9 | protein glycosylation:GOLGA2 | macromolecule glycosylation:GOLGA2 | reactive oxygen species metabolic process:DDAH2 | protein polyubiquitination:PSMB9,RNF5 | positive regulation of cytokine biosynthetic process:LTB | negative regulation of catabolic process:RNF5,GOLGA2 | regulation of mRNA catabolic process:PSMB9 | glycosylation:GOLGA2 | negative regulation of cellular catabolic process:GOLGA2,RNF5 | negative regulation of autophagy:GOLGA2,RNF5 | cellular amino acid metabolic process:DDAH2,PSMB9,VARS2 | ruffle assembly:DEF8 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | negative regulation of mitotic cell cycle:PSMB9 | Fc-epsilon receptor signaling pathway:PSMB9 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | modification of morphology or physiology of other organism involved in symbiotic interaction:KPNA2 | regulation of cell cycle phase transition:PSMB9 | positive regulation of protein ubiquitination:GOLGA2,PSMB9 | positive regulation of catabolic process:PSMB9 | multi-organism transport:KPNA2 | multi-organism localization:KPNA2 | autophagy:ATP6V1G2,EXOC1,GOLGA2,RNF5 | process utilizing autophagic mechanism:ATP6V1G2,EXOC1,GOLGA2,RNF5 | regulation of autophagosome assembly:RNF5 | G2/M transition of mitotic cell cycle:PSMB9 | protein complex localization:EXOC1 | regulation of reactive oxygen species metabolic process:DDAH2 | ubiquitin-dependent ERAD pathway:RNF5 | negative regulation of ubiquitin protein ligase activity:PSMB9 | regulation of smooth muscle cell proliferation:XRCC6 | response to unfolded protein:HSPA1L | regulation of transcription from RNA polymerase II promoter in response to hypoxia:PSMB9 | microtubule polymerization or depolymerization:GOLGA2 | SRP-dependent cotranslational protein targeting to membrane:RPL34 | translational initiation:RPL34 | regulation of cellular amine metabolic process:PSMB9 | smooth muscle cell proliferation:XRCC6 | spindle organization:GOLGA2 | negative regulation of leukocyte activation:LST1 | cell cycle G2/M phase transition:PSMB9 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:LSM2,SKIV2L | anaphase-promoting complex-dependent catabolic process:PSMB9 | regulation of G2/M transition of mitotic cell cycle:PSMB9 | response to X-ray:XRCC6 | 0.203377 | 0.0848679 | 1.77869271871296 | 0.088668 | 0.14836 | 0.259581250654605 | 0.702532 | 0.0922135 | 13.4109433502101 | 0.915222 | 0.159774 | 7.82370322352484 | 0.222614 | 0.0695865 | 2.85403951022214 | 0.224415 | 0.114325 | 1.30065839860833 | -0.0466049 | 0.0491017 | 0.46528236733087 | -0.0774115 | 0.0829994 | 0.454707731462583 | -0.00376147 | 0.0486776 | 0.0276092240824664 | 0.00669294 | 0.0814077 | 0.0294318480587302 | 0.093462 | 0.046509 | 1.35184107975439 | -0.00206821 | 0.0769072 | 0.00941875398492458 | 0.0261762 | 0.0282655 | 0.450502610492856 | 0.014175 | 0.0457636 | 0.121044127019475 | 0.334994 | 0.139233 | 1.78998128160806 | 0.301226 | 0.197251 | 0.895529960347109 | ||||||||||||||||||||||||||
rs143524414:98965615:G:A | 7 | 98965615 | 7q22.1 | A | G | 0.959 | 0 | DHEAS ALL | 7659 | 13.2961766146305 | 0.0689792662227445 | 0.264591 | ARPC1A (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER); ARPC1B (6.3 kb); PDAP1 (24 kb); BUD31 (41 kb); PTCD1 (49 kb) | 0.321 Blood metabolite levels // 0.321 Hand grip strength | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | AZGP1 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | EPHB4 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | LRCH4 | MCM7 | MEPCE | MOSPD3 | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | RP11-44M6.1 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TRIM4 | TSC22D4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | ZSCAN21 | FRMD3 | PILRB | PMS2 | RRAGA | Influenza A:CPSF4 | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Lysosome:AP4M1 | EPHB-mediated forward signaling:ARPC1A,ARPC1B | EPH-Ephrin signaling:ARPC1A,ARPC1B | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | Influenza Infection:CPSF4 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | influenza:CPSF4 | specific developmental disorder:AP4M1 | cerebral palsy:AP4M1 | modulation by virus of host morphology or physiology:CPSF4 | modification by symbiont of host morphology or physiology:CPSF4 | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B,PVRIG | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4 | antigen receptor-mediated signaling pathway:PVRIG | modification of morphology or physiology of other organism:CPSF4 | protein localization to vacuole:AP4M1 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | interaction with host:CPSF4 | nucleocytoplasmic transport:CPSF4 | protein localization to lysosome:AP4M1 | nuclear transport:CPSF4 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | protein targeting to vacuole:AP4M1 | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | positive regulation of protein complex assembly:ARPC1A,ARPC1B | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | negative regulation of immune system process:PVRIG | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | 0.0621654 | 0.0324561 | 1.25505645391819 | 0.0241457 | 0.0299129 | 0.377069309056245 | 0.0321756 | 0.0357325 | 0.434173424510897 | -0.00783146 | 0.0394363 | 0.0743697831254838 | 0.0974706 | 0.0697512 | 0.788532375560858 | 0.00884104 | 0.0266638 | 0.13062510407031 | 0.00236464 | 0.0310669 | 0.0271776460088078 | 0.0192401 | 0.0489869 | 0.158255842466533 | -0.15273 | 0.0202816 | 13.2961766146305 | -0.155228 | 0.0254982 | 8.94128555402359 | -0.151289 | 0.0322826 | 5.55583180699517 | 0.00528595 | 0.0213238 | 0.0946251307088186 | -0.03762 | 0.0194549 | 1.27449591403048 | -0.0282872 | 0.0243081 | 0.611635884641986 | -0.056281 | 0.030171 | 1.20673359825861 | 0.0103753 | 0.0116132 | 0.429875211423522 | -0.00656157 | 0.0151619 | 0.177058858521272 | 0.030923 | 0.0179572 | 1.0702562413369 | 0.0515366 | 0.0531362 | 0.478579455134541 | 0.0954361 | 0.0680025 | 0.793905757314418 | -0.018884 | 0.0849097 | 0.0840369499457458 | ||||||||||
rs10257273:99188589:A:T | 7 | 99188589 | 7q22.1 | T | A | 0.996 | 52 | DHEAS ALL | 7659 | 13.0505494891252 | 0.147950058754407 | 1.154 | GS1-259H13.10 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); AC005020.1 (4 kb, near gene/Downstream gene/MODIFIER); ZNF655 (15 kb); ZSCAN25 (26 kb); FAM200A (32 kb) | 0.993 Hand grip strength // 0.815 Blood metabolite levels // 0.63 Diffuse cutaneous systemic sclerosis // 0.63 Blood metabolite ratios // 0.618 Dehydroepiandrosterone sulphate levels // 0.331 Sex hormone levels // 0.331 Total body bone mineral density (age over 60) // 0.331 Total body bone mineral density // 0.331 Femoral neck bone mineral density // 0.331 Lumbar spine bone mineral density | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | MCM7 | MEPCE | MOSPD3 | NYAP1 | OR2AE1 | PDAP1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | SMURF1 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | ZSCAN21 | RRAGA | Herpes simplex infection:PILRA,TAF6 | Chemical carcinogenesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Influenza A:CPSF4 | Metabolism of xenobiotics by cytochrome P450:CYP3A5 | Steroid hormone biosynthesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Drug metabolism - cytochrome P450:CYP3A5 | Retinol metabolism:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | DNA replication:MCM7 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Lysosome:AP4M1 | Xenobiotics:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Biological oxidations:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Cytochrome P450 - arranged by substrate type:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Phase I - Functionalization of compounds:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | EPHB-mediated forward signaling:ARPC1A,ARPC1B | Unwinding of DNA:MCM7 | Aflatoxin activation and detoxification:CYP3A5 | mTORC1-mediated signalling:RRAGA | EPH-Ephrin signaling:ARPC1A,ARPC1B | Energy dependent regulation of mTOR by LKB1-AMPK:RRAGA | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4,TAF6 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | mTOR signalling:RRAGA | Influenza Infection:CPSF4 | Activation of the pre-replicative complex:MCM7 | DNA strand elongation:MCM7 | Transcriptional Regulation by TP53:RRAGA,TAF6 | Transcription of the HIV genome:TAF6 | Activation of ATR in response to replication stress:MCM7 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Regulation of PTEN gene transcription:RRAGA | RNA Polymerase II Pre-transcription Events:TAF6 | Macroautophagy:RRAGA | TP53 Regulates Metabolic Genes:RRAGA | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | urinary system disease:CYP3A5 | multiple myeloma:CYP3A5 | myeloma:CYP3A5 | bone marrow cancer:CYP3A5 | kidney disease:CYP3A5 | ataxia telangiectasia:MCM7 | polycystic ovary syndrome:CYP3A7 | prostate cancer:MCM7 | male reproductive organ cancer:MCM7 | influenza:CPSF4 | astrocytoma:MCM7 | toxic encephalopathy:CYP3A5 | specific developmental disorder:AP4M1 | autosomal recessive disease:MCM7 | female reproductive organ cancer:STAG3 | cerebral palsy:AP4M1 | modulation by virus of host morphology or physiology:CPSF4,RRAGA | modification by symbiont of host morphology or physiology:CPSF4,RRAGA | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B,PVRIG | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4,RRAGA | cellular response to xenobiotic stimulus:CYP3A5,CYP3A7,MCM7 | response to xenobiotic stimulus:CYP3A5,CYP3A7,MCM7 | antigen receptor-mediated signaling pathway:PVRIG | oxidative demethylation:CYP3A5 | drug catabolic process:CYP3A5 | modification of morphology or physiology of other organism:CPSF4,RRAGA | DNA replication initiation:MCM7 | protein localization to vacuole:AP4M1 | xenobiotic metabolic process:CYP3A5,CYP3A7 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | steroid metabolic process:CYP3A5,CYP3A7 | sulfur compound metabolic process:GAL3ST4 | interaction with host:CPSF4,RRAGA | nucleocytoplasmic transport:CPSF4 | protein localization to lysosome:AP4M1 | nuclear transport:CPSF4 | drug metabolic process:CYP3A5 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | positive regulation of TOR signaling:RRAGA | cellular response to epidermal growth factor stimulus:MCM7 | response to epidermal growth factor:MCM7 | protein targeting to vacuole:AP4M1 | DNA-templated transcription, elongation:TAF6 | cellular response to amino acid starvation:RRAGA | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | post-translational protein modification:COPS6 | response to drug:MCM7 | lipid modification:CYP3A5,CYP3A7 | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | demethylation:CYP3A5 | cellular response to amino acid stimulus:RRAGA | regulation of autophagy:RRAGA | positive regulation of protein complex assembly:ARPC1A,ARPC1B | negative regulation of autophagy:RRAGA | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | regulation of macroautophagy:RRAGA | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | negative regulation of immune system process:PVRIG | negative regulation of cellular catabolic process:RRAGA | snRNA metabolic process:MEPCE,TAF6 | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | regulation of TOR signaling:RRAGA | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | autophagy:RRAGA | process utilizing autophagic mechanism:RRAGA | transcription elongation from RNA polymerase II promoter:TAF6 | cytolysis:RRAGA | negative regulation of mitotic cell cycle phase transition:ZNF655 | negative regulation of catabolic process:RRAGA | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | negative regulation of cell cycle phase transition:ZNF655 | ncRNA transcription:TAF6 | 0.0155791 | 0.023157 | 0.300009734400011 | -0.00564042 | 0.0210918 | 0.102821177954993 | 0.0237904 | 0.0450752 | 0.223558889560641 | -0.0102452 | 0.0254789 | 0.162634447367375 | -0.0404791 | 0.0277795 | 0.837719441207495 | 0.044105 | 0.0507235 | 0.414699481380078 | -0.0125702 | 0.019008 | 0.293721853976858 | -0.0359382 | 0.021879 | 0.996966216712265 | 0.0295445 | 0.0355801 | 0.390819808538904 | -0.10549 | 0.0141479 | 13.0505494891252 | -0.0892611 | 0.0178588 | 6.23745647109209 | -0.123667 | 0.0224046 | 7.46911673015212 | -0.00112236 | 0.0149101 | 0.0268739944658585 | -0.0329809 | 0.0136608 | 1.80225644131677 | -0.0229002 | 0.0169356 | 0.753718128106649 | -0.001781 | 0.00812302 | 0.0827818395166649 | -0.0115466 | 0.0106126 | 0.558160385347822 | 0.0102185 | 0.0125387 | 0.381850405354687 | 0.011949 | 0.0380205 | 0.123007242802717 | 0.0616918 | 0.0480295 | 0.700688864527717 | -0.0750121 | 0.0620118 | 0.644289934196573 | ||||||||||
rs34022779:99039313:A:AT | 7 | 99039313 | 7q22.1 | AT | A | 0.982 | 0 | DHEAS ALL | 7659 | 12.7300249881969 | 0.0924461156808983 | 0.272062 | ATP5J2-PTCD1 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CPSF4 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); PTCD1 (0 kb, intron/Intron/MODIFIER | near gene/Upstream gene/MODIFIER); AC073063.10 (1.2 kb, near gene/Downstream gene/MODIFIER); AC073063.1 (1.2 kb, near gene/Upstream gene/MODIFIER); ATP5J2 (6.8 kb); BUD31 (22 kb); ZNF789 (31 kb); PDAP1 (33 kb); ZNF394 (45 kb); ARPC1B (47 kb) | 0.858 Blood metabolite levels // 0.803 Diffuse cutaneous systemic sclerosis // 0.803 Blood metabolite ratios // 0.782 Dehydroepiandrosterone sulphate levels // 0.54 Hand grip strength // 0.381 Sex hormone levels // 0.381 Total body bone mineral density (age over 60) // 0.381 Total body bone mineral density // 0.381 Femoral neck bone mineral density // 0.381 Lumbar spine bone mineral density // 0.333 Blood protein levels | - | AP4M1 | ARPC1A | ARPC1B | ATP5J2 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A5 | CYP3A7 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | MCM7 | MEPCE | MOSPD3 | NYAP1 | OR2AE1 | PDAP1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | SMURF1 | SPDYE3 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TAF6 | TRIM4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNF498 | ZNF655 | ZNF789 | RRAGA | Herpes simplex infection:PILRA | Chemical carcinogenesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Influenza A:CPSF4 | Metabolism of xenobiotics by cytochrome P450:CYP3A5 | Steroid hormone biosynthesis:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Drug metabolism - cytochrome P450:CYP3A5 | Retinol metabolism:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | DNA replication:MCM7 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | Lysosome:AP4M1 | Xenobiotics:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Biological oxidations:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Cytochrome P450 - arranged by substrate type:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Phase I - Functionalization of compounds:CYP3A5,CYP3A7,CYP3A7-CYP3A51P | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | EPHB-mediated forward signaling:ARPC1A,ARPC1B | Unwinding of DNA:MCM7 | Aflatoxin activation and detoxification:CYP3A5 | mTORC1-mediated signalling:RRAGA | EPH-Ephrin signaling:ARPC1A,ARPC1B | Energy dependent regulation of mTOR by LKB1-AMPK:RRAGA | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Infectious disease:CPSF4 | NS1 Mediated Effects on Host Pathways:CPSF4 | Host Interactions with Influenza Factors:CPSF4 | mTOR signalling:RRAGA | Influenza Infection:CPSF4 | Activation of the pre-replicative complex:MCM7 | DNA strand elongation:MCM7 | Transcriptional Regulation by TP53:RRAGA | Activation of ATR in response to replication stress:MCM7 | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Regulation of PTEN gene transcription:RRAGA | Macroautophagy:RRAGA | TP53 Regulates Metabolic Genes:RRAGA | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | urinary system disease:CYP3A5 | multiple myeloma:CYP3A5 | myeloma:CYP3A5 | bone marrow cancer:CYP3A5 | kidney disease:CYP3A5 | ataxia telangiectasia:MCM7 | polycystic ovary syndrome:CYP3A7 | prostate cancer:MCM7 | male reproductive organ cancer:MCM7 | influenza:CPSF4 | astrocytoma:MCM7 | toxic encephalopathy:CYP3A5 | specific developmental disorder:AP4M1 | autosomal recessive disease:MCM7 | female reproductive organ cancer:STAG3 | cerebral palsy:AP4M1 | modulation by virus of host morphology or physiology:CPSF4,RRAGA | modification by symbiont of host morphology or physiology:CPSF4,RRAGA | modulation by virus of host process:CPSF4 | immune response-activating signal transduction:ARPC1A,ARPC1B,PVRIG | modulation by symbiont of host cellular process:CPSF4 | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B,PVRIG | modification of morphology or physiology of other organism involved in symbiotic interaction:CPSF4,RRAGA | cellular response to xenobiotic stimulus:CYP3A5,CYP3A7,MCM7 | response to xenobiotic stimulus:CYP3A5,CYP3A7,MCM7 | antigen receptor-mediated signaling pathway:PVRIG | oxidative demethylation:CYP3A5 | drug catabolic process:CYP3A5 | modification of morphology or physiology of other organism:CPSF4,RRAGA | DNA replication initiation:MCM7 | protein localization to vacuole:AP4M1 | xenobiotic metabolic process:CYP3A5,CYP3A7 | ephrin receptor signaling pathway:ARPC1A,ARPC1B | steroid metabolic process:CYP3A5,CYP3A7 | sulfur compound metabolic process:GAL3ST4 | interaction with host:CPSF4,RRAGA | nucleocytoplasmic transport:CPSF4 | protein localization to lysosome:AP4M1 | nuclear transport:CPSF4 | drug metabolic process:CYP3A5 | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | positive regulation of TOR signaling:RRAGA | cellular response to epidermal growth factor stimulus:MCM7 | response to epidermal growth factor:MCM7 | protein targeting to vacuole:AP4M1 | cellular response to amino acid starvation:RRAGA | mRNA cleavage:CPSF4 | actin nucleation:ARPC1A,ARPC1B | post-translational protein modification:COPS6 | response to drug:MCM7 | lipid modification:CYP3A5,CYP3A7 | protein export from nucleus:CPSF4 | phagocytosis:ARPC1A,ARPC1B | mRNA cleavage involved in mRNA processing:CPSF4 | demethylation:CYP3A5 | cellular response to amino acid stimulus:RRAGA | regulation of autophagy:RRAGA | positive regulation of protein complex assembly:ARPC1A,ARPC1B | negative regulation of autophagy:RRAGA | nuclear export:CPSF4 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | regulation of macroautophagy:RRAGA | mitochondrial membrane organization:ATP5J2 | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | nucleic acid phosphodiester bond hydrolysis:CPSF4 | RNA phosphodiester bond hydrolysis:CPSF4 | negative regulation of immune system process:PVRIG | negative regulation of cellular catabolic process:RRAGA | snRNA metabolic process:MEPCE | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | regulation of TOR signaling:RRAGA | RNA splicing, via endonucleolytic cleavage and ligation:CPSF4 | autophagy:RRAGA | process utilizing autophagic mechanism:RRAGA | cytolysis:RRAGA | negative regulation of mitotic cell cycle phase transition:ZNF655 | negative regulation of catabolic process:RRAGA | regulation of protein complex assembly:ARPC1A,ARPC1B | DNA-templated transcription, termination:CPSF4 | negative regulation of cell cycle phase transition:ZNF655 | 0.0119182 | 0.0281879 | 0.172323210587351 | -0.00709707 | 0.0250531 | 0.109576745454612 | 0.00742526 | 0.0565208 | 0.0479436244243246 | 0.00486692 | 0.0310131 | 0.057836125257949 | -0.0315546 | 0.0330116 | 0.469400780963114 | 0.0779349 | 0.0646707 | 0.640988371974764 | -0.00388626 | 0.0231382 | 0.0621652788755655 | -0.0364383 | 0.0259953 | 0.792564920682231 | 0.061783 | 0.0453484 | 0.760695514625513 | -0.128029 | 0.0173991 | 12.7300249881969 | -0.118528 | 0.0217692 | 7.28501928662517 | -0.137454 | 0.0278273 | 6.10620440533476 | 0.0187177 | 0.0181453 | 0.519583402868016 | -0.0323111 | 0.0167963 | 1.26446257648196 | -0.0279201 | 0.0207303 | 0.749492171733047 | -0.00679848 | 0.00997489 | 0.304940564874592 | -0.0174802 | 0.0128949 | 0.756386582218142 | 0.00657176 | 0.0155847 | 0.171818477373989 | 0.0679441 | 0.0462989 | 0.846502210153703 | 0.107996 | 0.0570261 | 1.23305279386395 | -0.0106692 | 0.0793318 | 0.0491213073729879 | ||||||||||
rs17601876:51553909:A:G | known [3, 4] | 15 | 51553909 | 15q21.2 | G | A | 0.999 | 77 | E2 ALL | 6798 | 12.3343871181176 | 0.489910856134157 | 2.30876 | RP11-108K3.1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP19A1 (0 kb, intron/Intron/MODIFIER); MIR4713 (19 kb); GLDN (80 kb) | 1 Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer // 0.682 Menarche (age at onset) // 0.525 Endometrial cancer // 0.525 Endometrial endometrioid carcinoma // 0.525 Total body bone mineral density // 0.458 Hormone measurements // 0.458 Follicule stimulating hormone // 0.454 Estradiol levels // 0.454 Estrone levels // 0.342 Cerebrospinal fluid AB1-42 levels | AP4E1 | CYP19A1 | DCAF13P3 | DMXL2 | GABPB1-AS1 | GLDN | GNB5 | LYSMD2 | MAPK6 | MYO5C | RP11-108K3.1 | RP11-707P17.2 | SPPL2A | TMOD2 | TRPM7 | USP8 | Steroid hormone biosynthesis:CYP19A1 | Endocytosis:USP8 | Kaposi sarcoma-associated herpesvirus infection:GNB5 | Human cytomegalovirus infection:GNB5 | Lysosome:AP4E1 | Cytochrome P450 - arranged by substrate type:CYP19A1 | Metabolism of steroid hormones:CYP19A1 | Phase I - Functionalization of compounds:CYP19A1 | Endogenous sterols:CYP19A1 | Metabolic disorders of biological oxidation enzymes:CYP19A1 | Biological oxidations:CYP19A1 | Chaperonin-mediated protein folding:GNB5 | endocrine system disease:CYP19A1 | hepatitis:GNB5 | hepatitis B:GNB5 | male reproductive system disease:CYP19A1 | male infertility:CYP19A1 | hyperandrogenism:CYP19A1 | gonadal disease:CYP19A1 | polycystic ovary syndrome:CYP19A1 | reproductive system disease:CYP19A1 | prostate disease:CYP19A1 | sex differentiation disease:CYP19A1 | essential hypertension:CYP19A1 | osteoporosis:CYP19A1 | bone resorption disease:CYP19A1 | cell type benign neoplasm:CYP19A1 | infertility:CYP19A1 | sporadic breast cancer:CYP19A1 | ovarian disease:CYP19A1 | female reproductive organ cancer:CYP19A1 | cerebral palsy:AP4E1 | tumor necrosis factor-mediated signaling pathway:SPPL2A | cellular response to tumor necrosis factor:SPPL2A | chronic inflammatory response:CYP19A1 | response to tumor necrosis factor:SPPL2A | regulation of chronic inflammatory response:CYP19A1 | cellular hormone metabolic process:CYP19A1 | steroid catabolic process:CYP19A1 | hormone biosynthetic process:CYP19A1 | steroid metabolic process:CYP19A1 | hormone metabolic process:CYP19A1 | mammary gland development:CYP19A1 | androgen metabolic process:CYP19A1 | steroid biosynthetic process:CYP19A1 | regulation of tumor necrosis factor-mediated signaling pathway:SPPL2A | protein folding:GNB5 | estrogen biosynthetic process:CYP19A1 | ketone biosynthetic process:CYP19A1 | negative regulation of immune system process:CYP19A1 | protein deubiquitination:USP8 | negative regulation of chemotaxis:CYP19A1 | calcium ion transmembrane transport:GNB5 | protein modification by small protein removal:USP8 | lipid transport:CYP19A1,TNFAIP8L3 | regulation of leukocyte chemotaxis:CYP19A1 | lipid localization:CYP19A1,TNFAIP8L3 | 0.0272259 | 0.0166617 | 0.989691561128922 | -0.00243341 | 0.0149764 | 0.0600067765048384 | 0.0828909 | 0.0329852 | 1.92183691943204 | 0.0144801 | 0.01834 | 0.366641646977089 | 0.00296994 | 0.0197401 | 0.055305167603832 | 0.0383274 | 0.0374233 | 0.514122482640886 | 0.0037359 | 0.0136849 | 0.105193970673964 | -0.00431526 | 0.0155502 | 0.107107696654686 | 0.0205378 | 0.0262575 | 0.362132178632265 | -0.00263696 | 0.0100011 | 0.101254529874527 | -0.0185079 | 0.0124609 | 0.861792067331837 | -0.0116514 | 0.00984153 | 0.626255171497654 | -0.0226742 | 0.0103759 | 1.53957728575651 | 0.00463487 | 0.0167361 | 0.106889335504521 | 0.0694361 | 0.00959628 | 12.3343871181176 | 0.07022449 | 0.01173398 | 8.663996 | 0.063851 | 0.0154557 | 4.44267208683599 | 0.00171458 | 0.00573495 | 0.116359570446954 | 0.00199223 | 0.0074026 | 0.103565831831343 | 5.24171E-4 | 0.00898758 | 0.0206829464254538 | 0.0258039 | 0.0274827 | 0.458560551487147 | 0.0168536 | 0.0342593 | 0.20562071485436 | 0.0418843 | 0.0459939 | 0.440330327492401 | ||||
rs80193476:99433590:A:T | 7 | 99433590 | 7q22.1 | T | A | 0.899 | 5 | DHEAS ALL | 7659 | 12.19307557796 | 0.0406460373416895 | 0.403526 | CYP3A43 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP3A52P (36 kb); OR2AE1 (40 kb); TRIM4 (41 kb) | 0.792 Metabolic traits // 0.792 Dehydroepiandrosterone sulphate levels // 0.792 Estrone levels // 0.391 Blood protein levels // 0.355 Sex hormone levels // 0.355 Total body bone mineral density (age over 60) // 0.355 Total body bone mineral density // 0.355 Femoral neck bone mineral density // 0.355 Lumbar spine bone mineral density | - | AP4M1 | ARPC1B | C7orf43 | C7orf59 | CNPY4 | COPS6 | CYP3A7 | EPHB4 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | MCM7 | MEPCE | NYAP1 | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | SAP25 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | STAG3OS | TAF6 | TRIM4 | TRIP6 | TSC22D4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNHIT1 | ZSCAN21 | TIMP1 | Herpes simplex infection:PILRA | Chemical carcinogenesis:CYP3A4,CYP3A43 | Metabolism of xenobiotics by cytochrome P450:CYP3A4 | Steroid hormone biosynthesis:CYP3A4 | Drug metabolism - cytochrome P450:CYP3A4 | Drug metabolism - other enzymes:CYP3A4 | Retinol metabolism:CYP3A4 | Bile secretion:CYP3A4 | Lysosome:AP4M1 | Xenobiotics:CYP3A4,CYP3A43 | Biological oxidations:CYP3A4,CYP3A43 | Cytochrome P450 - arranged by substrate type:CYP3A4,CYP3A43 | Phase I - Functionalization of compounds:CYP3A4,CYP3A43 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | Aflatoxin activation and detoxification:CYP3A4 | aplastic anemia:CYP3A4 | multiple myeloma:CYP3A4 | myeloma:CYP3A4 | bone marrow cancer:CYP3A4 | Human immunodeficiency virus infectious disease:CYP3A4 | hematopoietic system disease:CYP3A4 | prostate cancer:CYP3A43 | male reproductive organ cancer:CYP3A43 | osteoporosis:CYP3A4 | bone resorption disease:CYP3A4 | specific developmental disorder:AP4M1 | anemia:CYP3A4 | autosomal recessive disease:CYP3A4 | liver cirrhosis:CYP3A4 | cerebral palsy:AP4M1 | coronary artery disease:CYP3A4 | steroid catabolic process:CYP3A4 | cellular response to xenobiotic stimulus:CYP3A4 | response to xenobiotic stimulus:CYP3A4 | oxidative demethylation:CYP3A4 | drug catabolic process:CYP3A4 | cellular hormone metabolic process:CYP3A4 | protein localization to vacuole:AP4M1 | xenobiotic metabolic process:CYP3A4 | steroid metabolic process:CYP3A4 | protein localization to lysosome:AP4M1 | drug metabolic process:CYP3A4 | hormone metabolic process:CYP3A4 | protein targeting to vacuole:AP4M1 | androgen metabolic process:CYP3A4 | response to drug:CYP3A4 | lipid modification:CYP3A4 | vitamin D biosynthetic process:CYP3A4 | steroid biosynthetic process:CYP3A4 | demethylation:CYP3A4 | fat-soluble vitamin biosynthetic process:CYP3A4 | snRNA metabolic process:MEPCE | 0.0284362 | 0.041549 | 0.306450673397045 | 0.0164859 | 0.0371801 | 0.182075841238061 | 0.0137785 | 0.0829782 | 0.0614212388029801 | 0.0300648 | 0.0457121 | 0.291744010093846 | -0.00590067 | 0.0490094 | 0.0437427019812908 | 0.0981351 | 0.0941322 | 0.526476536134149 | 0.00133906 | 0.0341084 | 0.0138160802219482 | -0.0153371 | 0.0386057 | 0.160379306232296 | 0.0328541 | 0.0660653 | 0.2082153458709 | -0.194554 | 0.0270536 | 12.19307557796 | -0.221598 | 0.034685 | 9.77698456671428 | -0.165746 | 0.0420886 | 4.08539454687549 | -0.0179881 | 0.0262056 | 0.307639622030041 | 0.0225776 | 0.028827 | 0.363005889053084 | -0.0594041 | 0.0433251 | 0.768693555507339 | -0.041145 | 0.0263863 | 0.924752403505679 | -0.0217482 | 0.0333754 | 0.28849224222742 | -0.0549241 | 0.0406304 | 0.753405412329317 | -0.0089073 | 0.0154209 | 0.249086041647976 | -0.0423054 | 0.0203524 | 1.42424078702458 | 0.0279808 | 0.0234923 | 0.63147139102061 | 0.0291433 | 0.0685369 | 0.17345744836055 | 0.0501714 | 0.0848194 | 0.256269224650555 | -0.00775715 | 0.116541 | 0.0236729516169649 | |
rs11575837:31560670:C:T | 6 | 31560670 | 6p21.33 | T | C | 0.988 | 165 | OHP17 ALL | 2070 | 12.1100336353341 | 0.0129900966183575 | NCR3 (0 kb, 5'utr/5 prime UTR/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); LST1 (4 kb, near gene/Downstream gene/MODIFIER); LTB (10 kb); TNF (15 kb); UQCRHP1 (18 kb); LTA (19 kb); AIF1 (22 kb); PRRC2A (28 kb); SNORA38 (30 kb); NFKBIL1 (34 kb); ATP6V1G2 (44 kb); BAG6 (46 kb); ATP6V1G2-DDX39B (46 kb); DDX39B-AS1 (50 kb) | 0.943 Blood protein levels // 0.721 Plantar warts // 0.721 Response to angiotensin II receptor blocker therapy // 0.314 Mumps | - | ABCF1 | ABHD16A | AGER | AIF1 | APOM | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DHX16 | DOM3Z | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCG4B | HCG4P3 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-E | HLA-H | HLA-J | HLA-T | HLA-W | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6E | MCCD1 | MDC1 | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NRM | PBX2 | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | PSMB8 | PSMB9 | PSORS1C1 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | TCF19 | TNF | TRIM10 | TRIM39 | TUBB | unnamed | VARS | VARS2 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | Y RNA | ZBTB12 | ZNRD1 | BTN3A2 | CDC42EP4 | HLA-A | HLA-DQA1 | HLA-DQA2 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-F | HLA-H | HLA-V | IER3 | NHP2 | PARP2 | PDIA6 | PSMB9 | TAP2 | TMEM154 | XRCC6 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L,TAP2,TNF | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Staphylococcus aureus infection:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Phagosome:ATP6V1G2,HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TAP2,TNF | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:ATP6V1G2,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,LTB,TNF | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Systemic lupus erythematosus:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Influenza A:DDX39B,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Natural killer cell mediated cytotoxicity:HLA-C,HLA-E,NCR3,TNF | Endocytosis:HLA-C,HLA-E,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L,TNF | Human cytomegalovirus infection:ATF6B,HLA-C,HLA-E,TAP2,TNF | Kaposi sarcoma-associated herpesvirus infection:HLA-C,HLA-E | Viral carcinogenesis:ATF6B,GTF2H4,HLA-C,HLA-E | Spliceosome:DDX39B,HSPA1A,HSPA1B,HSPA1L,LSM2 | Human immunodeficiency virus 1 infection:HLA-C,HLA-E,TAP2,TNF | NF-kappa B signaling pathway:LTA,LTB,TNF | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L,RNF5 | Cellular senescence:HLA-C,HLA-E | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:ATP6V1G2,HLA-C,HLA-E,TNF | Pertussis:TNF | TNF signaling pathway:ATF6B,LTA,TNF | Aminoacyl-tRNA biosynthesis:VARS2 | Type II diabetes mellitus:TNF | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C,HLA-E | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,HLA-E,TAP2 | ER-Phagosome pathway:HLA-C,HLA-E,TAP2 | Antigen processing-Cross presentation:HLA-C,HLA-E,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,HLA-E,NCR3 | Interferon alpha/beta signaling:HLA-C,HLA-E | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:GTF2H4,HSPA1A,HSPA1B | TNFR2 non-canonical NF-kB pathway:LTA,LTB,TNF | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:LTA,LTB | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:GTF2H4 | HIV Infection:GTF2H4 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,HLA-E,TAP2 | HIV Transcription Elongation:GTF2H4 | Formation of HIV-1 elongation complex containing HIV-1 Tat:GTF2H4 | Tat-mediated elongation of the HIV-1 transcript:GTF2H4 | Formation of HIV elongation complex in the absence of HIV Tat:GTF2H4 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:RNF5 | Formation of RNA Pol II elongation complex :GTF2H4 | RNA Polymerase II Transcription Elongation:GTF2H4 | Formation of the Early Elongation Complex:GTF2H4 | Formation of the HIV-1 Early Elongation Complex:GTF2H4 | ABC-family proteins mediated transport:ABCF1,RNF5 | HIV Life Cycle:GTF2H4 | RNA Polymerase I Promoter Escape:GTF2H4,ZNRD1 | Transcription of the HIV genome:GTF2H4 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:GTF2H4 | RNA Polymerase I Transcription Termination:GTF2H4,ZNRD1 | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Initiation:GTF2H4,ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1 | ABC transporter disorders:RNF5 | Influenza Life Cycle:HSPA1A,HSPA1B | RNA Polymerase II Pre-transcription Events:GTF2H4 | Transcriptional regulation of white adipocyte differentiation:TNF | Dual Incision in GG-NER:GTF2H4 | tRNA Aminoacylation:VARS2 | Formation of Incision Complex in GG-NER:GTF2H4 | Late Phase of HIV Life Cycle:GTF2H4 | Deadenylation-dependent mRNA decay:LSM2,SKIV2L | Chaperonin-mediated protein folding:SKIV2L | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection:GTF2H4 | RNA Pol II CTD phosphorylation and interaction with CE:GTF2H4 | RNA Polymerase I Promoter Clearance:GTF2H4,ZNRD1 | RNA Polymerase I Transcription:GTF2H4,ZNRD1 | mRNA Capping:GTF2H4 | Kawasaki disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymphadenitis:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymph node disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymphatic system disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | leprosy:HLA-DRB1,LTA,TNF | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA,TNF | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA,TNF | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:ABCF1,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,LTA,TAP2,TNF | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1,TNF | primary bacterial infectious disease:FLOT1,HLA-DRB1,LTA,TAP2,TNF | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3,TNF | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | vitiligo:DDR1,HLA-C,TNF | spondylitis:HLA-C,HLA-E,TNF | ankylosing spondylitis:HLA-C,HLA-E,TNF | rheumatic fever:HLA-DQA1,HLA-DRB1,TNF | bacterial infectious disease:FLOT1,HLA-DRB1,LTA,TAP2,TNF | aplastic anemia:HLA-DQA1,HLA-DRB1,TNF | urticaria:HLA-DRB1,TNF | spondyloarthropathy:HLA-C,HLA-E,TNF | vasculitis:DDR1,HLA-DRB1,HLA-E,TNF | hypothyroidism:HLA-DRB1,TNF | Behcet's disease:HLA-DRB1,HLA-E,TNF | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3,TNF | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | arthropathy:HLA-C,HLA-E,TNF | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A,TAP2,TNF | malaria:HLA-DRB1,LTA,NCR3,PRRC2A,TNF | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1,TNF | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1,LTA | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA,HLA-E,TNF | neuromuscular junction disease:HLA-DQA1,HLA-DRA,HLA-E,TNF | brucellosis:TAP2,TNF | duodenal ulcer:HSPA1A,LTA,TNF | cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1,TNF | upper respiratory tract disease:HLA-C,HSPA1A,TAP2,TNF | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A,TNF | urinary system disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | multiple myeloma:BAG6,IER3,LTA,NCR3,TNF | myeloma:BAG6,IER3,LTA,NCR3,TNF | reproductive system disease:HLA-DRB1,HLA-E,HSPA1A,LTA,MSH5,TNF | bone marrow cancer:BAG6,IER3,LTA,NCR3,TNF | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L,TNF | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | complex regional pain syndrome:TNF | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1,TNF | type 1 diabetes mellitus:HLA-DQA1,LTA,TNF | blood coagulation disease:HLA-DRA,HLA-DRB1,LTA | allergic rhinitis:HLA-C,TAP2,TNF | hemorrhagic disease:HLA-DRA,HLA-DRB1,LTA | neuromuscular disease:HLA-DQA1,HLA-DRA,HLA-E,TNF | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2,TNF | nose disease:HLA-C,TAP2,TNF | rhinitis:HLA-C,TAP2,TNF | collagen disease:AIF1,HLA-DRB1,TAP2,TNF | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:ABCF1,HLA-DRB1,HSPA1B,LTA,TNF | nephritis:AIF1,HLA-DQA1,HLA-DRB1,TNF | periodontitis:TNF | celiac disease:HLA-DQA1,HLA-DRB1,TNF | peptic ulcer disease:HSPA1A,LTA,TNF | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | gestational diabetes:TNF | esophageal varix:TNF | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1,HLA-E,TNF | rheumatic disease:AIF1,HLA-DRB1,TAP2,TNF | systemic scleroderma:AIF1,HLA-DRB1,TAP2,TNF | scleroderma:AIF1,HLA-DRB1,TAP2,TNF | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5,TNF | male infertility:HLA-DRB1,MSH5,TNF | silicosis:HLA-DRB1,TNF | integumentary system disease:HLA-DQA1,HLA-DRB1,TNF | polycystic ovary syndrome:TNF | sickle cell anemia:HLA-DRB1,HLA-E,TNF | periodontal disease:TNF | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2,TNF | alpha 1-antitrypsin deficiency:TNF | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1,TNF | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B,TNF | interstitial lung disease:DDR1,HLA-DRB1,TNF | bronchial disease:HSPA1A,HSPA1B,LTA,TAP2,TNF | acute pancreatitis:HSPA1B,LTA | acne:TNF | sebaceous gland disease:TNF | tuberculosis:HLA-DRB1,TNF | Vogt-Koyanagi-Harada disease:HLA-DRB1 | dengue hemorrhagic fever:LTA,TNF | autonomic nervous system disease:TNF | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1,TNF | aortic valve disease:TNF | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1,TNF | tooth disease:TNF | dengue disease:LTA,TNF | autoimmune disease of peripheral nervous system:HLA-DRB1,TNF | Guillain-Barre syndrome:HLA-DRB1,TNF | pancreas disease:ABCF1,HLA-DRB1,HSPA1B,LTA,TNF | open-angle glaucoma:HLA-DRB1,TAP2,TNF | varicose veins:TNF | influenza:HLA-DRB1,TNF | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1,TNF | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA,TAP2,TNF | ovarian disease:MSH5 | neutropenia:TNF | agranulocytosis:TNF | gastritis:HLA-DRB1,TNF | dermatomyositis:HLA-DRB1,TNF | essential hypertension:HSPA1A,HSPA1B,HSPA1L,LTA | female reproductive system disease:LTA,MSH5,TNF | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA,HLA-E,TNF | plasma protein metabolism disease:TNF | mouth disease:TNF | osteoporosis:TNF | Sjogren's syndrome:NFKBIL1,TNF | bone resorption disease:TNF | migraine:HLA-DRB1,LTA,TNF | infertility:HLA-E,MSH5,TNF | peripheral nervous system disease:HLA-DRB1,TNF | age related macular degeneration:TNF | degeneration of macula and posterior pole:TNF | autoimmune disease of urogenital tract:HLA-DRB1,TNF | primary biliary cirrhosis:HLA-DRB1,TNF | cell type benign neoplasm:DDR1,TNF | macular degeneration:TNF | stomach disease:HLA-DRB1,TNF | cholangitis:HLA-C,HLA-DRB1 | pulmonary hypertension:TNF | Crohn's disease:HSPA1B,LTA | osteosarcoma:BAG6,TNF | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA,TNF | spinal cord disease:HLA-C,HLA-DRB1 | gallbladder carcinoma:CLIC1,TNF | heart valve disease:TNF | pulmonary edema:HSPA1A | aortic valve stenosis:TNF | gallbladder cancer:CLIC1,TNF | myositis:HLA-DRB1,TNF | lipodystrophy:TNF | leukopenia:TNF | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,LTA | myopathy:HLA-DRB1,TNF | muscle tissue disease:HLA-DRB1,TNF | bone cancer:BAG6,TNF | nasopharynx carcinoma:DDR1,HSPA1B | axonal neuropathy:TNF | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | cardiomyopathy:TNF | muscular disease:HLA-DRB1,TNF | endocrine organ benign neoplasm:DDR1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1,TNF | renal cell carcinoma:HLA-DRB1,TAP2 | muscular dystrophy:TNF | glaucoma:HLA-DRB1,TAP2,TNF | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1,TNF | retinal disease:HLA-DRB1,LTA,TAP2,TNF | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | vein disease:TNF | connective tissue cancer:BAG6,TNF | adenoma:DDR1 | primary open angle glaucoma:TAP2,TNF | severe combined immunodeficiency:HLA-DRB1,TNF | coronary artery disease:DDX39B,LTA,NFKBIL1,TNF | retinal degeneration:HLA-DRB1,TAP2,TNF | integumentary system cancer:LTA | skin cancer:LTA | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1,TNF | combined T cell and B cell immunodeficiency:HLA-DRB1,TNF | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | cellular response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3,NFKBIL1 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,HLA-E,TAP2 | regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,HLA-E,TAP2 | positive regulation of cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,HLA-E,TAP2 | positive regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | adaptive immune response:HLA-E,LTA,NCR3,TAP2,TNF | humoral immune response mediated by circulating immunoglobulin:LTA,TNF | natural killer cell mediated cytotoxicity:HLA-E,NCR3 | natural killer cell mediated immunity:HLA-E,NCR3 | T cell mediated cytotoxicity:HLA-E,NCR3 | response to type I interferon:HLA-C,HLA-E | type I interferon signaling pathway:HLA-C,HLA-E | cellular response to type I interferon:HLA-C,HLA-E | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LTA,LTB,TNF | leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of humoral immune response:LTA,TNF | positive regulation of defense response:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA,NCR3,NFKBIL1,TNF | positive regulation of cytokine production:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA,LTB,TNF | T cell mediated immunity:HLA-E,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:HLA-E,LTA,NCR3,TNF | positive regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,NCR3,NFKBIL1 | positive regulation of T cell proliferation:AIF1,HLA-E | regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | NIK/NF-kappaB signaling:TNF | regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,NCR3,NFKBIL1 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LTA,LTB,TNF | regulation of T cell proliferation:AIF1,HLA-E | cell killing:HLA-E,NCR3 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | positive regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | regulation of lymphocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | regulation of mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of natural killer cell mediated cytotoxicity:HLA-E,NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | chronic inflammatory response:LTA,TNF | positive regulation of adaptive immune response:HLA-E,LTA,NCR3,TNF | regulation of natural killer cell mediated immunity:HLA-E,NCR3 | interferon-gamma production:LTA,TNF | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | lymph node development:LTA,LTB | immunoglobulin mediated immune response:LTA,TNF | regulation of leukocyte proliferation:AIF1,HLA-E,LST1 | B cell mediated immunity:LTA,TNF | mRNA catabolic process:HSPA1A,HSPA1B,LSM2,SKIV2L | response to tumor necrosis factor:HSPA1A,HSPA1B,LTA,LTB,TNF | regulation of chronic inflammatory response:LTA,TNF | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:HLA-E,TAP2 | regulation of humoral immune response mediated by circulating immunoglobulin:LTA,TNF | positive regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | positive regulation of nitric oxide metabolic process:AIF1,DDAH2,TNF | regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3,TNF | activation of innate immune response:FLOT1,HSPA1A,HSPA1B,NFKBIL1 | regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3,TNF | T cell proliferation:AIF1,HLA-E | antigen processing and presentation of endogenous antigen:HLA-E,TAP2 | negative regulation of natural killer cell mediated cytotoxicity:HLA-E | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | positive regulation of inflammatory response to antigenic stimulus:LTA,TNF | positive regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | microtubule nucleation:HSPA1A,HSPA1B | positive regulation of phagocytosis:TNF | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | positive regulation of lymphocyte proliferation:AIF1,HLA-E | positive regulation of mononuclear cell proliferation:AIF1,HLA-E | positive regulation of heterotypic cell-cell adhesion:FLOT1,TNF | negative regulation of natural killer cell mediated immunity:HLA-E | regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | negative regulation of immune effector process:HLA-E,TNF | ER-associated misfolded protein catabolic process:BAG6,RNF5 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B,LSM2,SKIV2L | positive regulation of leukocyte proliferation:AIF1,HLA-E | positive regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | negative regulation of growth of symbiont in host:LTA,TNF | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L,RNF5 | negative regulation of leukocyte mediated cytotoxicity:HLA-E | positive regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of humoral immune response:LTA,TNF | regulation of growth of symbiont in host:LTA,TNF | negative regulation of growth of symbiont involved in interaction with host:LTA,TNF | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,TNF | DNA-templated transcription, elongation:DDX39B,GTF2H4,ZNRD1 | humoral immune response:HLA-E,LTA,TNF | regulation of acute inflammatory response:TNF | regulation of inclusion body assembly:HSPA1A,HSPA1B | modulation of growth of symbiont involved in interaction with host:LTA,TNF | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B,NFKBIL1 | regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | lymphocyte proliferation:AIF1,HLA-E,LST1 | negative regulation of phosphoprotein phosphatase activity:TNF | mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of immunoglobulin secretion:HLA-E,TNF | regulation of translational fidelity:VARS2 | positive regulation of interleukin-12 production:LTB | positive regulation of translational initiation:TNF | regulation of cell killing:HLA-E,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | negative regulation of cell killing:HLA-E | growth of symbiont in host:LTA,TNF | regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A,NHP2,RPP21,ZNRD1 | steroid metabolic process:TNF | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | growth involved in symbiotic interaction:LTA,TNF | growth of symbiont involved in interaction with host:LTA,TNF | regulation of adaptive immune response:HLA-E,LTA,NCR3,TNF | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,TNF | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B,RNF5 | positive regulation of interferon-gamma production:LTA,TNF | positive regulation of translation:DDX39B,TNF | nitric oxide biosynthetic process:AIF1,DDAH2,TNF | interleukin-8 production:HSPA1A,HSPA1B,TNF | regulation of heterotypic cell-cell adhesion:FLOT1,TNF | immunoglobulin secretion:HLA-E,TNF | positive regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B,TNF | interaction with host:DDX39B,HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | nucleocytoplasmic transport:DDX39B,NFKBIL1,TNF | positive regulation of natural killer cell mediated immunity:HLA-E,NCR3 | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | podosome assembly:TNF | nitric oxide metabolic process:AIF1,DDAH2,TNF | nuclear transport:DDX39B,NFKBIL1,TNF | cellular response to misfolded protein:BAG6,RNF5 | positive regulation of vascular smooth muscle cell proliferation:DDX39B,TNF | regulation of inflammatory response to antigenic stimulus:LTA,TNF | regulation of phagocytosis:TNF | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:AIF1,DDAH2,TNF | nuclear-transcribed mRNA catabolic process, exonucleolytic:LSM2,SKIV2L | positive regulation of mononuclear cell migration:AIF1,TNF | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,RNF5 | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1,DDX39B,TNF | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6,RNF5 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of organelle assembly:HSPA1A,HSPA1B,RNF5,TNF | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:RNF5 | regulation of endocytosis:FLOT1,TNF | cytoplasmic sequestering of transcription factor:NFKBIL1 | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:BAG6,RNF5 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1,TNF | negative regulation of multi-organism process:LTA,TNF,NFKBIL1 | negative regulation of protein dephosphorylation:TNF | defense response to Gram-positive bacterium:HLA-E,LTA,TNF | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A,RNF5 | positive regulation of immune effector process:HLA-E,LTA,NCR3,TNF | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:GTF2H4,ZNRD1 | termination of RNA polymerase I transcription:GTF2H4,ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:HLA-E,NCR3 | positive regulation of NIK/NF-kappaB signaling:TNF | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | positive regulation of cellular amide metabolic process:DDX39B,TNF | regulation of interleukin-12 production:LTB | nucleic acid phosphodiester bond hydrolysis:GTF2H4,HSPA1A,NHP2,RPP21,ZNRD1 | transcription initiation from RNA polymerase I promoter:GTF2H4,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:LSM2,SKIV2L | nuclear-transcribed mRNA catabolic process:LSM2,SKIV2L | positive regulation of B cell mediated immunity:LTA,TNF | positive regulation of immunoglobulin mediated immune response:LTA,TNF | interleukin-12 production:LTB | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of mitotic spindle organization:HSPA1A,HSPA1B | reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | CD8-positive, alpha-beta T cell activation:HLA-E | negative regulation of immune system process:HLA-DOB,HLA-E,LST1,TNF,NFKBIL1 | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | positive regulation of NF-kappaB import into nucleus:TNF | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | macroautophagy:ATP6V1G2,RNF5 | regulation of T cell mediated immunity:HLA-E,NCR3 | negative regulation of lymphocyte mediated immunity:HLA-E | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | cytoplasmic sequestering of protein:NFKBIL1 | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:DDX39B,GTF2H4,ZNRD1 | regulation of vascular smooth muscle cell proliferation:DDX39B,TNF | vascular smooth muscle cell proliferation:DDX39B,TNF | regulation of macroautophagy:ATP6V1G2,RNF5 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | regulation of interferon-gamma production:LTA,TNF | protein export from nucleus:DDX39B | viral life cycle:HSPA1A,HSPA1B,TNF | regulation of osteoblast differentiation:CLIC1,TNF | negative regulation of osteoblast differentiation:TNF | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | vitamin D biosynthetic process:TNF | protein localization to nucleus:NFKBIL1,TNF | positive regulation of protein polymerization:HSPA1A,HSPA1B | steroid biosynthetic process:TNF | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | regulation of mononuclear cell migration:AIF1,TNF | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | inflammatory response to antigenic stimulus:LTA,TNF | positive regulation of catabolic process:BAG6,HSPA1A,TNF | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | microglial cell activation:AIF1 | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | response to salt stress:TNF | positive regulation of cell killing:HLA-E,NCR3 | endothelial cell development:TNF | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | negative regulation of innate immune response:HLA-E | phagocytosis:AIF1,TNF | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of heat generation:TNF | regulation of autophagy:ATP6V1G2,RNF5 | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:LTA,TNF | synapsis:BAG6,MSH5 | macrophage activation:AIF1 | protein folding:HSPA1A,HSPA1B,HSPA1L | negative regulation of leukocyte mediated immunity:HLA-E | positive regulation of protein catabolic process:BAG6,HSPA1A,TNF | positive regulation of cellular catabolic process:BAG6,HSPA1A,TNF | acute inflammatory response:TNF | regulation of B cell mediated immunity:LTA,TNF | regulation of immunoglobulin mediated immune response:LTA,TNF | tRNA aminoacylation for protein translation:VARS2 | regulation of transcription factor import into nucleus:NFKBIL1,TNF | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:SKIV2L | extracellular matrix organization:DDR1,FLOT1,TNF | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1,DDX39B,TNF | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1,TNF | heterotypic cell-cell adhesion:FLOT1,TNF | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B,LTA,TNF | negative regulation of immune response:HLA-E,TNF | transcription factor import into nucleus:NFKBIL1,TNF | regulation of lipid catabolic process:TNF | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | transcription elongation from RNA polymerase II promoter:GTF2H4 | regulation of mRNA metabolic process:HSPA1A | regulation of NIK/NF-kappaB signaling:TNF | smooth muscle cell proliferation:AIF1,DDX39B,TNF | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | cellular response to amino acid stimulus:TNF | nuclear export:DDX39B | cleavage involved in rRNA processing:NHP2 | syncytium formation:FLOT1 | lipopolysaccharide-mediated signaling pathway:TNF | fat-soluble vitamin biosynthetic process:TNF | regulation of symbiosis, encompassing mutualism through parasitism:LTA,TNF | regulation of monooxygenase activity:DDAH2,TNF | positive regulation of cellular component biogenesis:FLOT1,GTF2H4,HSPA1A,HSPA1B,TNF | regulation of cellular protein catabolic process:BAG6,HSPA1A | defense response to bacterium:HLA-E,LTA,TNF | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF | glial cell activation:AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1 | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1,TNF | immunoglobulin production:HLA-E,TNF | reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of immunoglobulin production:HLA-E,TNF | viral genome replication:TNF | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:RNF5 | cellular response to ammonium ion:AIF1 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | positive regulation of cytokine biosynthetic process:LTB,TNF | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6,RNF5,TNF | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,RNF5 | negative regulation of autophagy:RNF5 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:GTF2H4,ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF,NFKBIL1 | gland morphogenesis:DDR1,TNF | endothelium development:TNF | regulation of phosphoprotein phosphatase activity:TNF | regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B,TNF | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | spindle organization:HSPA1A,HSPA1B | superoxide metabolic process:TNF | negative regulation of phosphatase activity:TNF | negative regulation of ossification:TNF | ruffle assembly:AIF1 | regulation of protein catabolic process:BAG6,HSPA1A,TNF | platelet activation:CLIC1 | negative regulation of mitotic cell cycle:TNF | DNA-templated transcription, initiation:GTF2H4,ZNRD1 | negative regulation of hydrolase activity:TNF | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | negative regulation of chemotaxis:AIF1 | negative regulation of transcription factor import into nucleus:NFKBIL1 | regulation of cell cycle phase transition:AIF1 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B,TNF | transcription initiation from RNA polymerase II promoter:GTF2H4 | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | multi-organism transport:DDX39B | multi-organism localization:DDX39B | autophagy:ATP6V1G2,RNF5 | process utilizing autophagic mechanism:ATP6V1G2,RNF5 | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | regulation of striated muscle tissue development:DDX39B,FLOT1 | positive regulation of striated muscle cell differentiation:DDX39B,FLOT1 | regulation of autophagosome assembly:RNF5 | protein complex localization:TNF | receptor internalization:FLOT1 | regulation of translational initiation:TNF | regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6,RNF5 | regulation of muscle tissue development:DDX39B,FLOT1 | regulation of multi-organism process:LTA,NFKBIL1,TNF | RNA localization to Cajal body:NHP2 | telomerase RNA localization to Cajal body:NHP2 | telomerase RNA localization:NHP2 | RNA localization to nucleus:NHP2 | heat generation:TNF | regulation of response to cytokine stimulus:HSPA1A,HSPA1B,TNF | 7-methylguanosine mRNA capping:GTF2H4 | negative regulation of fibroblast proliferation:LTA | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of leukocyte chemotaxis:AIF1 | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of defense response:HLA-E | translational initiation:TNF | 7-methylguanosine RNA capping:GTF2H4 | RNA capping:GTF2H4 | regulation of viral process:TNF | smooth muscle cell migration:AIF1,DDR1 | negative regulation of viral life cycle:TNF | negative regulation of leukocyte activation:LST1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:LSM2,SKIV2L | 0.0952747 | 0.0741737 | 0.700889478559598 | -0.0302276 | 0.119039 | 0.0971549155606244 | 0.58141 | 0.0806288 | 12.1100336353341 | 0.570743 | 0.129792 | 4.89825636194129 | 0.0824868 | 0.0608811 | 0.755468068883695 | 0.0870553 | 0.0922153 | 0.46159091712615 | 0.0240386 | 0.0402877 | 0.259065208400485 | 0.112006 | 0.0666056 | 1.03319864083765 | 0.0587986 | 0.0404269 | 0.836173971317767 | 0.163728 | 0.0653613 | 1.91199865212002 | 0.0403241 | 0.0382237 | 0.535438920587954 | -0.0489441 | 0.0621333 | 0.365666846813388 | 0.0170901 | 0.0233206 | 0.333800369121636 | 0.00647908 | 0.0367463 | 0.0654798345751871 | 0.209706 | 0.121231 | 1.07664560789673 | 0.133521 | 0.161474 | 0.388713329587092 | ||||||||||||||||||||||||||
rs7759215:31403625:C:G | 6 | 31403625 | 6p21.33 | G | C | 0.999 | 0 | OHP17 ALL | 2070 | 12.0699173666076 | 0.0135265700483092 | HCP5 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); LINC01149 (5.8 kb); MICA (21 kb); HLA-S (54 kb) | NA | HLA-C | MICA | MICB | NOTCH4 | XXbac-BPG181B23.7 | XXbac-BPG299F13.17 | Y RNA | ZBTB12 | Type I diabetes mellitus:HLA-C | Allograft rejection:HLA-C | Graft-versus-host disease:HLA-C | Antigen processing and presentation:HLA-C | Autoimmune thyroid disease:HLA-C | Viral myocarditis:HLA-C | Phagosome:HLA-C | Herpes simplex infection:HLA-C | Cell adhesion molecules (CAMs):HLA-C | Epstein-Barr virus infection:HLA-C | Human T-cell leukemia virus 1 infection:HLA-C | Natural killer cell mediated cytotoxicity:HLA-C,MICA | Endocytosis:HLA-C | Human cytomegalovirus infection:HLA-C | Kaposi sarcoma-associated herpesvirus infection:HLA-C,MICA | Viral carcinogenesis:HLA-C | Human immunodeficiency virus 1 infection:HLA-C | Cellular senescence:HLA-C | Human papillomavirus infection:HLA-C | Interferon gamma signaling:HLA-C | Interferon Signaling:HLA-C | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C | ER-Phagosome pathway:HLA-C | Antigen processing-Cross presentation:HLA-C | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,MICA | Interferon alpha/beta signaling:HLA-C | Class I MHC mediated antigen processing & presentation:HLA-C | Neutrophil degranulation:HLA-C | Kawasaki disease:HLA-C | lymphadenitis:HLA-C | lymph node disease:HLA-C | lymphatic system disease:HLA-C | leprosy:MICA | autoimmune disease of endocrine system:HLA-C | multiple sclerosis:HLA-C | endocrine system disease:HLA-C,MICA | demyelinating disease:HLA-C | Graves' disease:HLA-C | thyroid gland disease:HLA-C | hypersensitivity reaction type I disease:HCP5,HLA-C,MICA | primary bacterial infectious disease:MICA | hepatitis:HLA-C,MICA | hyperthyroidism:HLA-C | vitiligo:HLA-C | spondylitis:HLA-C,MICA | ankylosing spondylitis:HLA-C,MICA | bacterial infectious disease:MICA | urticaria:HCP5 | spondyloarthropathy:HLA-C,MICA | vasculitis:MICA | Behcet's disease:MICA | hepatitis C:HLA-C | arthropathy:HLA-C,MICA | hypotrichosis:MICA | tropical spastic paraparesis:HLA-C | hair disease:MICA | purpura:MICA | brucellosis:MICA | hepatitis B:HLA-C,MICA | upper respiratory tract disease:HLA-C | multiple myeloma:MICA | myeloma:MICA | reproductive system disease:MICA | bone marrow cancer:MICA | bile duct disease:HLA-C | biliary tract disease:HLA-C | alopecia:MICA | autoimmune disease of gastrointestinal tract:MICA | blood coagulation disease:MICA | allergic rhinitis:HLA-C | hemorrhagic disease:MICA | nasal cavity disease:HLA-C | nose disease:HLA-C | rhinitis:HLA-C | celiac disease:MICA | hematopoietic system disease:MICA | gestational diabetes:MICA | integumentary system disease:HCP5,MICA | adrenal cortex disease:MICA | Human immunodeficiency virus infectious disease:HLA-C | adrenal gland disease:MICA | interstitial lung disease:MICA | sclerosing cholangitis:HLA-C | lower respiratory tract disease:MICA | Addison's disease:MICA | adrenal cortical hypofunction:MICA | alopecia areata:MICA | infertility:MICA | cell type benign neoplasm:MICA | cholangitis:HLA-C | osteosarcoma:MICA | lung disease:MICA | spinal cord disease:HLA-C | bone cancer:MICA | endocrine organ benign neoplasm:MICA | gallbladder disease:MICA | cholelithiasis:MICA | skin disease:HCP5 | connective tissue cancer:MICA | adenoma:MICA | pulmonary fibrosis:MICA | antigen processing and presentation of exogenous peptide antigen:HLA-C | antigen processing and presentation of exogenous antigen:HLA-C | antigen processing and presentation of peptide antigen:HLA-C | antigen processing and presentation:HLA-C | interferon-gamma-mediated signaling pathway:HLA-C | cellular response to interferon-gamma:HLA-C | response to interferon-gamma:HLA-C | T cell activation:MICA | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C | regulation of lymphocyte activation:MICA | regulation of leukocyte activation:MICA | antigen processing and presentation of peptide antigen via MHC class I:HLA-C | lymphocyte mediated immunity:MICA | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:MICA | adaptive immune response:MICA | natural killer cell mediated cytotoxicity:MICA | natural killer cell mediated immunity:MICA | T cell mediated cytotoxicity:MICA | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | leukocyte mediated cytotoxicity:MICA | T cell mediated immunity:MICA | regulation of immune effector process:MICA | regulation of lymphocyte mediated immunity:MICA | regulation of innate immune response:MICA | cell killing:MICA | regulation of natural killer cell mediated cytotoxicity:MICA | regulation of natural killer cell mediated immunity:MICA | response to heat:MICA | regulation of leukocyte mediated immunity:MICA | negative regulation of natural killer cell mediated cytotoxicity:MICA | negative regulation of natural killer cell mediated immunity:MICA | regulation of leukocyte mediated cytotoxicity:MICA | negative regulation of immune effector process:MICA | gamma-delta T cell activation:MICA | immune response to tumor cell:MICA | negative regulation of leukocyte mediated cytotoxicity:MICA | regulation of cell killing:MICA | negative regulation of cell killing:MICA | response to temperature stimulus:MICA | response to tumor cell:MICA | natural killer cell activation:MICA | negative regulation of immune system process:MICA | negative regulation of lymphocyte mediated immunity:MICA | cytolysis:MICA | negative regulation of innate immune response:MICA | negative regulation of leukocyte mediated immunity:MICA | negative regulation of immune response:MICA | defense response to bacterium:MICA | negative regulation of defense response:MICA | negative regulation of leukocyte activation:MICA | 0.15951100000000001 | 0.0720506 | 1.56950730627816 | 0.564225 | 0.0783859 | 12.0699173666076 | 0.575344 | 0.125102 | 5.29853390910084 | 0.0624278 | 0.0591953 | 0.535021885372935 | 0.0676137 | 0.0890139 | 0.348959555763051 | 0.166228 | 0.117831 | 0.800025537469509 | 0.112269 | 0.155723 | 0.32680854360491 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
rs145214406:31040655:C:CAA | 6 | 31040655 | 6p21.33 | CAA | C | 0.992 | 0 | OHP17 ALL | 2070 | 11.9262523311848 | 0.0120420289855072 | RNU6-1133P (10 kb); HCG22 (13 kb); MUC22 (37 kb); C6orf15 (38 kb); PSORS1C1 (42 kb); CDSN (42 kb) | NA | DDR1 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | hypotrichosis:CDSN | hair disease:CDSN | integumentary system disease:CDSN | regulation of cell-cell adhesion:CDSN | extracellular matrix organization:C6orf15 | extracellular structure organization:C6orf15 | 0.101945 | 0.0762957 | 0.740795679718688 | -0.00304116 | 0.119882 | 0.00887985189937931 | 0.593265 | 0.0829549 | 11.9262523311848 | 0.565882 | 0.129698 | 4.83167638692441 | 0.0769567 | 0.0626298 | 0.65895542726213 | 0.062927 | 0.0921575 | 0.305443936150865 | 0.0275915 | 0.0437553 | 0.277109524700917 | 0.0592538 | 0.0733302 | 0.37771653692844 | 0.048064 | 0.0434451 | 0.570908543848325 | 0.147334 | 0.0691666 | 1.4793723813807 | 0.0499238 | 0.0415275 | 0.639612991615662 | -0.0230702 | 0.0673967 | 0.135417135759166 | 0.0115228 | 0.0252071 | 0.188705231273384 | 0.0158953 | 0.0400241 | 0.160357316463307 | 0.165049 | 0.124806 | 0.730080970212662 | 0.122821 | 0.161341 | 0.349917941019979 | |||||||||||||||||||||||||||||
rs77533229:43479638:G:A | novel4 | 2 | 43479638 | 2p21 | A | G | 0.834 | 1 | DHEAS WOMEN | 3358 | 11.7056396046769 | 0.0218878796902918 | 0.100822 | THADA (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); ZFP36L2 (26 kb); RNU6-958P (160 kb); RNU6-242P (160 kb) | NA | THADA | Cellular senescence:ZFP36L2 | cell type benign neoplasm:THADA | thyroid cancer:THADA,ZFP36L2 | endocrine organ benign neoplasm:THADA | adenoma:THADA | regulation of leukocyte activation:ZFP36L2 | regulation of lymphocyte activation:ZFP36L2 | cellular response to tumor necrosis factor:ZFP36L2 | T cell activation:ZFP36L2 | response to tumor necrosis factor:ZFP36L2 | cellular response to epidermal growth factor stimulus:ZFP36L2 | response to epidermal growth factor:ZFP36L2 | cellular response to fibroblast growth factor stimulus:ZFP36L2 | response to fibroblast growth factor:ZFP36L2 | mRNA catabolic process:ZFP36L2 | RNA catabolic process:ZFP36L2 | negative regulation of hydrolase activity:THADA | negative regulation of ion transmembrane transport:THADA | somatic stem cell population maintenance:ZFP36L2 | negative regulation of mitotic cell cycle phase transition:ZFP36L2 | negative regulation of transmembrane transport:THADA | negative regulation of cell cycle phase transition:ZFP36L2 | -0.0437251 | 0.0584349 | 0.342578881204411 | -0.0467416 | 0.0516626 | 0.436804978661987 | -0.0995086 | 0.123353 | 0.376915152213136 | -0.0368352 | 0.064293 | 0.24660310720921 | -0.0987407 | 0.0680628 | 0.832425709854082 | 0.0828756 | 0.135491 | 0.266841269200211 | -0.00351205 | 0.0479714 | 0.026112795295564 | -0.020864 | 0.053656 | 0.156486921391193 | 0.0262092 | 0.0950559 | 0.106326436964639 | -0.149331 | 0.0371098 | 4.24254930820895 | 0.0646403 | 0.0455445 | 0.807379587150932 | -0.425435 | 0.0604601 | 11.7056396046769 | 0.0130621 | 0.0377788 | 0.136957439494114 | -0.00976764 | 0.0354164 | 0.106401336990256 | 0.0423844 | 0.0433436 | 0.483943473257049 | -0.09594 | 0.0572581 | 1.02769346188742 | -0.0287865 | 0.0211038 | 0.763074968810671 | -0.0225615 | 0.0962893 | 0.0889655032175971 | -0.0388966 | 0.118077 | 0.129658141221815 | 0.0213734 | 0.166621 | 0.0467386559399626 | ||||||||||||||
6:32009354:T:C | 6 | 32009354 | 6p21.33 | C | T | 0.837 | 1 | OHP17 ALL | 2070 | 11.5913293467582 | 0.010216370531401 | CYP21A2 (0 kb, 3'utr/3 prime UTR/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); TNXB (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); C4B-AS1 (5.3 kb); C4B (6.2 kb); STK19P (28 kb); TNXA (29 kb); CYP21A1P (33 kb); RNA5SP206 (37 kb); C4A-AS1 (38 kb); C4A (39 kb) | NA | - | ABCF1 | ABHD16A | AIF1 | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DXO | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCP5 | HLA-B | HLA-C | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-E | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PPP1R11 | PRRC2A | PSMB8 | PSMB9 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | TCF19 | TNF | TRIM10 | unnamed | VARS | VARS2 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | ZBTB12 | BTN3A2 | FLOT1 | HLA-DQA1 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-F | HLA-H | IER3 | LINC00243 | VARS2 | ZNRD1 | Staphylococcus aureus infection:C4A,C4B | Systemic lupus erythematosus:C4A,C4B | Steroid hormone biosynthesis:CYP21A2 | Complement and coagulation cascades:C4A,C4B | Pertussis:C4A,C4B | Human papillomavirus infection:TNXB | Cortisol synthesis and secretion:CYP21A2 | Cytochrome P450 - arranged by substrate type:CYP21A2 | Initial triggering of complement:C4A,C4B,C4B 2 | Metabolism of steroid hormones:CYP21A2 | Phase I - Functionalization of compounds:CYP21A2 | Regulation of Complement cascade:C4A,C4B,C4B 2 | Endogenous sterols:CYP21A2 | Complement cascade:C4A,C4B,C4B 2 | Metabolic disorders of biological oxidation enzymes:CYP21A2 | Biological oxidations:CYP21A2 | multiple sclerosis:C4A | endocrine system disease:CYP21A2 | demyelinating disease:C4A | urinary system disease:C4A,C4B | purpura:C4B | proteinuria:C4A,C4B | kidney disease:C4A,C4B | blood coagulation disease:C4B | collagen disease:TNXB | hemorrhagic disease:C4B | nephritis:C4A,C4B | periodontitis:C4A,C4B | hematopoietic system disease:C4B | hyperandrogenism:CYP21A2 | integumentary system disease:C4A,CYP21A2 | polycystic ovary syndrome:CYP21A2 | periodontal disease:C4A,C4B | adrenal cortex disease:CYP21A2 | adrenal gland disease:CYP21A2 | acne:CYP21A2 | sebaceous gland disease:CYP21A2 | reproductive system disease:CYP21A2 | sex differentiation disease:CYP21A2 | tooth disease:C4A,C4B | lower respiratory tract disease:C4A | Addison's disease:CYP21A2 | gonadal disease:CYP21A2 | mouth disease:C4A,C4B | adrenal cortical hypofunction:CYP21A2 | cell type benign neoplasm:TNXB | lung disease:C4A | infertility:CYP21A2 | neurofibroma:TNXB | Henoch-Schoenlein purpura:C4B | hypersensitivity reaction type III disease:C4B | hypersensitivity vasculitis:C4B | renal cell carcinoma:C4A,C4B | skin disease:C4A,CYP21A2 | adenoma:TNXB | coronary artery disease:C4B | lymphocyte mediated immunity:C4A,C4B | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:C4A,C4B | adaptive immune response:C4A,C4B | humoral immune response mediated by circulating immunoglobulin:C4A,C4B | glucocorticoid metabolic process:CYP21A2 | regulation of humoral immune response:C4A,C4B | regulation of apoptotic cell clearance:C4A,C4B | glucocorticoid biosynthetic process:CYP21A2 | regulation of immune effector process:C4A,C4B | immunoglobulin mediated immune response:C4A,C4B | B cell mediated immunity:C4A,C4B | regulation of complement activation:C4A,C4B | regulation of protein activation cascade:C4A,C4B | cellular hormone metabolic process:CYP21A2 | mineralocorticoid biosynthetic process:CYP21A2 | mineralocorticoid metabolic process:CYP21A2 | hormone biosynthetic process:CYP21A2 | positive regulation of phagocytosis:C4A,C4B | complement activation:C4A,C4B | humoral immune response:C4A,C4B | regulation of acute inflammatory response:C4A,C4B | complement activation, classical pathway:C4A,C4B | apoptotic cell clearance:C4A,C4B | steroid metabolic process:CYP21A2 | extracellular matrix assembly:TNXB | regulation of phagocytosis:C4A,C4B | regulation of endocytosis:C4A,C4B | protein activation cascade:C4A,C4B | hormone metabolic process:CYP21A2 | positive regulation of endocytosis:C4A,C4B | collagen fibril organization:TNXA,TNXB | post-translational protein modification:C4A | regulation of protein processing:C4A,C4B | regulation of protein maturation:C4A,C4B | steroid biosynthetic process:CYP21A2 | phagocytosis:C4A,C4B | regulation of inflammatory response:C4A,C4B | acute inflammatory response:C4A,C4B | extracellular matrix organization:TNXA,TNXB | extracellular structure organization:TNXA,TNXB | negative regulation of hydrolase activity:C4A,C4B | negative regulation of proteolysis:C4A,C4B | 0.0959522 | 0.090228 | 0.54105108096779 | 0.00866304 | 0.154547 | 0.0198611314868144 | 0.691029 | 0.0981236 | 11.5913293467582 | 0.808789 | 0.165115 | 5.92133297339584 | 0.104204 | 0.0740464 | 0.797250204141037 | 0.144172 | 0.117636 | 0.656063876733499 | 0.0161869 | 0.0509319 | 0.124576975253019 | 0.118893 | 0.0832017 | 0.815274508205802 | 0.0383074 | 0.0507305 | 0.346613803166191 | 0.187129 | 0.0823089 | 1.63834392291184 | 0.0345017 | 0.0485196 | 0.321454307700426 | -0.0744194 | 0.0779427 | 0.468928744639915 | -0.0164607 | 0.0293819 | 0.240091283094439 | -0.0284315 | 0.0459856 | 0.270513659767286 | 0.406604 | 0.147439 | 2.23115626794226 | 0.453868 | 0.206239 | 1.55141424832256 | ||||||||||||||||||||||||||
rs296360:48388658:T:C | known [10] | 19 | 48388658 | 19q13.33 | C | T | 0.988 | 101 | DHEAS ALL | 7659 | 11.4516523547738 | 0.173465008486747 | 0.0784955 | SULT2A1 (0 kb, intron/Intron/MODIFIER); TPRX2P (24 kb); CRX (42 kb); TPRX1 (66 kb) | 0.984 Blood metabolite levels // 0.984 Blood metabolite ratios // 0.984 Gallstone disease // 0.719 Dehydroepiandrosterone sulphate levels // 0.719 Sex hormone levels | CABP5 | CTD-3098H1.2 | EMP3 | GLTSCR1 | GLTSCR2 | LIG1 | PRR24 | SEPW1 | SULT2A1 | TMEM160 | VRK3 | Herpes simplex infection:NOP53 | Chemical carcinogenesis:SULT2A1 | Metabolism of xenobiotics by cytochrome P450:SULT2A1 | Bile secretion:SULT2A1 | Biological oxidations:SULT2A1 | Phase II - Conjugation of compounds:SULT2A1 | multiple myeloma:SELENOW | myeloma:SELENOW | bone marrow cancer:SELENOW | polycystic ovary syndrome:SULT2A1 | integumentary system disease:NOP53 | immune response-activating signal transduction:NOP53 | steroid catabolic process:SULT2A1 | regulation of immune effector process:NOP53 | steroid metabolic process:SULT2A1 | sulfur compound metabolic process:SULT2A1 | sperm capacitation:BSPH1 | nucleocytoplasmic transport:NOP53 | nuclear transport:NOP53 | protein stabilization:NOP53 | positive regulation of cytokine production:NOP53 | protein localization to nucleoplasm:NOP53 | regulation of protein stability:NOP53 | protein export from nucleus:NOP53 | protein localization to nucleus:NOP53 | negative regulation of proteolysis involved in cellular protein catabolic process:NOP53 | regulation of defense response to virus:NOP53 | nuclear export:NOP53 | positive regulation of defense response:NOP53 | negative regulation of cellular protein catabolic process:NOP53 | negative regulation of cellular catabolic process:NOP53 | regulation of protein modification by small protein conjugation or removal:NOP53 | regulation of protein kinase B signaling:NOP53 | negative regulation of mitotic cell cycle phase transition:NOP53 | negative regulation of catabolic process:NOP53 | negative regulation of proteolysis:NOP53 | positive regulation of innate immune response:NOP53 | regulation of protein complex assembly:NOP53 | negative regulation of cell cycle phase transition:NOP53 | ncRNA transcription:NOP53 | -0.0204121 | 0.0224773 | 0.438992882800751 | -0.0177179 | 0.020436 | 0.413302448029443 | -0.0332925 | 0.0447364 | 0.340311935716469 | -0.0780676 | 0.0246745 | 2.80151886543607 | -0.0332243 | 0.0269285 | 0.662554716227941 | -0.161036 | 0.0490999 | 2.9626412413437 | -5.31247E-4 | 0.0184537 | 0.0100894339134606 | 0.0374142 | 0.0212008 | 1.10885296955123 | -0.0699805 | 0.0346005 | 1.36153869853243 | -0.0922151 | 0.0132595 | 11.4516523547738 | -0.0489511 | 0.0166344 | 2.48771193156156 | -0.142747 | 0.0211364 | 10.8409684861503 | -0.00474807 | 0.0131364 | 0.144015907570358 | 0.0175793 | 0.0138913 | 0.686772042252513 | -0.0320818 | 0.02214 | 0.831723550232813 | 0.0440163 | 0.0127762 | 3.24359517140411 | 0.0359022 | 0.0156914 | 1.65489104429046 | 0.0443888 | 0.0204591 | 1.52237814760041 | -0.00709862 | 0.00763634 | 0.452733704323552 | 0.00795425 | 0.00991402 | 0.374311049296907 | -0.0237809 | 0.0118826 | 1.3433451458435 | -0.00775464 | 0.037235 | 0.0782895999704003 | 0.026746 | 0.0467824 | 0.245944605998863 | -0.0656949 | 0.0615359 | 0.543504912512834 |
rs151302046:30775131:G:A | 6 | 30775131 | 6p21.33 | A | G | 0.989 | 0 | OHP17 ALL | 2070 | 11.2452527248307 | 0.0113304347826087 | LINC00243 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); HCG20 (15 kb); RN7SL353P (56 kb); RN7SKP186 (57 kb) | 1 Plantar warts // 1 Response to angiotensin II receptor blocker therapy // 0.717 Blood protein levels | - | ABCF1 | ABHD16A | AIF1 | APOM | ATF6B | ATP6V1G2 | BAG6 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DHX16 | DXO | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG27 | HCG4B | HCG4P3 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB6 | HLA-E | HLA-H | HLA-T | HLA-W | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6E | MCCD1 | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NRM | PBX2 | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TNF | TRIM10 | TRIM39 | TUBB | unnamed | VARS2 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | Y RNA | ZNRD1 | C4A | C4B | C4B 2 | C6orf10 | DXO | HLA-DQA1 | HLA-DRB1 | HLA-F | HLA-G | HLA-H | HLA-V | NHP2 | PARP2 | STK19 | TAP2 | TMEM154 | Type I diabetes mellitus:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Allograft rejection:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Graft-versus-host disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Antigen processing and presentation:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Autoimmune thyroid disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Viral myocarditis:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Staphylococcus aureus infection:HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Phagosome:ATP6V1G2,HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TUBB | Herpes simplex infection:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Intestinal immune network for IgA production:HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:ATP6V1G2,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Inflammatory bowel disease (IBD):HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Toxoplasmosis:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Systemic lupus erythematosus:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Cell adhesion molecules (CAMs):HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Leishmaniasis:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Influenza A:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Hematopoietic cell lineage:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Epstein-Barr virus infection:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Th1 and Th2 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Natural killer cell mediated cytotoxicity:HLA-A,HLA-C,NCR3,TNF | Endocytosis:HLA-A,HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L,TNF | Human cytomegalovirus infection:ATF6B,HLA-A,HLA-C,TNF | Kaposi sarcoma-associated herpesvirus infection:HLA-A,HLA-C | Viral carcinogenesis:ATF6B,HLA-A,HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-A,HLA-C,TNF | NF-kappa B signaling pathway:TNF | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-A,HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:ATP6V1G2,HLA-A,HLA-C,TNF | Pertussis:TNF | TNF signaling pathway:ATF6B,TNF | Aminoacyl-tRNA biosynthesis:VARS2 | Type II diabetes mellitus:TNF | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-A,HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-A,HLA-C | ER-Phagosome pathway:HLA-A,HLA-C | Antigen processing-Cross presentation:HLA-A,HLA-C | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-A,HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-A,HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | TNFR2 non-canonical NF-kB pathway:TNF | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-A,HLA-C,TRIM39 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | ABC-family proteins mediated transport:ABCF1 | G2/M Transition:TUBB | Mitotic G2-G2/M phases:TUBB | RNA Polymerase I Promoter Escape:ZNRD1 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Termination:ZNRD1 | RNA Polymerase I Transcription Initiation:ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1,TUBB | Influenza Life Cycle:HSPA1A,HSPA1B | Transcriptional regulation of white adipocyte differentiation:TNF | tRNA Aminoacylation:VARS2 | RNA Polymerase I Promoter Clearance:ZNRD1 | RNA Polymerase I Transcription:ZNRD1 | Kawasaki disease:BAG6,HLA-A,HLA-C,HLA-DRB1,PRRC2A,TNF | lymphadenitis:BAG6,HLA-A,HLA-C,HLA-DRB1,PRRC2A,TNF | lymph node disease:BAG6,HLA-A,HLA-C,HLA-DRB1,PRRC2A,TNF | lymphatic system disease:BAG6,HLA-A,HLA-C,HLA-DRB1,PRRC2A,TNF | leprosy:HLA-A,HLA-DRB1,TNF | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,TNF | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,TNF | autoimmune disease of endocrine system:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | multiple sclerosis:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:ABCF1,HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TNF | autoimmune thyroiditis:HLA-A,HLA-DRB1 | demyelinating disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | thyroid gland disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-A,HLA-DRA | vascular hemostatic disease:HLA-A,HLA-DRA | hypersensitivity reaction type I disease:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | primary bacterial infectious disease:FLOT1,HLA-A,HLA-DRB1,TNF | hepatitis:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,NCR3,TNF | hyperthyroidism:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | vitiligo:DDR1,HLA-A,HLA-C,TNF | spondylitis:HLA-A,HLA-C,TNF | ankylosing spondylitis:HLA-A,HLA-C,TNF | rheumatic fever:HLA-DQA1,HLA-DRB1,TNF | bacterial infectious disease:FLOT1,HLA-A,HLA-DRB1,TNF | aplastic anemia:HLA-A,HLA-DQA1,HLA-DRB1,TNF | urticaria:HLA-A,HLA-DRB1,TNF | spondyloarthropathy:HLA-A,HLA-C,TNF | vasculitis:DDR1,HLA-A,HLA-DRB1,TNF,TRIM39 | hypothyroidism:HLA-DRB1,TNF | Behcet's disease:HLA-A,HLA-DRB1,TNF,TRIM39 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3,TNF | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | arthropathy:HLA-A,HLA-C,TNF | hypotrichosis:HLA-A,HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TNF | malaria:HLA-DRB1,NCR3,PRRC2A,TNF | hair disease:HLA-A,HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1,TNF | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-A,HLA-DRB1 | cystic echinococcosis:HLA-DRB1 | myasthenia gravis:HLA-DQA1,HLA-DRA,TNF | neuromuscular junction disease:HLA-DQA1,HLA-DRA,TNF | brucellosis:TNF | duodenal ulcer:HSPA1A,TNF | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-A,HLA-C,HLA-DQA1,HLA-DRB1,TNF | upper respiratory tract disease:HLA-A,HLA-C,HSPA1A,TNF | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A,TNF | urinary system disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | multiple myeloma:BAG6,HLA-A,IER3,NCR3,TNF | myeloma:BAG6,HLA-A,IER3,NCR3,TNF | reproductive system disease:HLA-DRB1,HSPA1A,MSH5,TNF | bone marrow cancer:BAG6,HLA-A,IER3,NCR3,TNF | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L,TNF | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | complex regional pain syndrome:TNF | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | alopecia:HLA-A,HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1,TNF | type 1 diabetes mellitus:HLA-DQA1,TNF | blood coagulation disease:HLA-A,HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-A,HLA-C,TNF | hemorrhagic disease:HLA-A,HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA,TNF | thyroiditis:HLA-A,HLA-DRB1 | nasal cavity disease:HLA-A,HLA-C,TNF | nose disease:HLA-A,HLA-C,TNF | rhinitis:HLA-A,HLA-C,TNF | collagen disease:AIF1,HLA-DRB1,TNF | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:ABCF1,HLA-DRB1,HSPA1B,TNF | nephritis:AIF1,HLA-DQA1,HLA-DRB1,TNF | periodontitis:HLA-A,TNF | celiac disease:HLA-DQA1,HLA-DRB1,TNF | peptic ulcer disease:HSPA1A,TNF | hematopoietic system disease:HLA-A,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | gestational diabetes:TNF | esophageal varix:TNF | echinococcosis:HLA-DRB1 | anemia:HLA-A,HLA-DQA1,HLA-DRB1,TNF | rheumatic disease:AIF1,HLA-DRB1,TNF | systemic scleroderma:AIF1,HLA-DRB1,TNF | scleroderma:AIF1,HLA-DRB1,TNF | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5,TNF | male infertility:HLA-DRB1,MSH5,TNF | silicosis:HLA-DRB1,TNF | integumentary system disease:HLA-A,HLA-DQA1,HLA-DRB1,TNF | polycystic ovary syndrome:TNF | sickle cell anemia:HLA-DRB1,TNF | periodontal disease:HLA-A,TNF | parasitic helminthiasis infectious disease:HLA-DRB1,TNF | alpha 1-antitrypsin deficiency:TNF | Human immunodeficiency virus infectious disease:HLA-A,HLA-C,HLA-DRB1,TNF | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B,TNF | interstitial lung disease:DDR1,HLA-DRB1,TNF | bronchial disease:HSPA1A,HSPA1B,TNF | acute pancreatitis:HSPA1B | acne:TNF | sebaceous gland disease:TNF | tuberculosis:HLA-A,HLA-DRB1,TNF | Vogt-Koyanagi-Harada disease:HLA-DRB1 | autonomic nervous system disease:TNF | dengue hemorrhagic fever:TNF | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1,TNF | aortic valve disease:TNF | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1,TNF | tooth disease:HLA-A,TNF | dengue disease:TNF | autoimmune disease of peripheral nervous system:HLA-DRB1,TNF | Guillain-Barre syndrome:HLA-DRB1,TNF | pancreas disease:ABCF1,HLA-DRB1,HSPA1B,TNF | open-angle glaucoma:HLA-DRB1,TNF | varicose veins:TNF | influenza:HLA-A,HLA-DRB1,TNF | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-A,HLA-DQA1,HLA-DRB1,TNF | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,TNF | ovarian disease:MSH5 | neutropenia:TNF | agranulocytosis:TNF | gastritis:HLA-DRB1,TNF | dermatomyositis:HLA-DRB1,TNF | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5,TNF | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA,TNF | plasma protein metabolism disease:TNF | Duchenne muscular dystrophy:HLA-A | mouth disease:HLA-A,TNF | osteoporosis:TNF | Sjogren's syndrome:TNF | bone resorption disease:TNF | migraine:HLA-DRB1,TNF | infertility:MSH5,TNF | peripheral nervous system disease:HLA-DRB1,TNF | age related macular degeneration:TNF | degeneration of macula and posterior pole:TNF | hemochromatosis:HLA-A | autoimmune disease of urogenital tract:HLA-DRB1,TNF | primary biliary cirrhosis:HLA-DRB1,TNF | cell type benign neoplasm:DDR1,TNF | macular degeneration:TNF | stomach disease:HLA-DRB1,TNF | cholangitis:HLA-C,HLA-DRB1 | pulmonary hypertension:HLA-A,TNF | Crohn's disease:HSPA1B | osteosarcoma:BAG6,HLA-A,TNF | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,TNF | spinal cord disease:HLA-C,HLA-DRB1 | heart valve disease:TNF | gallbladder carcinoma:TNF | pulmonary edema:HSPA1A | aortic valve stenosis:TNF | gallbladder cancer:TNF | myositis:HLA-DRB1,TNF | lipodystrophy:TNF | leukopenia:TNF | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B | myopathy:HLA-A,HLA-DRB1,TNF | muscle tissue disease:HLA-A,HLA-DRB1,TNF | bone cancer:BAG6,HLA-A,TNF | nasopharynx carcinoma:DDR1,HSPA1B | axonal neuropathy:TNF | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | cardiomyopathy:TNF | muscular disease:HLA-A,HLA-DRB1,TNF | endocrine organ benign neoplasm:DDR1 | metal metabolism disorder:HLA-A | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1,TNF | renal cell carcinoma:HLA-A,HLA-DRB1 | muscular dystrophy:HLA-A,TNF | glaucoma:HLA-DRB1,TNF | esophageal carcinoma:HLA-A,HLA-DRB1 | skin disease:HLA-A,HLA-DRB1,TNF | retinal disease:HLA-DRB1,TNF | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | vein disease:TNF | connective tissue cancer:BAG6,HLA-A,TNF | adenoma:DDR1 | primary open angle glaucoma:TNF | severe combined immunodeficiency:HLA-DRB1,TNF | coronary artery disease:TNF | retinal degeneration:HLA-DRB1,TNF | integumentary system cancer:CCHCR1 | skin cancer:CCHCR1 | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1,TNF | combined T cell and B cell immunodeficiency:HLA-DRB1,TNF | antigen processing and presentation of exogenous peptide antigen:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous antigen:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | interferon-gamma-mediated signaling pathway:HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | cellular response to interferon-gamma:AIF1,HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:AIF1,HLA-A,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | positive regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | positive regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-A,HLA-C | regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-A,HLA-C | positive regulation of cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | positive regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | antigen processing and presentation of peptide antigen via MHC class I:HLA-A,HLA-C | positive regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1 | lymphocyte mediated immunity:NCR3,TNF,TUBB | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,TNF | adaptive immune response:NCR3,TNF | humoral immune response mediated by circulating immunoglobulin:TNF | natural killer cell mediated cytotoxicity:NCR3,TUBB | natural killer cell mediated immunity:NCR3,TUBB | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-A,HLA-C | type I interferon signaling pathway:HLA-A,HLA-C | cellular response to type I interferon:HLA-A,HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,TNF | leukocyte mediated cytotoxicity:NCR3,TUBB | regulation of humoral immune response:TNF | positive regulation of defense response:FLOT1,HSPA1A,HSPA1B,NCR3,TNF | positive regulation of cytokine production:FLOT1,HSPA1A,HSPA1B,TNF | T cell mediated immunity:NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:NCR3,TNF | positive regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | positive regulation of T cell proliferation:AIF1 | regulation of lymphocyte mediated immunity:NCR3,TNF | NIK/NF-kappaB signaling:TNF | regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,TNF | regulation of T cell proliferation:AIF1 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B,TRIM39 | cell killing:NCR3,TUBB | positive regulation of lymphocyte mediated immunity:NCR3,TNF | regulation of lymphocyte proliferation:AIF1,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,TNF | regulation of mononuclear cell proliferation:AIF1,LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | regulation of natural killer cell mediated cytotoxicity:NCR3 | chronic inflammatory response:TNF | positive regulation of adaptive immune response:NCR3,TNF | regulation of natural killer cell mediated immunity:NCR3 | interferon-gamma production:TNF | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,TRIM39 | immunoglobulin mediated immune response:TNF | regulation of leukocyte proliferation:AIF1,LST1 | B cell mediated immunity:TNF | mRNA catabolic process:HSPA1A,HSPA1B | response to tumor necrosis factor:HSPA1A,HSPA1B,TNF | regulation of chronic inflammatory response:TNF | response to heat:HSPA1A,HSPA1B,HSPA1L | regulation of humoral immune response mediated by circulating immunoglobulin:TNF | positive regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | positive regulation of nitric oxide metabolic process:AIF1,DDAH2,TNF | regulation of leukocyte mediated immunity:NCR3,TNF | activation of innate immune response:FLOT1,HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3,TNF | T cell proliferation:AIF1 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | positive regulation of inflammatory response to antigenic stimulus:TNF | positive regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | microtubule nucleation:HSPA1A,HSPA1B | positive regulation of phagocytosis:TNF | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | positive regulation of lymphocyte proliferation:AIF1 | positive regulation of mononuclear cell proliferation:AIF1 | positive regulation of heterotypic cell-cell adhesion:FLOT1,TNF | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | negative regulation of immune effector process:TNF | ER-associated misfolded protein catabolic process:BAG6 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B,TRIM39 | RNA catabolic process:HSPA1A,HSPA1B | positive regulation of leukocyte proliferation:AIF1 | positive regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | immune response to tumor cell:NCR3 | negative regulation of growth of symbiont in host:TNF | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of humoral immune response:TNF | regulation of growth of symbiont in host:TNF | negative regulation of growth of symbiont involved in interaction with host:TNF | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,TNF | DNA-templated transcription, elongation:ZNRD1 | humoral immune response:TNF | regulation of acute inflammatory response:TNF | regulation of inclusion body assembly:HSPA1A,HSPA1B | modulation of growth of symbiont involved in interaction with host:TNF | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,TNF | lymphocyte proliferation:AIF1,LST1 | negative regulation of phosphoprotein phosphatase activity:TNF | mononuclear cell proliferation:AIF1,LST1 | regulation of immunoglobulin secretion:TNF | regulation of translational fidelity:VARS2 | positive regulation of translational initiation:TNF | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,TRIM39 | growth of symbiont in host:TNF | regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | RNA phosphodiester bond hydrolysis:HSPA1A,NHP2,RPP21,ZNRD1 | steroid metabolic process:TNF | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | growth involved in symbiotic interaction:TNF | growth of symbiont involved in interaction with host:TNF | regulation of adaptive immune response:NCR3,TNF | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AIF1,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,TNF | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of interferon-gamma production:TNF | positive regulation of translation:TNF | nitric oxide biosynthetic process:AIF1,DDAH2,TNF | interleukin-8 production:HSPA1A,HSPA1B,TNF | regulation of heterotypic cell-cell adhesion:FLOT1,TNF | immunoglobulin secretion:TNF | positive regulation of protein complex assembly:HSPA1A,HSPA1B,TNF | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | nucleocytoplasmic transport:CCHCR1,TNF | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | podosome assembly:TNF | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:TRIM39 | nitric oxide metabolic process:AIF1,DDAH2,TNF | nuclear transport:CCHCR1,TNF | cellular response to misfolded protein:BAG6 | regulation of inflammatory response to antigenic stimulus:TNF | positive regulation of vascular smooth muscle cell proliferation:TNF | regulation of phagocytosis:TNF | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:AIF1,DDAH2,TNF | positive regulation of mononuclear cell migration:AIF1,TNF | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1,TNF | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of organelle assembly:HSPA1A,HSPA1B,TNF | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:TRIM39 | regulation of endocytosis:FLOT1,TNF | protein quality control for misfolded or incompletely synthesized proteins:BAG6 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1,TNF | negative regulation of multi-organism process:TNF | negative regulation of protein dephosphorylation:TNF | defense response to Gram-positive bacterium:TNF | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A | positive regulation of immune effector process:NCR3,TNF | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:ZNRD1 | termination of RNA polymerase I transcription:ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:NCR3 | positive regulation of NIK/NF-kappaB signaling:TNF | spindle assembly:HSPA1A,HSPA1B,TUBB | ganglioside metabolic process:NEU1 | positive regulation of cellular amide metabolic process:TNF | nucleic acid phosphodiester bond hydrolysis:HSPA1A,NHP2,RPP21,ZNRD1 | transcription initiation from RNA polymerase I promoter:ZNRD1 | positive regulation of B cell mediated immunity:TNF | positive regulation of immunoglobulin mediated immune response:TNF | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | negative regulation of immune system process:LST1,TNF | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | positive regulation of NF-kappaB import into nucleus:TNF | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | macroautophagy:ATP6V1G2 | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:ZNRD1 | regulation of vascular smooth muscle cell proliferation:TNF | vascular smooth muscle cell proliferation:TNF | regulation of macroautophagy:ATP6V1G2 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | regulation of interferon-gamma production:TNF | protein export from nucleus:CCHCR1 | viral life cycle:HSPA1A,HSPA1B,TNF | regulation of osteoblast differentiation:TNF | negative regulation of osteoblast differentiation:TNF | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | vitamin D biosynthetic process:TNF | protein localization to nucleus:TNF | positive regulation of protein polymerization:HSPA1A,HSPA1B | steroid biosynthetic process:TNF | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A,TRIM39 | regulation of mononuclear cell migration:AIF1,TNF | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | inflammatory response to antigenic stimulus:TNF | positive regulation of catabolic process:BAG6,HSPA1A,TNF | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | microglial cell activation:AIF1 | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6,TRIM39 | response to salt stress:TNF | positive regulation of cell killing:NCR3 | endothelial cell development:TNF | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | phagocytosis:AIF1,TNF | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of heat generation:TNF | regulation of autophagy:ATP6V1G2 | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:TNF | synapsis:BAG6,MSH5 | macrophage activation:AIF1 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:BAG6,HSPA1A,TNF | positive regulation of cellular catabolic process:BAG6,HSPA1A,TNF | acute inflammatory response:TNF | regulation of B cell mediated immunity:TNF | regulation of immunoglobulin mediated immune response:TNF | tRNA aminoacylation for protein translation:VARS2 | regulation of transcription factor import into nucleus:TNF | negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:TRIM39 | extracellular matrix organization:DDR1,FLOT1,TNF | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1,TNF | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1,TNF | heterotypic cell-cell adhesion:FLOT1,TNF | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B,TNF | negative regulation of immune response:TNF | transcription factor import into nucleus:TNF | regulation of lipid catabolic process:TNF | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | regulation of mRNA metabolic process:HSPA1A | regulation of NIK/NF-kappaB signaling:TNF | smooth muscle cell proliferation:AIF1,TNF | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | cellular response to amino acid stimulus:TNF | nuclear export:CCHCR1 | cleavage involved in rRNA processing:NHP2 | syncytium formation:FLOT1 | lipopolysaccharide-mediated signaling pathway:TNF | fat-soluble vitamin biosynthetic process:TNF | regulation of symbiosis, encompassing mutualism through parasitism:TNF | regulation of monooxygenase activity:DDAH2,TNF | positive regulation of cellular component biogenesis:FLOT1,HSPA1A,HSPA1B,TNF | regulation of cellular protein catabolic process:BAG6,HSPA1A,TRIM39 | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF | defense response to bacterium:TNF | glial cell activation:AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1,TUBB | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1,TNF | immunoglobulin production:TNF | reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of immunoglobulin production:TNF | viral genome replication:TNF | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | cellular response to ammonium ion:AIF1 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | positive regulation of cytokine biosynthetic process:TNF | negative regulation of cellular protein catabolic process:BAG6,TRIM39 | negative regulation of catabolic process:BAG6,TNF,TRIM39 | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,TRIM39 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF | gland morphogenesis:DDR1,TNF | endothelium development:TNF | regulation of phosphoprotein phosphatase activity:TNF | regulation of protein complex assembly:HSPA1A,HSPA1B,TNF | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | spindle organization:HSPA1A,HSPA1B,TUBB | superoxide metabolic process:TNF | negative regulation of phosphatase activity:TNF | negative regulation of ossification:TNF | ruffle assembly:AIF1 | regulation of protein catabolic process:BAG6,HSPA1A,TNF | negative regulation of mitotic cell cycle:TNF | DNA-templated transcription, initiation:ZNRD1 | negative regulation of hydrolase activity:TNF | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | negative regulation of chemotaxis:AIF1 | regulation of cell cycle phase transition:AIF1,TUBB | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B,TNF | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | autophagy:ATP6V1G2 | process utilizing autophagic mechanism:ATP6V1G2 | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | G2/M transition of mitotic cell cycle:TUBB | protein complex localization:TNF | receptor internalization:FLOT1 | regulation of translational initiation:TNF | regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | negative regulation of proteolysis:BAG6,TRIM39 | ubiquitin-dependent ERAD pathway:BAG6 | regulation of muscle tissue development:FLOT1 | regulation of multi-organism process:TNF | RNA localization to Cajal body:NHP2 | telomerase RNA localization to Cajal body:NHP2 | telomerase RNA localization:NHP2 | RNA localization to nucleus:NHP2 | heat generation:TNF | regulation of response to cytokine stimulus:HSPA1A,HSPA1B,TNF | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of leukocyte chemotaxis:AIF1 | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | translational initiation:TNF | regulation of viral process:TNF | smooth muscle cell migration:AIF1,DDR1 | negative regulation of viral life cycle:TNF | negative regulation of leukocyte activation:LST1 | cell cycle G2/M phase transition:TUBB | regulation of G2/M transition of mitotic cell cycle:TUBB | 0.134646 | 0.0783961 | 1.06531575086694 | 0.591132 | 0.0853262 | 11.2452527248307 | 0.578224 | 0.136149 | 4.60982115275367 | 0.0380274 | 0.0643902 | 0.255810320823165 | 0.00470828 | 0.0967061 | 0.0171939189662252 | 0.262571 | 0.127039 | 1.41030837251555 | 0.26629 | 0.166393 | 0.95868628465414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
rs36139342:119204625:A:AC | novel3 | 6 | 119204625 | 6q22.31 | AC | A | 0.99 | 144 | DHEAS ALL | 7659 | 11.1240421208632 | 0.192311398354877 | 0.0122193 | MCM9 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); ASF1A (11 kb); FAM184A (76 kb); CEP85L (170 kb) | NA | - | ASF1A | BRD7P3 | CEP85L | FAM184A | MCM9 | MCMDC1 | PLN | RP11-210H10 A.1 | RP11-351A11.1 | BORA | HIST1H2BJ | Formation of Senescence-Associated Heterochromatin Foci (SAHF):ASF1A | DNA replication initiation:MCM9 | -0.0136144 | 0.0219172 | 0.27201004122303 | 0.0137521 | 0.0199672 | 0.30882299128571 | -0.0203303 | 0.0422 | 0.200675306031217 | -0.0139282 | 0.0241133 | 0.24903826252731 | 0.0236426 | 0.026315 | 0.432845365254941 | -0.0703964 | 0.0480011 | 0.844846222234852 | -0.0128406 | 0.0179897 | 0.322897888590765 | 0.00863642 | 0.0207348 | 0.169348469011978 | -0.0434887 | 0.0336804 | 0.705425764785102 | -0.0871928 | 0.0127335 | 11.1240421208632 | -0.0882746 | 0.0160836 | 7.39215053776423 | -0.0861025 | 0.0201414 | 4.71844170391325 | -0.0148015 | 0.0126471 | 0.616432360189955 | 0.0344536 | 0.0134652 | 1.97856673732835 | -0.0737033 | 0.0210931 | 3.32284856538477 | 0.0165791 | 0.012273 | 0.752662692098834 | 0.0289053 | 0.0151596 | 1.24752208209511 | -0.00663392 | 0.0194488 | 0.134877658586354 | -0.004363 | 0.00733817 | 0.257953148789202 | -0.00757347 | 0.00962503 | 0.365151068349575 | -3.59975E-4 | 0.0112772 | 0.0112025587691333 | -0.0241021 | 0.036145 | 0.296737862494172 | -0.0605412 | 0.0456336 | 0.733187593476151 | 0.0350676 | 0.0591096 | 0.257116258448133 | ||
rs35695070:7343539:GC:G | known [3, 5, 7] | 17 | 7343539 | 17p13.1 | G | GC | 0.894 | 17 | TESTO MEN | 4291 | 10.8095394335565 | 0.507888021440224 | 0.233061 | FGF11 (0 kb); TMEM102 (2.5 kb); CHRNB1 (4.8 kb); C17orf74 (13 kb); SPEM1 (19 kb); ZBTB4 (19 kb); NLGN2 (20 kb); TMEM256 (36 kb); TMEM256-PLSCR3 (36 kb); SLC35G6 (41 kb); POLR2A (44 kb) | NA | - | ACAP1 | ARHGEF15 | C17orf61 | C17orf61-PLSCR3 | C17orf74 | C17orf81 | CD68 | CHRNB1 | CTC1 | EIF4A1 | EIF5A | FGF11 | LSMD1 | MPDU1 | NLGN2 | PFAS | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SNORA48 | SNORA67 | SOX15 | TMEM102 | TMEM256-PLSCR3 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | ZBTB4 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Cell adhesion molecules (CAMs):NLGN2 | Epstein-Barr virus infection:POLR2A | Endocytosis:ACAP1 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | RNA transport:EIF4A1 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Neurexins and neuroligins:NLGN2 | Transcription of the HIV genome:POLR2A | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Protein-protein interactions at synapses:NLGN2 | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of cell adhesion:TMEM102 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1,NLGN2 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of DNA biosynthetic process:CTC1 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | DNA biosynthetic process:CTC1 | replicative senescence:CTC1 | locomotory exploration behavior:NLGN2 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | telomere maintenance via telomerase:CTC1 | RNA-dependent DNA biosynthetic process:CTC1 | positive regulation of cell cycle process:SOX15 | telomere maintenance via telomere lengthening:CTC1 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | hematopoietic stem cell proliferation:CTC1 | positive regulation of excitatory postsynaptic potential:NLGN2 | B cell mediated immunity:TNFSF13 | exploration behavior:NLGN2 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | regulation of neurotransmitter receptor activity:NLGN2 | regulation of cell cycle G2/M phase transition:CTC1 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1,NLGN2 | nucleocytoplasmic transport:EIF5A | protein localization to synapse:NLGN2 | nuclear transport:EIF5A | positive regulation of DNA metabolic process:CTC1,TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1,NLGN2 | spleen development:CTC1 | negative regulation of DNA biosynthetic process:CTC1 | modulation of excitatory postsynaptic potential:NLGN2 | regulation of glutamate receptor signaling pathway:NLGN2 | positive regulation of reactive oxygen species metabolic process:EIF5A | stem cell proliferation:CTC1 | positive regulation of cell cycle:SOX15 | peptidyl-tyrosine phosphorylation:TMEM102 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TMEM102 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:CTC1,TNFSF13 | negative regulation of translation:POLR2A | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TMEM102 | cell cycle G2/M phase transition:CTC1 | thymus development:CTC1 | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1,NLGN2 | synapse organization:CHRNB1,NLGN2 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:POLR2A | neuromuscular process controlling balance:NLGN2 | regulation of mitotic cell cycle phase transition:CTC1 | regulation of adaptive immune response:TNFSF13 | regulation of telomere maintenance via telomerase:CTC1 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:NLGN2 | mitochondrial outer membrane permeabilization:TMEM102 | postsynaptic membrane assembly:NLGN2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | telomere maintenance:CTC1 | regulation of cell cycle phase transition:CTC1 | telomere capping:CTC1 | aging:CTC1,EIF5A | membrane assembly:NLGN2 | protein export from nucleus:EIF5A | presynaptic membrane organization:NLGN2 | regulation of telomere maintenance via telomere lengthening:CTC1 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | telomere organization:CTC1 | mitochondrial outer membrane permeabilization involved in programmed cell death:TMEM102 | flagellated sperm motility:SPEM1 | sperm motility:SPEM1 | positive regulation of mitochondrial membrane permeability:TMEM102 | regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | positive regulation of membrane permeability:TMEM102 | mRNA catabolic process:EIF4A1,TNFSF13 | membrane biogenesis:NLGN2 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | locomotory behavior:NLGN2 | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of G2/M transition of mitotic cell cycle:CTC1 | nuclear export:EIF5A | postsynapse assembly:NLGN2 | regulation of telomere maintenance:CTC1 | glutamate receptor signaling pathway:NLGN2 | regulation of mitochondrial membrane permeability:TMEM102 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | mitochondrial membrane organization:TMEM102 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | neuron cell-cell adhesion:NLGN2 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of membrane permeability:TMEM102 | regulation of synapse assembly:NLGN2 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of fibroblast proliferation:CTC1 | regulation of ion transmembrane transporter activity:NLGN2 | fibroblast proliferation:CTC1 | regulation of apoptotic signaling pathway:TMEM102,TNFSF12 | regulation of transmembrane transporter activity:NLGN2 | RNA catabolic process:EIF4A1,TNFSF13 | neuromuscular process:NLGN2 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:CHRNB1,NLGN2 | presynapse assembly:NLGN2 | cell aging:CTC1 | transcription elongation from RNA polymerase II promoter:POLR2A | synaptic vesicle recycling:NLGN2 | regulation of striated muscle tissue development:SOX15 | regulation of transporter activity:NLGN2 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | G2/M transition of mitotic cell cycle:CTC1 | DNA-templated transcription, termination:POLR2A | regulation of leukocyte chemotaxis:TMEM102 | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | 6.65759E-4 | 0.01765 | 0.013266324134237 | -0.0159478 | 0.0157748 | 0.505547626621375 | 0.038949 | 0.0193994 | 1.34871810838986 | 0.0361014 | 0.0207771 | 1.08346078017817 | 0.0385849 | 0.040036 | 0.474311358920536 | 8.03698E-4 | 0.0144876 | 0.0196488773360241 | 0.00511865 | 0.0163851 | 0.122175588471182 | -0.0120564 | 0.0280968 | 0.175236540547911 | -0.0111995 | 0.0104162 | 0.549313737186538 | -0.00147011 | 0.0131442 | 0.0405068900710457 | -0.0199096 | 0.0164999 | 0.642890715725955 | 0.0408821 | 0.0102775 | 4.15770536341877 | 0.0734806 | 0.0108972 | 10.8095394335565 | -0.00266917 | 0.0173836 | 0.0565213128828303 | 0.0237466 | 0.0100144 | 1.75132800829537 | 0.0383878 | 0.0123827 | 2.71344922628234 | 0.00764896 | 0.0158951 | 0.200409286266302 | 0.003398 | 0.00598208 | 0.24411371567573 | 0.00409667 | 0.00780552 | 0.222071020495414 | 0.0032477 | 0.00924791 | 0.139391317650456 | -0.0386952 | 0.0290385 | 0.737947789963467 | -0.0623227 | 0.0360024 | 1.07739960776694 | 0.0108996 | 0.0491201 | 0.0838298832400691 | ||||
rs115310850:31823256:C:A | 6 | 31823256 | 6p21.33 | A | C | 0.984 | 0 | OHP17 ALL | 2070 | 10.7875274001115 | 0.0104466183574879 | NEU1 (2.2 kb, near gene/Downstream gene/MODIFIER); SLC44A4 (7.7 kb); C6orf48 (16 kb); SNORD52 (18 kb); SNORD48 (20 kb); EHMT2 (24 kb); HSPA1B (25 kb); EHMT2-AS1 (28 kb); HSPA1A (38 kb); HSPA1L (40 kb); C2 (42 kb); ZBTB12 (44 kb); LSM2 (48 kb) | 0.569 Blood protein levels // 0.402 Economic and political preferences (environmentalism) // 0.402 Hepatitis B vaccine response // 0.368 Blood metabolite levels | - | ABCF1 | ABHD16A | AGER | AIF1 | APOM | ATF6B | ATP6V1G2 | BAG6 | BAT4 | BRD2 | BTNL2 | C4A | C4B | C4B 2 | C6orf10 | C6orf25 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | CUTA | DDAH2 | DDR1 | DDX39B | DOM3Z | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-E | HLA-H | HLA-T | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6E | MCCD1 | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PBX2 | PHF1 | PPP1R10 | PPP1R11 | PPT2 | PRRC2A | PSMB8 | PSMB9 | PSORS1C2 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TNF | TRIM10 | TRIM39 | TUBB | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | ZBTB12 | ZNRD1 | ABP1 | CCDC69 | EXOC1 | HLA-E | HLA-F | HLA-V | IER3 | LIMS1 | MDC1 | NHP2 | PARP2 | PPP1R11 | TMEM154 | TRAV12-1 | TUBB | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Staphylococcus aureus infection:C2,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Phagosome:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:C2,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Influenza A:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:ATF6B,HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:ATF6B,GTF2H4,HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L,LSM2 | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L,RNF5 | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Complement and coagulation cascades:C2 | Human papillomavirus infection:HLA-C | Pertussis:C2 | TNF signaling pathway:ATF6B | Aminoacyl-tRNA biosynthesis:VARS2 | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,TAP2 | Antigen processing-Cross presentation:HLA-C,TAP2 | Initial triggering of complement:C2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:GTF2H4,HSPA1A,HSPA1B | Regulation of Complement cascade:C2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:GTF2H4 | Complement cascade:C2 | HIV Infection:GTF2H4 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,TAP2 | HIV Transcription Elongation:GTF2H4 | Formation of HIV-1 elongation complex containing HIV-1 Tat:GTF2H4 | Tat-mediated elongation of the HIV-1 transcript:GTF2H4 | Formation of HIV elongation complex in the absence of HIV Tat:GTF2H4 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:RNF5 | Formation of RNA Pol II elongation complex :GTF2H4 | RNA Polymerase II Transcription Elongation:GTF2H4 | Formation of the Early Elongation Complex:GTF2H4 | Formation of the HIV-1 Early Elongation Complex:GTF2H4 | ABC-family proteins mediated transport:ABCF1,RNF5 | HIV Life Cycle:GTF2H4 | RNA Polymerase I Promoter Escape:GTF2H4,ZNRD1 | Transcription of the HIV genome:GTF2H4 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:EHMT2,GTF2H4 | RNA Polymerase I Transcription Termination:GTF2H4,ZNRD1 | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Initiation:EHMT2,GTF2H4,ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1 | ABC transporter disorders:RNF5 | Influenza Life Cycle:HSPA1A,HSPA1B | RNA Polymerase II Pre-transcription Events:GTF2H4 | Dual Incision in GG-NER:GTF2H4 | tRNA Aminoacylation:VARS2 | Formation of Incision Complex in GG-NER:GTF2H4 | Late Phase of HIV Life Cycle:GTF2H4 | Synthesis of PC:SLC44A4 | Deadenylation-dependent mRNA decay:LSM2 | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection:GTF2H4 | RNA Pol II CTD phosphorylation and interaction with CE:GTF2H4 | RNA Polymerase I Promoter Clearance:EHMT2,GTF2H4,ZNRD1 | RNA Polymerase I Transcription:EHMT2,GTF2H4,ZNRD1 | mRNA Capping:GTF2H4 | Kawasaki disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphadenitis:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymph node disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphatic system disease:BAG6,HLA-C,HLA-DRB1,PRRC2A | leprosy:HLA-DRB1 | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:ABCF1,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1 | primary bacterial infectious disease:FLOT1,HLA-DRB1,TAP2 | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | vitiligo:DDR1,HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:FLOT1,HLA-DRB1,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:DDR1,HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TAP2 | malaria:HLA-DRB1,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:TAP2 | duodenal ulcer:HSPA1A | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A | urinary system disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | multiple myeloma:BAG6,IER3,NCR3 | myeloma:BAG6,IER3,NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:BAG6,IER3,NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:ABCF1,HLA-DRB1,HSPA1B | nephritis:HLA-DQA1,HLA-DRB1 | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:HLA-DRB1,TAP2 | systemic scleroderma:HLA-DRB1,TAP2 | scleroderma:HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:DDR1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:ABCF1,HLA-DRB1,HSPA1B | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | age related macular degeneration:C2 | degeneration of macula and posterior pole:C2 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | cell type benign neoplasm:DDR1 | macular degeneration:C2 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:HSPA1B | osteosarcoma:BAG6 | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | pulmonary edema:HSPA1A | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B | myopathy:HLA-DRB1 | muscle tissue disease:HLA-DRB1 | bone cancer:BAG6 | nasopharynx carcinoma:DDR1,HSPA1B | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:HLA-DRB1 | endocrine organ benign neoplasm:DDR1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | retinal disease:C2,HLA-DRB1,TAP2 | skin disease:HLA-DRB1 | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1 | connective tissue cancer:BAG6 | adenoma:DDR1 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:C2,HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1 | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | cellular response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of cell-cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | lymphocyte mediated immunity:C2,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:C2,NCR3 | adaptive immune response:C2,NCR3,TAP2 | humoral immune response mediated by circulating immunoglobulin:C2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | leukocyte mediated cytotoxicity:NCR3 | regulation of humoral immune response:C2 | positive regulation of defense response:FLOT1,HSPA1A,HSPA1B,NCR3 | positive regulation of cytokine production:FLOT1,HSPA1A,HSPA1B | T cell mediated immunity:NCR3 | regulation of apoptotic cell clearance:C2 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:C2,NCR3 | positive regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | regulation of lymphocyte mediated immunity:NCR3 | regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:NCR3 | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | immunoglobulin mediated immune response:C2 | regulation of leukocyte proliferation:LST1 | B cell mediated immunity:C2 | mRNA catabolic process:HSPA1A,HSPA1B,LSM2 | response to tumor necrosis factor:HSPA1A,HSPA1B | regulation of complement activation:C2 | response to heat:HSPA1A,HSPA1B,HSPA1L | regulation of protein activation cascade:C2 | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:NCR3 | activation of innate immune response:FLOT1,HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | positive regulation of phagocytosis:C2 | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of heterotypic cell-cell adhesion:FLOT1 | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | ER-associated misfolded protein catabolic process:BAG6,RNF5 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B,LSM2 | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L,RNF5 | positive regulation of T cell mediated cytotoxicity:NCR3 | complement activation:C2 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | DNA-templated transcription, elongation:GTF2H4,ZNRD1 | humoral immune response:C2 | regulation of acute inflammatory response:C2 | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | lymphocyte proliferation:LST1 | mononuclear cell proliferation:LST1 | regulation of translational fidelity:VARS2 | complement activation, classical pathway:C2 | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | apoptotic cell clearance:C2 | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B,RNF5 | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | regulation of heterotypic cell-cell adhesion:FLOT1 | positive regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:DDAH2 | cellular response to misfolded protein:BAG6,RNF5 | regulation of phagocytosis:C2 | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:DDAH2 | nuclear-transcribed mRNA catabolic process, exonucleolytic:LSM2 | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,RNF5 | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6,RNF5 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B,RNF5 | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:DDAH2 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:RNF5 | regulation of endocytosis:C2,FLOT1 | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:BAG6,RNF5 | protein activation cascade:C2 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:C2,FLOT1 | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A,RNF5 | positive regulation of immune effector process:NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:GTF2H4,ZNRD1 | termination of RNA polymerase I transcription:GTF2H4,ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | positive regulation of T cell mediated immunity:NCR3 | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | nucleic acid phosphodiester bond hydrolysis:GTF2H4,HSPA1A,RPP21,ZNRD1 | transcription initiation from RNA polymerase I promoter:GTF2H4,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:LSM2 | nuclear-transcribed mRNA catabolic process:LSM2 | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:HLA-DOB,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | macroautophagy:RNF5 | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:GTF2H4,ZNRD1 | regulation of macroautophagy:RNF5 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | regulation of protein processing:C2 | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of protein maturation:C2 | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:BAG6,HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | phagocytosis:C2 | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of autophagy:RNF5 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:C2 | synapsis:BAG6,MSH5 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:BAG6,HSPA1A | positive regulation of cellular catabolic process:BAG6,HSPA1A | acute inflammatory response:C2 | tRNA aminoacylation for protein translation:VARS2 | extracellular matrix organization:DDR1,FLOT1 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1 | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | transcription elongation from RNA polymerase II promoter:GTF2H4 | regulation of mRNA metabolic process:HSPA1A | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | syncytium formation:FLOT1 | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1,GTF2H4,HSPA1A,HSPA1B | regulation of cellular protein catabolic process:BAG6,HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1 | reactive oxygen species metabolic process:DDAH2 | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:RNF5 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6,RNF5 | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,RNF5 | negative regulation of autophagy:RNF5 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:GTF2H4,ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | gland morphogenesis:DDR1 | regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | regulation of protein catabolic process:BAG6,HSPA1A | DNA-templated transcription, initiation:GTF2H4,ZNRD1 | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | regulation of G0 to G1 transition:EHMT2 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | transcription initiation from RNA polymerase II promoter:GTF2H4 | mammary gland duct morphogenesis:DDR1 | phosphatidylcholine biosynthetic process:SLC44A4 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | autophagy:RNF5 | process utilizing autophagic mechanism:RNF5 | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | regulation of autophagosome assembly:RNF5 | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:DDAH2 | G0 to G1 transition:EHMT2 | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6,RNF5 | regulation of muscle tissue development:FLOT1 | negative regulation of G0 to G1 transition:EHMT2 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | 7-methylguanosine mRNA capping:GTF2H4 | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | 7-methylguanosine RNA capping:GTF2H4 | RNA capping:GTF2H4 | smooth muscle cell migration:DDR1 | negative regulation of leukocyte activation:LST1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:LSM2 | 0.092686 | 0.0836609 | 0.571793909744608 | 0.616842 | 0.0910639 | 10.7875274001115 | 0.643126 | 0.156804 | 4.33892406344598 | 0.0812383 | 0.0686683 | 0.625390943753266 | 0.0719273 | 0.111251 | 0.285547850176964 | 0.231453 | 0.137069 | 1.03878684749192 | 0.0836754 | 0.196212 | 0.173982242708816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
rs114811870:31324938:C:T | 6 | 31324938 | 6p21.33 | T | C | 0.991 | 3 | OHP17 ALL | 2070 | 10.6697323690065 | 0.0176869565217391 | HLA-B (0 kb, 5'utr/5 prime UTR/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); XXbac-BPG248L24.12 (0 kb, nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); DHFRP2 (9.2 kb); RNU6-283P (13 kb); FGFR3P1 (20 kb); ZDHHC20P2 (23 kb); HLA-S (25 kb); HCP5 (44 kb); MICA (46 kb) | 0.943 Blood protein levels // 0.414 Plantar warts // 0.414 Response to angiotensin II receptor blocker therapy // 0.357 Tuberculosis | - | ABCF1 | ABHD16A | AGER | AGPAT1 | AIF1 | AL645933.8 | APOM | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf15 | C6orf25 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | CYP21A1P | DDAH2 | DDR1 | DDX39B | DHX16 | DOM3Z | DPCR1 | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG27 | HCP5 | HLA-B | HLA-C | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB5 | HLA-E | HLA-J | HLA-L | HLA-S | HLA-T | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6C | LY6G6E | MDC1 | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | MUC22 | NCR3 | NEU1 | NRM | POU5F1 | PPP1R10 | PPP1R11 | PPP1R18 | PRRC2A | PSMB9 | PSORS1C1 | PSORS1C2 | PSORS1C3 | RANP1 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | TCF19 | TNF | TNXA | TRIM10 | TRIM26 | TRIM39 | TUBB | unnamed | VARS | VARS2 | XXbac-BPG181B23.7 | XXbac-BPG248L24.10 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | ZNRD1 | BTN3A2 | C6orf10 | CARM1 | CD248 | DPM3 | EHBP1L1 | GABBR1 | HCG18 | HLA-A | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-F | HLA-G | HLA-H | HLA-V | IER3 | LAT | NHP2 | NMT1 | OTUB1 | PARP2 | POLR2G | PPP1R11 | TMEM154 | TMEM50B | VKORC1 | XRCC6 | ZNRD1 | Type I diabetes mellitus:HLA-B,HLA-C,HLA-DRA,LTA | Allograft rejection:HLA-B,HLA-C,HLA-DRA | Graft-versus-host disease:HLA-B,HLA-C,HLA-DRA | Antigen processing and presentation:HLA-B,HLA-C,HLA-DRA,HSPA1A,HSPA1B,HSPA1L | Autoimmune thyroid disease:HLA-B,HLA-C,HLA-DRA | Viral myocarditis:HLA-B,HLA-C,HLA-DRA | Staphylococcus aureus infection:HLA-DRA | Asthma:HLA-DRA | Phagosome:HLA-B,HLA-C,HLA-DRA | Herpes simplex infection:HLA-B,HLA-C,HLA-DRA,LTA | Intestinal immune network for IgA production:HLA-DRA | Rheumatoid arthritis:HLA-DRA | Inflammatory bowel disease (IBD):HLA-DRA | Toxoplasmosis:HLA-DRA,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DRA | Cell adhesion molecules (CAMs):HLA-B,HLA-C,HLA-DRA | Leishmaniasis:HLA-DRA | Influenza A:HLA-DRA,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DRA | Epstein-Barr virus infection:HLA-B,HLA-C,HLA-DRA,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-B,HLA-C,HLA-DRA,LTA | Th1 and Th2 cell differentiation:HLA-DRA | Th17 cell differentiation:HLA-DRA | Tuberculosis:HLA-DRA | Natural killer cell mediated cytotoxicity:HLA-B,HLA-C,MICA,NCR3 | Endocytosis:HLA-B,HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:HLA-B,HLA-C | Kaposi sarcoma-associated herpesvirus infection:HLA-B,HLA-C,MICA | Viral carcinogenesis:HLA-B,HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-B,HLA-C | NF-kappa B signaling pathway:LTA | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-B,HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-B,HLA-C | TNF signaling pathway:LTA | Aminoacyl-tRNA biosynthesis:VARS2 | Translocation of ZAP-70 to Immunological synapse:HLA-DRA | Phosphorylation of CD3 and TCR zeta chains:HLA-DRA | Interferon gamma signaling:HLA-B,HLA-C,HLA-DRA | PD-1 signaling:HLA-DRA | Generation of second messenger molecules:HLA-DRA | Downstream TCR signaling:HLA-DRA | Interferon Signaling:HLA-B,HLA-C,HLA-DRA | TCR signaling:HLA-DRA | MHC class II antigen presentation:HLA-DRA | Costimulation by the CD28 family:HLA-DRA | Endosomal/Vacuolar pathway:HLA-C,HLA-B | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,HLA-B | ER-Phagosome pathway:HLA-B,HLA-C | Antigen processing-Cross presentation:HLA-B,HLA-C | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-B,HLA-C,MICA,NCR3 | Interferon alpha/beta signaling:HLA-B,HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | TNFR2 non-canonical NF-kB pathway:LTA | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:LTA | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-B,HLA-C | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | RNA Polymerase I Promoter Escape:ZNRD1 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Termination:ZNRD1 | RNA Polymerase I Transcription Initiation:ZNRD1 | Neutrophil degranulation:HLA-B,HLA-C,HSPA1A,HSPA1B | Influenza Life Cycle:HSPA1A,HSPA1B | tRNA Aminoacylation:VARS2 | RNA Polymerase I Promoter Clearance:ZNRD1 | RNA Polymerase I Transcription:ZNRD1 | Kawasaki disease:BAG6,HLA-B,HLA-C,PRRC2A | lymphadenitis:BAG6,HLA-B,HLA-C,PRRC2A | lymph node disease:BAG6,HLA-B,HLA-C,PRRC2A | lymphatic system disease:BAG6,HLA-B,HLA-C,PRRC2A | leprosy:LTA,MICA | sarcoidosis:DDR1,HLA-B,HSPA1L,LTA | hypersensitivity reaction type IV disease:DDR1,HLA-B,HSPA1L,LTA | autoimmune disease of endocrine system:HLA-B,HLA-C | multiple sclerosis:HLA-C,HLA-DRA,HLA-B | endocrine system disease:HLA-B,HLA-C,HSPA1B,LTA,MICA | autoimmune thyroiditis:HLA-B | demyelinating disease:HLA-C,HLA-DRA,HLA-B | Graves' disease:HLA-B,HLA-C | thyroid gland disease:HLA-B,HLA-C | cavernous hemangioma:HLA-B,HLA-DRA | vascular hemostatic disease:HLA-B,HLA-DRA | hypersensitivity reaction type I disease:HCP5,HLA-B,HLA-C,MICA | primary bacterial infectious disease:FLOT1,HLA-B,LTA,MICA | hepatitis:HLA-B,HLA-C,LTA,MICA,NCR3 | hyperthyroidism:HLA-B,HLA-C | vitiligo:DDR1,HLA-B,HLA-C | spondylitis:HLA-B,HLA-C,MICA | ankylosing spondylitis:HLA-B,HLA-C,MICA | bacterial infectious disease:FLOT1,HLA-B,LTA,MICA | aplastic anemia:HLA-B | urticaria:HCP5,HLA-B | spondyloarthropathy:HLA-B,HLA-C,MICA | vasculitis:DDR1,HLA-B,MICA | Behcet's disease:HLA-B,MICA | hepatitis C:HLA-B,HLA-C,LTA,NCR3 | autoimmune disease of the nervous system:HLA-DRA | arthropathy:HLA-B,HLA-C,MICA | hypotrichosis:HLA-B,MICA | tropical spastic paraparesis:HLA-C | parasitic infectious disease:HLA-B,LTA,NCR3,PRRC2A | malaria:HLA-B,LTA,NCR3,PRRC2A | hair disease:HLA-B,MICA | pulmonary sarcoidosis:DDR1 | purpura:HLA-B,LTA,MICA | myasthenia gravis:HLA-DRA | neuromuscular junction disease:HLA-DRA | brucellosis:MICA | duodenal ulcer:HSPA1A,LTA | autoimmune hepatitis:HLA-B | hepatitis B:HLA-C,MICA | upper respiratory tract disease:HLA-B,HLA-C,HSPA1A | uveitis:HSPA1L | parasitic protozoa infectious disease:HLA-B,LTA,NCR3,PRRC2A | urinary system disease:DDR1,HLA-B,HSPA1A | multiple myeloma:BAG6,HLA-B,IER3,LTA,MICA,NCR3 | myeloma:BAG6,HLA-B,IER3,LTA,MICA,NCR3 | reproductive system disease:HSPA1A,LTA,MICA,MSH5 | bone marrow cancer:BAG6,HLA-B,IER3,LTA,MICA,NCR3 | uveal disease:HSPA1L | bile duct disease:HLA-C | complex regional pain syndrome:HLA-B | biliary tract disease:HLA-C | azoospermia:MSH5 | proteinuria:DDR1 | kidney disease:DDR1,HLA-B,HSPA1A | alopecia:HLA-B,MICA | autoimmune disease of gastrointestinal tract:HLA-B,MICA | type 1 diabetes mellitus:LTA | blood coagulation disease:HLA-B,HLA-DRA,LTA,MICA | allergic rhinitis:HLA-B,HLA-C | hemorrhagic disease:HLA-B,HLA-DRA,LTA,MICA | neuromuscular disease:HLA-DRA | thyroiditis:HLA-B | nasal cavity disease:HLA-B,HLA-C | nose disease:HLA-B,HLA-C | rhinitis:HLA-B,HLA-C | prostatitis:HSPA1A | pancreatitis:HSPA1B,LTA | periodontitis:HLA-B | celiac disease:MICA | peptic ulcer disease:HSPA1A,LTA | hematopoietic system disease:HLA-B,HLA-DRA,LTA,MICA | gestational diabetes:MICA | anemia:HLA-B | male reproductive system disease:HSPA1A,MSH5 | male infertility:MSH5 | integumentary system disease:HCP5,HLA-B,MICA | periodontal disease:HLA-B | adrenal cortex disease:MICA | Human immunodeficiency virus infectious disease:HLA-B,HLA-C | adrenal gland disease:MICA | reactive arthritis:HLA-B | alcoholic pancreatitis:HSPA1B | interstitial lung disease:DDR1,MICA | bronchial disease:HSPA1A,HSPA1B,LTA | acute pancreatitis:HSPA1B,LTA | tuberculosis:HLA-B | autonomic nervous system disease:HLA-B | dengue hemorrhagic fever:LTA | prostate disease:HSPA1A | aortic valve disease:HLA-B | sclerosing cholangitis:HLA-C | tooth disease:HLA-B | dengue disease:LTA | pancreas disease:HSPA1B,LTA | influenza:HLA-B | chronic leukemia:HLA-B | Plasmodium falciparum malaria:HLA-B | lower respiratory tract disease:DDR1,HSPA1A,HSPA1B,LTA,MICA | Addison's disease:MICA | ovarian disease:MSH5 | essential hypertension:HSPA1A,HSPA1B,HSPA1L,LTA | female reproductive system disease:LTA,MSH5 | neuropathy:HLA-DRA | Duchenne muscular dystrophy:HLA-B | mouth disease:HLA-B | adrenal cortical hypofunction:MICA | migraine:LTA | alopecia areata:MICA | infertility:MICA,MSH5 | peripheral nervous system disease:HLA-B | age related macular degeneration:HLA-B | degeneration of macula and posterior pole:HLA-B | hemochromatosis:HLA-B | cell type benign neoplasm:DDR1,MICA | macular degeneration:HLA-B | cholangitis:HLA-C | pulmonary hypertension:HLA-B | Crohn's disease:HSPA1B,LTA | osteosarcoma:BAG6,MICA | lung disease:DDR1,HSPA1A,HSPA1B,LTA,MICA | spinal cord disease:HLA-C | heart valve disease:HLA-B | pulmonary edema:HSPA1A | lipodystrophy:HLA-B | inflammatory bowel disease:HSPA1B,LTA | myopathy:HLA-B | muscle tissue disease:HLA-B | bone cancer:BAG6,MICA | nasopharynx carcinoma:DDR1,HSPA1B | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HSPA1A,HSPA1B,HSPA1L | cardiomyopathy:HLA-B | muscular disease:HLA-B | endocrine organ benign neoplasm:DDR1,MICA | metal metabolism disorder:HLA-B | premature ovarian failure:MSH5 | liver cirrhosis:DDR1 | muscular dystrophy:HLA-B | gallbladder disease:MICA | esophageal carcinoma:HLA-B | cholelithiasis:MICA | skin disease:HCP5,HLA-B | retinal disease:HLA-B,LTA | female reproductive organ cancer:DDR1 | connective tissue cancer:BAG6,MICA | adenoma:DDR1,MICA | extrinsic cardiomyopathy:HLA-B | myocarditis:HLA-B | pulmonary fibrosis:MICA | coronary artery disease:LTA | retinal degeneration:HLA-B | integumentary system cancer:LTA | skin cancer:LTA | malignant ovarian surface epithelial-stromal neoplasm:DDR1 | ovary epithelial cancer:DDR1 | ovarian carcinoma:DDR1 | antigen processing and presentation of exogenous peptide antigen:HLA-B,HLA-C,HLA-DRA | antigen processing and presentation of exogenous antigen:HLA-B,HLA-C,HLA-DRA | antigen processing and presentation of peptide antigen:HLA-B,HLA-C,HLA-DRA | antigen processing and presentation:HLA-B,HLA-C,HLA-DRA | interferon-gamma-mediated signaling pathway:HLA-B,HLA-C,HLA-DRA | cellular response to interferon-gamma:HLA-B,HLA-C,HLA-DRA | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DRA | response to interferon-gamma:HLA-B,HLA-C,HLA-DRA | antigen processing and presentation of peptide antigen via MHC class II:HLA-DRA | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DRA | T cell receptor signaling pathway:HLA-DRA | immune response-activating signal transduction:BAG6,FLOT1,HLA-DRA,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DRA | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DRA,NCR3 | lymphocyte costimulation:HLA-DRA | antigen receptor-mediated signaling pathway:HLA-DRA | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DRA,NCR3 | positive regulation of cell-cell adhesion:FLOT1,HLA-DRA | positive regulation of leukocyte cell-cell adhesion:HLA-DRA | positive regulation of T cell activation:HLA-DRA | T cell activation:HLA-DRA,MICA | regulation of cell-cell adhesion:FLOT1,HLA-DRA | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-B,HLA-C | regulation of leukocyte cell-cell adhesion:HLA-DRA | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-B,HLA-C | positive regulation of cell adhesion:FLOT1,HLA-DRA | positive regulation of lymphocyte activation:HLA-DRA | positive regulation of cell activation:HLA-DRA | regulation of lymphocyte activation:HLA-DRA,MICA | regulation of T cell activation:HLA-DRA | regulation of leukocyte activation:HLA-DRA,MICA | leukocyte cell-cell adhesion:HLA-DRA | antigen processing and presentation of peptide antigen via MHC class I:HLA-B,HLA-C | positive regulation of leukocyte activation:HLA-DRA | lymphocyte mediated immunity:LTA,MICA,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:LTA,MICA,NCR3 | adaptive immune response:LTA,MICA,NCR3 | humoral immune response mediated by circulating immunoglobulin:LTA | natural killer cell mediated cytotoxicity:MICA,NCR3 | natural killer cell mediated immunity:MICA,NCR3 | T cell mediated cytotoxicity:MICA,NCR3 | response to type I interferon:HLA-C,HLA-B | type I interferon signaling pathway:HLA-B,HLA-C | cellular response to type I interferon:HLA-B,HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LTA | leukocyte mediated cytotoxicity:MICA,NCR3 | regulation of humoral immune response:LTA | positive regulation of defense response:FLOT1,HSPA1A,HSPA1B,LTA,NCR3 | positive regulation of cytokine production:FLOT1,HSPA1A,HSPA1B,LTA | T cell mediated immunity:MICA,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:LTA,MICA,NCR3 | positive regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | regulation of lymphocyte mediated immunity:LTA,MICA,NCR3 | regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,MICA,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LTA | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:MICA,NCR3 | positive regulation of lymphocyte mediated immunity:LTA,NCR3 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:LTA,NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:MICA,NCR3 | chronic inflammatory response:LTA | positive regulation of adaptive immune response:LTA,NCR3 | regulation of natural killer cell mediated immunity:MICA,NCR3 | interferon-gamma production:LTA | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | lymph node development:LTA | immunoglobulin mediated immune response:LTA | B cell mediated immunity:LTA | mRNA catabolic process:HSPA1A,HSPA1B | response to tumor necrosis factor:HSPA1A,HSPA1B,LTA | regulation of chronic inflammatory response:LTA | response to heat:HSPA1A,HSPA1B,HSPA1L,MICA | regulation of humoral immune response mediated by circulating immunoglobulin:LTA | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:LTA,MICA,NCR3 | activation of innate immune response:FLOT1,HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:LTA,NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | positive regulation of inflammatory response to antigenic stimulus:LTA | negative regulation of natural killer cell mediated cytotoxicity:MICA | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of heterotypic cell-cell adhesion:FLOT1 | negative regulation of natural killer cell mediated immunity:MICA | regulation of leukocyte mediated cytotoxicity:MICA,NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A | negative regulation of immune effector process:MICA | ER-associated misfolded protein catabolic process:BAG6 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | gamma-delta T cell activation:MICA | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | negative regulation of growth of symbiont in host:LTA | immune response to tumor cell:MICA,NCR3 | response to topologically incorrect protein:BAG6,HSPA1A,HSPA1L | positive regulation of humoral immune response:LTA | regulation of growth of symbiont in host:LTA | negative regulation of growth of symbiont involved in interaction with host:LTA | negative regulation of leukocyte mediated cytotoxicity:MICA | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | DNA-templated transcription, elongation:ZNRD1 | humoral immune response:LTA | regulation of inclusion body assembly:HSPA1A,HSPA1B | modulation of growth of symbiont involved in interaction with host:LTA | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:LTA,NCR3 | regulation of translational fidelity:VARS2 | regulation of cell killing:MICA,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | growth of symbiont in host:LTA | negative regulation of cell killing:MICA | regulation of interleukin-8 production:HSPA1A,HSPA1B | RNA phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | growth involved in symbiotic interaction:LTA | growth of symbiont involved in interaction with host:LTA | regulation of adaptive immune response:LTA,NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L,MICA | response to tumor cell:MICA,NCR3 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of interferon-gamma production:LTA | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | regulation of heterotypic cell-cell adhesion:FLOT1 | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:DDAH2 | cellular response to misfolded protein:BAG6 | regulation of inflammatory response to antigenic stimulus:LTA | natural killer cell activation:BAG6,MICA,NCR3 | reactive nitrogen species metabolic process:DDAH2 | cellular response to topologically incorrect protein:BAG6,HSPA1A | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A | regulation of reactive oxygen species biosynthetic process:DDAH2 | regulation of endocytosis:FLOT1 | protein quality control for misfolded or incompletely synthesized proteins:BAG6 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1 | negative regulation of multi-organism process:LTA | defense response to Gram-positive bacterium:LTA | response to endoplasmic reticulum stress:BAG6,FLOT1,HSPA1A | positive regulation of immune effector process:LTA,NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:ZNRD1 | termination of RNA polymerase I transcription:ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | positive regulation of T cell mediated immunity:NCR3 | spindle assembly:HSPA1A,HSPA1B | nucleic acid phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | transcription initiation from RNA polymerase I promoter:ZNRD1 | positive regulation of B cell mediated immunity:LTA | positive regulation of immunoglobulin mediated immune response:LTA | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:MICA | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | negative regulation of lymphocyte mediated immunity:MICA | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:ZNRD1 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5B,LY6G5C | regulation of interferon-gamma production:LTA | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | inflammatory response to antigenic stimulus:LTA | cytolysis:MICA | positive regulation of catabolic process:BAG6,HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | negative regulation of innate immune response:MICA | mRNA cleavage involved in mRNA processing:HSPA1A | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:LTA | synapsis:BAG6,MSH5 | protein folding:HSPA1A,HSPA1B,HSPA1L | negative regulation of leukocyte mediated immunity:MICA | positive regulation of protein catabolic process:BAG6,HSPA1A | positive regulation of cellular catabolic process:BAG6,HSPA1A | regulation of B cell mediated immunity:LTA | regulation of immunoglobulin mediated immune response:LTA | tRNA aminoacylation for protein translation:VARS2 | extracellular matrix organization:DDR1,FLOT1 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1 | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B,LTA | negative regulation of immune response:MICA | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | regulation of mRNA metabolic process:HSPA1A | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | syncytium formation:FLOT1 | regulation of symbiosis, encompassing mutualism through parasitism:LTA | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1,HSPA1A,HSPA1B | regulation of cellular protein catabolic process:BAG6,HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | defense response to bacterium:LTA,MICA | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1 | reactive oxygen species metabolic process:DDAH2 | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6 | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | gland morphogenesis:DDR1 | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | regulation of protein catabolic process:BAG6,HSPA1A | DNA-templated transcription, initiation:ZNRD1 | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:DDAH2 | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6 | regulation of muscle tissue development:FLOT1 | regulation of multi-organism process:LTA | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | negative regulation of fibroblast proliferation:LTA | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | mammary gland development:DDR1 | response to unfolded protein:HSPA1A,HSPA1L | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of defense response:MICA | smooth muscle cell migration:DDR1 | negative regulation of leukocyte activation:MICA | 0.112712 | 0.0637534 | 1.112271889951 | 0.1014 | 0.0641407 | 0.942588767099816 | 0.0664785 | 0.110138 | 0.262715099403079 | 0.467547 | 0.0694356 | 10.6697323690065 | 0.383654 | 0.0839755 | 5.27118132532429 | 0.551537 | 0.120082 | 5.28643134132665 | 0.0320331 | 0.0523654 | 0.266972953885215 | -0.0231272 | 0.0666578 | 0.137463150344615 | 0.0864897 | 0.0854116 | 0.506420670210129 | 0.0183979 | 0.0353409 | 0.219929794642809 | 0.0576035 | 0.0609103 | 0.463066761463558 | 0.0327057 | 0.0352815 | 0.451082623905963 | -0.0242379 | 0.0353811 | 0.306878320032697 | 0.0998682 | 0.0599033 | 1.02007257974672 | 0.0402362 | 0.033535 | 0.637883361275587 | 0.0714656 | 0.0388233 | 1.18275402370915 | -0.043085 | 0.0574106 | 0.343929601393634 | 0.0332974 | 0.0203863 | 0.989691561128922 | 0.0465045 | 0.0255455 | 1.16310838038625 | 0.0177358 | 0.0335006 | 0.224377903010372 | 0.114693 | 0.104059 | 0.567811859235407 | 0.159428 | 0.144308 | 0.569507306278156 | 0.0731992 | 0.149323 | 0.204715200076335 | |||||
rs28620926:40357171:A:G | known [10] | 15 | 40357171 | 15q15.1 | G | A | 1 | 52 | DHEAS ALL | 7659 | 10.6525763042926 | 0.368063715889803 | 0.84151 | SRP14-AS1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); BMF (23 kb); SRP14 (26 kb); EIF2AK4 (29 kb) | 1 Dehydroepiandrosterone sulphate levels // 0.719 Ewing sarcoma // 0.468 Endometrial cancer // 0.468 Endometrial endometrioid carcinoma | BMF | C15orf57 | CHST14 | EIF2AK4 | FSIP1 | IVD | RHOV | RP11-521C20.2 | RP11-521C20.4 | RP11-532F12.5 | SRP14 | SRP14-AS1 | THBS1 | unnamed | ZFYVE19 | Herpes simplex infection:EIF2AK4 | Phagosome:THBS1 | Influenza A:EIF2AK4 | Epstein-Barr virus infection:EIF2AK4 | MicroRNAs in cancer:BMF,THBS1 | Malaria:THBS1 | Protein processing in endoplasmic reticulum:EIF2AK4 | Measles:EIF2AK4 | Activation of BH3-only proteins:BMF | Intrinsic Pathway for Apoptosis:BMF | hepatitis:THBS1 | hepatitis C:THBS1 | urinary system disease:THBS1 | myeloma:THBS1 | bone marrow cancer:THBS1 | proteinuria:THBS1 | kidney disease:THBS1 | collagen disease:THBS1 | hemorrhagic disease:THBS1 | blood coagulation disease:THBS1 | rheumatic disease:THBS1 | systemic scleroderma:THBS1 | scleroderma:THBS1 | hemorrhagic fever with renal syndrome:THBS1 | hematopoietic system disease:THBS1 | osteoporosis:THBS1 | bone resorption disease:THBS1 | cell type benign neoplasm:THBS1 | thyroid cancer:THBS1 | myositis:THBS1 | myopathy:THBS1 | muscle tissue disease:THBS1 | muscular disease:THBS1 | keratoacanthoma:THBS1 | Down syndrome:THBS1 | female reproductive organ cancer:THBS1 | adenoma:THBS1 | coronary artery disease:THBS1 | integumentary system cancer:THBS1 | skin cancer:THBS1 | antigen processing and presentation:THBS1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:THBS1 | modulation by virus of host morphology or physiology:EIF2AK4 | modification by symbiont of host morphology or physiology:EIF2AK4 | modulation by virus of host process:EIF2AK4 | positive regulation of cell activation:THBS1 | modulation by symbiont of host cellular process:EIF2AK4 | positive regulation of leukocyte activation:THBS1 | regulation of leukocyte activation:THBS1 | modification of morphology or physiology of other organism involved in symbiotic interaction:EIF2AK4 | cellular response to tumor necrosis factor:THBS1 | chronic inflammatory response:THBS1 | T cell activation:EIF2AK4 | response to tumor necrosis factor:THBS1 | modification of morphology or physiology of other organism:EIF2AK4 | positive regulation of protein homooligomerization:BMF | regulation of immune effector process:EIF2AK4 | protein insertion into membrane:BMF | adaptive immune response:EIF2AK4 | regulation of antigen processing and presentation:THBS1 | apoptotic cell clearance:THBS1 | positive regulation of adaptive immune response:EIF2AK4 | positive regulation of translation:EIF2AK4,THBS1 | interaction with host:EIF2AK4 | regulation of protein homooligomerization:BMF | positive regulation of reactive oxygen species metabolic process:THBS1 | positive regulation of cytokine production:THBS1 | positive regulation of protein oligomerization:BMF | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:BMF | cellular response to amino acid starvation:EIF2AK4 | positive regulation of cellular amide metabolic process:EIF2AK4,THBS1 | positive regulation of release of cytochrome c from mitochondria:BMF | regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway:BMF | positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway:BMF | regulation of adaptive immune response:EIF2AK4 | protein insertion into mitochondrial membrane involved in apoptotic signaling pathway:BMF | cellular response to fibroblast growth factor stimulus:THBS1 | response to drug:SRP14,THBS1 | positive regulation of translational initiation:EIF2AK4 | response to fibroblast growth factor:THBS1 | mitochondrial outer membrane permeabilization:BMF | phagocytosis:THBS1 | regulation of autophagy:BMF,EIF2AK4 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:BMF | positive regulation of protein complex assembly:BMF | negative regulation of autophagy:BMF | regulation of defense response to virus:EIF2AK4 | mitochondrial outer membrane permeabilization involved in programmed cell death:BMF | cellular response to UV:BMF,EIF2AK4 | positive regulation of mitochondrial membrane permeability:BMF | mitochondrial membrane organization:BMF | macrophage activation:THBS1 | regulation of mitochondrial membrane permeability involved in apoptotic process:BMF | positive regulation of membrane permeability:BMF | regulation of macrophage activation:THBS1 | negative regulation of immune system process:THBS1 | negative regulation of cellular catabolic process:BMF | regulation of protein kinase B signaling:THBS1 | negative regulation of hydrolase activity:THBS1 | negative regulation of chemotaxis:THBS1 | regulation of mononuclear cell migration:THBS1 | negative regulation of ion transmembrane transport:THBS1 | autophagy:BMF,EIF2AK4 | process utilizing autophagic mechanism:BMF,EIF2AK4 | regulation of protein processing:THBS1 | negative regulation of catabolic process:BMF | negative regulation of proteolysis:THBS1 | blood vessel endothelial cell migration:THBS1 | sprouting angiogenesis:THBS1 | negative regulation of transmembrane transport:THBS1 | regulation of protein complex assembly:BMF | regulation of leukocyte chemotaxis:THBS1 | regulation of protein maturation:THBS1 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:THBS1 | -0.0161565 | 0.0177349 | 0.440809414233174 | -0.0309763 | 0.0159558 | 1.2805112683689 | 0.013101 | 0.0349963 | 0.149880260071314 | 0.010103 | 0.0195144 | 0.218454285846062 | 0.00841677 | 0.0210589 | 0.161492814687638 | 0.0170733 | 0.0396678 | 0.175854633037778 | 0.0183892 | 0.0145546 | 0.684943262654492 | 0.00335202 | 0.0165902 | 0.0757677650556394 | 0.0492203 | 0.0277659 | 1.11514688495335 | 0.0694955 | 0.0103873 | 10.6525763042926 | 0.0579013 | 0.0129378 | 5.11753864709669 | 0.0847209 | 0.0167034 | 6.40507844101137 | 0.0226841 | 0.0102958 | 1.55943408317751 | 0.0146244 | 0.0108197 | 0.753277436168479 | 0.0440277 | 0.0175093 | 1.92376018022497 | -0.00898752 | 0.00998466 | 0.434093177932342 | 0.0125718 | 0.0122073 | 0.518447020254251 | 0.00190699 | 0.00598495 | 0.124934683212051 | 0.00259306 | 0.00772765 | 0.132411727895387 | -0.0326192 | 0.0294032 | 0.572835348810326 | -0.0369117 | 0.0368906 | 0.498639439211245 | -0.0281182 | 0.048677 | 0.24895735826168 | |||||||
rs6935999:32392757:G:A | 6 | 32392757 | 6p21.32 | A | G | 0.983 | 6 | OHP17 ALL | 2070 | 10.5626791891708 | 0.0112314009661836 | HLA-DRA (15 kb); BTNL2 (18 kb); HCG23 (31 kb); HLA-DRB9 (35 kb) | 0.404 Marginal zone lymphoma // 0.347 Blood protein levels | - | ABHD16A | AGER | AIF1 | APOM | ATF6B | ATP6V1G2 | B3GALT4 | BAG6 | BRD2 | C4A | C4B | C4B 2 | C6orf10 | C6orf25 | C6orf48 | CFB | CLIC1 | CSNK2B | CUTA | CYP21A2 | DDAH2 | DDR1 | DXO | FLOT1 | GPANK1 | GPSM3 | HCG23 | HCG27 | HCP5 | HLA-C | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB1-AS1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB9 | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LY6G5B | LY6G5C | MCCD1 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NOTCH4 | PHF1 | PPT2 | PRRC2A | PRRT1 | PSMB9 | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TNF | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG254F23.6 | ZBTB12 | ABP1 | FLOT1 | HLA-C | IER3 | LIMS1 | LINC00243 | MDC1 | NCR3 | VARS2 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Allograft rejection:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Staphylococcus aureus infection:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Asthma:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phagosome:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Rheumatoid arthritis:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Toxoplasmosis:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Leishmaniasis:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Influenza A:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Epstein-Barr virus infection:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th17 cell differentiation:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Tuberculosis:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C | Proteasome:PSMB9 | Aminoacyl-tRNA biosynthesis:VARS2 | Translocation of ZAP-70 to Immunological synapse:HLA-DRA,HLA-DRB1,HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DRA,HLA-DRB1,HLA-DRB5 | Interferon gamma signaling:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | PD-1 signaling:HLA-DRA,HLA-DRB1,HLA-DRB5 | Generation of second messenger molecules:HLA-DRA,HLA-DRB1,HLA-DRB5 | Downstream TCR signaling:HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | Interferon Signaling:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | TCR signaling:HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | MHC class II antigen presentation:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | Costimulation by the CD28 family:HLA-DRA,HLA-DRB1,HLA-DRB5 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,PSMB9,TAP2 | Antigen processing-Cross presentation:HLA-C,PSMB9,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B,PSMB9 | TNFR2 non-canonical NF-kB pathway:PSMB9 | Butyrophilin (BTN) family interactions:BTNL2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | HIV Infection:PSMB9 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B,PSMB9 | Class I MHC mediated antigen processing & presentation:HLA-C,PSMB9,TAP2 | Transcriptional regulation by RUNX3:PSMB9 | Vpu mediated degradation of CD4:PSMB9 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B,PSMB9 | SCF-beta-TrCP mediated degradation of Emi1:PSMB9 | NIK-->noncanonical NF-kB signaling:PSMB9 | Dectin-1 mediated noncanonical NF-kB signaling:PSMB9 | Degradation of GLI1 by the proteasome:PSMB9 | Degradation of GLI2 by the proteasome:PSMB9 | GLI3 is processed to GLI3R by the proteasome:PSMB9 | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Regulation of PTEN stability and activity:PSMB9 | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:PSMB9 | ABC-family proteins mediated transport:PSMB9 | Activation of NF-kappaB in B cells:PSMB9 | G2/M Transition:PSMB9 | Mitotic G2-G2/M phases:PSMB9 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | The role of GTSE1 in G2/M progression after G2 checkpoint:PSMB9 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B | Regulation of APC/C activators between G1/S and early anaphase:PSMB9 | ABC transporter disorders:PSMB9 | Cyclin A:Cdk2-associated events at S phase entry:PSMB9 | Interleukin-1 family signaling:PSMB9 | Degradation of beta-catenin by the destruction complex:PSMB9 | FCERI mediated NF-kB activation:PSMB9 | Cyclin E associated events during G1/S transition :PSMB9 | Downstream signaling events of B Cell Receptor (BCR):PSMB9 | Influenza Life Cycle:HSPA1A,HSPA1B | APC/C-mediated degradation of cell cycle proteins:PSMB9 | Regulation of mitotic cell cycle:PSMB9 | tRNA Aminoacylation:VARS2 | Cross-presentation of soluble exogenous antigens (endosomes):PSMB9 | Regulation of activated PAK-2p34 by proteasome mediated degradation:PSMB9 | Regulation of ornithine decarboxylase (ODC):PSMB9 | CDK-mediated phosphorylation and removal of Cdc6:PSMB9 | Ubiquitin-dependent degradation of Cyclin D1:PSMB9 | Ubiquitin-dependent degradation of Cyclin D:PSMB9 | Autodegradation of the E3 ubiquitin ligase COP1:PSMB9 | Regulation of Apoptosis:PSMB9 | Ubiquitin Mediated Degradation of Phosphorylated Cdc25A:PSMB9 | p53-Independent DNA Damage Response:PSMB9 | p53-Independent G1/S DNA damage checkpoint:PSMB9 | Vif-mediated degradation of APOBEC3G:PSMB9 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis:PSMB9 | C-type lectin receptors (CLRs):PSMB9 | Degradation of AXIN:PSMB9 | Regulation of RUNX3 expression and activity:PSMB9 | Hh mutants that don't undergo autocatalytic processing are degraded by ERAD:PSMB9 | Degradation of DVL:PSMB9 | Stabilization of p53:PSMB9 | CLEC7A (Dectin-1) signaling:PSMB9 | Hh mutants abrogate ligand secretion:PSMB9 | CDT1 association with the CDC6:ORC:origin complex:PSMB9 | SCF(Skp2)-mediated degradation of p27/p21:PSMB9 | Regulation of expression of SLITs and ROBOs:PSMB9 | Deadenylation-dependent mRNA decay:SKIV2L | Chaperonin-mediated protein folding:SKIV2L | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | Autodegradation of Cdh1 by Cdh1:APC/C:PSMB9 | Asymmetric localization of PCP proteins:PSMB9 | Hedgehog ligand biogenesis:PSMB9 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha:PSMB9 | p53-Dependent G1 DNA Damage Response:PSMB9 | p53-Dependent G1/S DNA damage checkpoint:PSMB9 | APC/C:Cdc20 mediated degradation of Securin:PSMB9 | Hedgehog 'off' state:PSMB9 | Kawasaki disease:HLA-C,HLA-DRB1,BTNL2 | lymphadenitis:HLA-C,HLA-DRB1,BTNL2 | lymph node disease:HLA-C,HLA-DRB1,BTNL2 | lymphatic system disease:HLA-C,HLA-DRB1,BTNL2 | leprosy:BTNL2,HLA-DRB1 | sarcoidosis:BTNL2,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:BTNL2,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DRB1,TAP2 | multiple sclerosis:BTNL2,HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | endocrine system disease:HLA-C,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:BTNL2,HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graves' disease:HLA-C,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DRB1 | primary bacterial infectious disease:BTNL2,HLA-DRB1,PSMB9,TAP2 | hepatitis:HLA-C,HLA-DRB1,NCR3,PSMB9 | hyperthyroidism:HLA-C,HLA-DRB1,TAP2 | vitiligo:HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DRB1 | bacterial infectious disease:BTNL2,HLA-DRB1,PSMB9,TAP2 | aplastic anemia:HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,TAP2 | malaria:HLA-DRB1,NCR3 | pulmonary sarcoidosis:HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DRA | neuromuscular junction disease:HLA-DRA | brucellosis:TAP2,PSMB9 | duodenal ulcer:HSPA1A | cholestasis:HLA-DRB1 | autoimmune hepatitis:HLA-DRB1 | hepatitis B:HLA-C,HLA-DRB1,PSMB9 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3 | urinary system disease:HLA-DRB1,HSPA1A,LIMS1 | multiple myeloma:NCR3 | myeloma:NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:NCR3 | uveal disease:HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:HLA-DRB1 | kidney disease:HLA-DRB1,HSPA1A,LIMS1 | autoimmune disease of gastrointestinal tract:HLA-DRB1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:HLA-DRB1,HSPA1B | nephritis:HLA-DRB1 | celiac disease:HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DRA,HLA-DRB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DRB1 | rheumatic disease:HLA-DRB1,TAP2 | systemic scleroderma:HLA-DRB1,TAP2 | scleroderma:HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DRB1 | sickle cell anemia:HLA-DRB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:BTNL2,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L,PSMB9 | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DRA | Sjogren's syndrome:PSMB9 | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:BTNL2,HSPA1B | lung disease:HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | pulmonary edema:HSPA1A | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,BTNL2 | myopathy:HLA-DRB1 | muscle tissue disease:HLA-DRB1 | nasopharynx carcinoma:HSPA1B | pharynx cancer:HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:HLA-DRB1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1 | retinal disease:HLA-DRB1,TAP2 | female reproductive organ cancer:HLA-DRB1 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DRB1 | ovary epithelial cancer:HLA-DRB1 | ovarian carcinoma:HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | cellular response to interferon-gamma:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | response to interferon-gamma:HLA-C,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell receptor signaling pathway:HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-activating signal transduction:HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,NCR3,PSMB9 | T cell costimulation:HLA-DRA,HLA-DRB1,HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB9 | lymphocyte costimulation:HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-regulating cell surface receptor signaling pathway:HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB9 | positive regulation of cell-cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of T cell activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of cell-cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,PSMB9,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,PSMB9,TAP2 | positive regulation of cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5,LIMS1 | positive regulation of lymphocyte activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of cell activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of lymphocyte activation:HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | regulation of T cell activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of leukocyte activation:HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,PSMB9,TAP2 | positive regulation of leukocyte activation:HLA-DRA,HLA-DRB1,HLA-DRB5 | lymphocyte mediated immunity:NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | adaptive immune response:NCR3,TAP2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LIMS1,PSMB9 | leukocyte mediated cytotoxicity:NCR3 | positive regulation of defense response:HSPA1A,HSPA1B,NCR3,PSMB9 | positive regulation of cytokine production:HSPA1A,HSPA1B | T cell mediated immunity:NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:NCR3 | positive regulation of innate immune response:HSPA1A,HSPA1B,NCR3,PSMB9 | regulation of lymphocyte mediated immunity:NCR3 | NIK/NF-kappaB signaling:LIMS1,PSMB9 | regulation of innate immune response:HSPA1A,HSPA1B,NCR3,PSMB9 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB9 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB9 | cell killing:NCR3 | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB9 | regulation of leukocyte proliferation:LST1 | mRNA catabolic process:HSPA1A,HSPA1B,PSMB9,SKIV2L | response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB9 | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | regulation of leukocyte mediated immunity:NCR3 | activation of innate immune response:HSPA1A,HSPA1B,PSMB9 | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A,PSMB9 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB9 | positive regulation of ubiquitin protein ligase activity:PSMB9 | RNA catabolic process:HSPA1A,HSPA1B,PSMB9,SKIV2L | immune response to tumor cell:NCR3 | response to topologically incorrect protein:HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:HSPA1A,HSPA1B,PSMB9 | regulation of ubiquitin protein ligase activity:PSMB9 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | lymphocyte proliferation:LST1 | mononuclear cell proliferation:LST1 | regulation of translational fidelity:VARS2 | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB9 | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:HSPA1A,HSPA1B | interleukin-8 production:HSPA1A,HSPA1B | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | positive regulation of ubiquitin-protein transferase activity:PSMB9 | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | natural killer cell activation:NCR3 | nuclear-transcribed mRNA catabolic process, exonucleolytic:SKIV2L | cellular response to topologically incorrect protein:HSPA1A | protein stabilization:HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | mRNA cleavage:HSPA1A | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A,PSMB9 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process:PSMB9 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition:PSMB9 | response to endoplasmic reticulum stress:HSPA1A | positive regulation of immune effector process:NCR3 | stimulatory C-type lectin receptor signaling pathway:PSMB9 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | regulation of ubiquitin-protein transferase activity:PSMB9 | pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | innate immune response activating cell surface receptor signaling pathway:PSMB9 | positive regulation of T cell mediated immunity:NCR3 | positive regulation of NIK/NF-kappaB signaling:LIMS1 | spindle assembly:HSPA1A,HSPA1B | nucleic acid phosphodiester bond hydrolysis:HSPA1A | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:SKIV2L | nuclear-transcribed mRNA catabolic process:SKIV2L | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of response to endoplasmic reticulum stress:HSPA1A | positive regulation of leukocyte mediated cytotoxicity:NCR3 | negative regulation of immune system process:HLA-DOB,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:HSPA1A,PSMB9 | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | post-translational protein modification:PSMB9 | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:LY6G5B,LY6G5C | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:HSPA1A,PSMB9 | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:HSPA1A,PSMB9 | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:HSPA1A,PSMB9 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | mRNA cleavage involved in mRNA processing:HSPA1A | microtubule polymerization:HSPA1A,HSPA1B | synapsis:MSH5 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:HSPA1A,PSMB9 | positive regulation of cellular catabolic process:HSPA1A,PSMB9 | tRNA aminoacylation for protein translation:VARS2 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:SKIV2L | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | negative regulation of growth:HSPA1A,HSPA1B | tRNA aminoacylation:VARS2 | regulation of mRNA metabolic process:HSPA1A,PSMB9 | regulation of NIK/NF-kappaB signaling:LIMS1 | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A,PSMB9 | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | regulation of cellular amino acid metabolic process:PSMB9 | positive regulation of cellular component biogenesis:HSPA1A,HSPA1B | regulation of cellular protein catabolic process:HSPA1A,PSMB9 | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:PSMB9 | mitochondrial membrane organization:HSPA1A | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:PSMB9 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:HSPA1A | homologous chromosome segregation:MSH5 | positive regulation of cell junction assembly:LIMS1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of mRNA catabolic process:HSPA1A,PSMB9 | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | cellular amino acid metabolic process:PSMB9,VARS2 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | regulation of protein catabolic process:HSPA1A | negative regulation of mitotic cell cycle:PSMB9 | Fc-epsilon receptor signaling pathway:PSMB9 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | chromosome organization involved in meiotic cell cycle:MSH5 | regulation of cell cycle phase transition:PSMB9 | positive regulation of protein ubiquitination:PSMB9 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:HSPA1A,HSPA1B | G2/M transition of mitotic cell cycle:PSMB9 | negative regulation of ubiquitin protein ligase activity:PSMB9 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | regulation of response to endoplasmic reticulum stress:HSPA1A | response to unfolded protein:HSPA1A,HSPA1L | regulation of transcription from RNA polymerase II promoter in response to hypoxia:PSMB9 | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of cellular amine metabolic process:PSMB9 | negative regulation of leukocyte activation:LST1 | cell cycle G2/M phase transition:PSMB9 | anaphase-promoting complex-dependent catabolic process:PSMB9 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:SKIV2L | regulation of G2/M transition of mitotic cell cycle:PSMB9 | 0.167481 | 0.0771903 | 1.5208192896142 | 0.23772 | 0.0733567 | 2.91301765229979 | 0.0653791 | 0.141067 | 0.19176673881738 | 0.563282 | 0.0841122 | 10.5626791891708 | 0.356929 | 0.096578 | 3.64211658565466 | 0.839311 | 0.154599 | 7.10812315592207 | 0.125792 | 0.0633717 | 1.32533355496927 | 0.0898952 | 0.0764243 | 0.620339213327307 | 0.167672 | 0.110494 | 0.887421807594228 | -0.0233257 | 0.0466947 | 0.209432671429676 | 1.25542E-4 | 0.0562704 | 7.73733004635244E-4 | -0.0564482 | 0.0786425 | 0.325238032961193 | 0.0189026 | 0.0458497 | 0.167401682927035 | 0.00519718 | 0.0470849 | 0.0399532589633753 | 0.0568096 | 0.0776962 | 0.332854430884545 | 0.110709 | 0.0450871 | 1.85168120990651 | 0.012711 | 0.0266883 | 0.197994321022477 | 0.00964121 | 0.0337582 | 0.110593519078557 | 0.0169696 | 0.0431381 | 0.158616124633181 | 0.267474 | 0.130341 | 1.39481243401146 | 0.341353 | 0.190293 | 1.13499676018113 | |||||||||||
rs139203625:95099865:C:T | novel2 | 11 | 95099865 | 11q21 | T | C | 0.92 | 5 | PROG ALL | 2070 | 10.4553863283378 | 0.0125289855072464 | SESN3 (130 kb); ENDOD1 (230 kb) | NA | RP11-712B9.2 | Longevity regulating pathway:SESN3 | Transcriptional Regulation by TP53:SESN3 | TP53 Regulates Metabolic Genes:SESN3 | cellular response to amino acid stimulus:SESN3 | nucleic acid phosphodiester bond hydrolysis:ENDOD1 | cellular response to amino acid starvation:SESN3 | 0.524075 | 0.0786923 | 10.4553863283378 | 0.141194 | 0.0754369 | 1.21136787463112 | 0.742308 | 0.145465 | 6.475839 | 0.293057 | 0.0872632 | 3.09775390654048 | 0.16002 | 0.0994649 | 0.967014781576196 | 0.456934 | 0.162578 | 2.29393115767279 | 0.0952608 | 0.0652491 | 0.840267421387602 | 0.0522454 | 0.0784168 | 0.296396557991996 | 0.137706 | 0.114553 | 0.638797411330525 | 0.0936218 | 0.0460384 | 1.37679310708524 | 0.0748151 | 0.0574498 | 0.714836659965439 | 0.12056 | 0.0740063 | 0.98588706604546 | 0.0472864 | 0.0456273 | 0.522830975514617 | 0.00451133 | 0.0480935 | 0.033733865579596 | 0.0976601 | 0.0756527 | 0.706111747877248 | 0.02344 | 0.0697627 | 0.132606766934578 | 0.0292121 | 0.0264375 | 0.56995559781495 | 0.0146937 | 0.0344893 | 0.173872696214423 | 0.0486289 | 0.0409986 | 0.627865269592583 | 0.0915822 | 0.134144 | 0.305510628372599 | 0.372543 | 0.197151 | 1.22745020186025 | ||||||||||||
rs151006058:51515455:G:GGAAT | 15 | 51515455 | 15q21.2 | GGAAT | G | 0.939 | 0 | E2 MEN | 4191 | 10.391403372565 | 0.27145602481508 | 0.127017 | RP11-108K3.1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP19A1 (0 kb, intron/Intron/MODIFIER | near gene/Upstream gene/MODIFIER); MIR4713 (19 kb); TNFAIP8L3 (120 kb) | NA | CYP19A1 | GLDN | Steroid hormone biosynthesis:CYP19A1 | Cytochrome P450 - arranged by substrate type:CYP19A1 | Metabolism of steroid hormones:CYP19A1 | Phase I - Functionalization of compounds:CYP19A1 | Endogenous sterols:CYP19A1 | Metabolic disorders of biological oxidation enzymes:CYP19A1 | Biological oxidations:CYP19A1 | endocrine system disease:CYP19A1 | male reproductive system disease:CYP19A1 | male infertility:CYP19A1 | hyperandrogenism:CYP19A1 | gonadal disease:CYP19A1 | polycystic ovary syndrome:CYP19A1 | reproductive system disease:CYP19A1 | prostate disease:CYP19A1 | sex differentiation disease:CYP19A1 | essential hypertension:CYP19A1 | osteoporosis:CYP19A1 | bone resorption disease:CYP19A1 | cell type benign neoplasm:CYP19A1 | infertility:CYP19A1 | sporadic breast cancer:CYP19A1 | ovarian disease:CYP19A1 | female reproductive organ cancer:CYP19A1 | chronic inflammatory response:CYP19A1 | regulation of chronic inflammatory response:CYP19A1 | cellular hormone metabolic process:CYP19A1 | steroid catabolic process:CYP19A1 | hormone biosynthetic process:CYP19A1 | steroid metabolic process:CYP19A1 | hormone metabolic process:CYP19A1 | mammary gland development:CYP19A1 | androgen metabolic process:CYP19A1 | steroid biosynthetic process:CYP19A1 | estrogen biosynthetic process:CYP19A1 | ketone biosynthetic process:CYP19A1 | negative regulation of immune system process:CYP19A1 | negative regulation of chemotaxis:CYP19A1 | lipid transport:CYP19A1,TNFAIP8L3 | regulation of leukocyte chemotaxis:CYP19A1 | lipid localization:CYP19A1,TNFAIP8L3 | 0.0279234 | 0.01926 | 0.83190930556334 | 0.0205814 | 0.0173535 | 0.627408315296699 | 0.031167 | 0.0385089 | 0.378495523947174 | -0.0245472 | 0.0211935 | 0.607480669061026 | -0.0165246 | 0.0228806 | 0.327633332305881 | -0.033787 | 0.0430453 | 0.363748873713923 | -0.00436202 | 0.0158169 | 0.106380807550034 | 0.00151957 | 0.0180279 | 0.0301937708460265 | -0.0109585 | 0.0302031 | 0.144575951305462 | 0.0104323 | 0.0116902 | 0.429248135346616 | 0.00294132 | 0.0144243 | 0.0765383704056265 | 0.018678 | 0.0190244 | 0.486510717828923 | -0.0043288 | 0.0114763 | 0.151177460022824 | 0.00722599 | 0.0120208 | 0.261411270854462 | -0.0135709 | 0.0196143 | 0.310683147799962 | 0.066367 | 0.01119 | 8.52103978792981 | 0.0893163 | 0.013529 | 10.391403372565 | 0.0357922 | 0.0182166 | 1.30596282596725 | 0.00304695 | 0.00669176 | 0.187840296722692 | 0.0110662 | 0.00856772 | 0.706655126848768 | -0.00743044 | 0.0105954 | 0.315942286596874 | -0.00807422 | 0.0318327 | 0.097020772223342 | -0.0085845 | 0.039722 | 0.0814810945836716 | -0.0110446 | 0.0532258 | 0.0779610308881882 | ||
rs62059803:7451844:C:T | 17 | 7451844 | 17p13.1 | T | C | 0.968 | 33 | TESTO MEN | 4291 | 10.3391165057865 | 0.22048862735959 | 0.113021 | TNFSF12 (0.36 kb, near gene/Upstream gene/MODIFIER); TNFSF12-TNFSF13 (0.57 kb, near gene/Upstream gene/MODIFIER); TNFSF13 (9.8 kb); SENP3 (13 kb); SENP3-EIF4A1 (15 kb); EIF4A1 (24 kb); SNORA67 (24 kb); SNORA48 (26 kb); SNORD10 (28 kb); CD68 (31 kb); POLR2A (34 kb); MPDU1 (35 kb); SOX15 (40 kb); FXR2 (43 kb) | 0.776 Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.776 Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.776 Systolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.776 Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.768 Blood protein levels // 0.74 Chin dimples // 0.607 Testosterone levels // 0.607 Sex hormone-binding globulin levels // 0.492 IgA nephropathy | - | AC113189.5 | ACAP1 | ASGR2 | ATP1B2 | C17orf61 | C17orf61-PLSCR3 | C17orf81 | CD68 | CHRNB1 | CTDNEP1 | CYB5D1 | EIF4A1 | EIF5A | FGF11 | FXR2 | KCTD11 | LOC100130387 | LSMD1 | MED31 | MPDU1 | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SENP3-EIF4A1 | SHBG | SNORA48 | SOX15 | SPEM1 | TMEM102 | TMEM256-PLSCR3 | TMEM88 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | ZBTB4 | EIF4A1P2 | EIF5AL1 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Endocytosis:ACAP1 | Thyroid hormone synthesis:ASGR2,ATP1B2 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | Aldosterone synthesis and secretion:ATP1B2 | RNA transport:EIF4A1,FXR2 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Asparagine N-linked glycosylation:ASGR2,MPDU1 | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | malignant glioma:ATP1B2 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | stem cell proliferation:KCTD11 | protein stabilization:ATP1B2 | positive regulation of cell cycle:SOX15 | regulation of lymphocyte mediated immunity:TNFSF13 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13 | negative regulation of neurogenesis:KCTD11 | negative regulation of translation:FXR2,POLR2A | protein N-linked glycosylation via asparagine:ASGR2 | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | peptidyl-asparagine modification:ASGR2 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:FXR2,POLR2A | negative regulation of nervous system development:KCTD11 | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:ASGR2 | regulation of protein stability:ASGR2,ATP1B2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | negative regulation of cell development:KCTD11 | aging:EIF5A | protein export from nucleus:EIF5A | protein localization to nucleus:CTDNEP1 | glycerolipid metabolic process:CTDNEP1 | regulation of stem cell proliferation:KCTD11 | mRNA catabolic process:EIF4A1,TNFSF13 | triglyceride metabolic process:CTDNEP1 | protein N-linked glycosylation:ASGR2 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | smoothened signaling pathway:KCTD11 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | regulation of neural precursor cell proliferation:KCTD11 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | acylglycerol metabolic process:CTDNEP1 | potassium ion homeostasis:ATP1B2 | neutral lipid metabolic process:CTDNEP1 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of ion transmembrane transporter activity:ATP1B2 | regulation of apoptotic signaling pathway:TNFSF12 | regulation of transmembrane transporter activity:ATP1B2 | RNA catabolic process:EIF4A1,TNFSF13 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:ATP1B2,CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | regulation of striated muscle tissue development:SOX15 | regulation of transporter activity:ATP1B2 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | regulation of canonical Wnt signaling pathway:CTDNEP1 | DNA-templated transcription, termination:POLR2A | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | -0.007386 | 0.0208245 | 0.140941601017355 | -0.0223279 | 0.0187838 | 0.629348150780896 | 0.0205864 | 0.0414154 | 0.208212540060985 | 0.0278097 | 0.0229035 | 0.648194033635624 | 0.0303443 | 0.0247576 | 0.656510660533906 | 0.0167001 | 0.0464464 | 0.143098392614433 | 0.0261282 | 0.0170842 | 0.898510693089732 | 0.0266547 | 0.0195005 | 0.764741808730474 | 0.0204599 | 0.0325723 | 0.275629087667846 | -0.0133425 | 0.0123794 | 0.551102076403815 | -0.01883 | 0.019823 | 0.465773301304853 | 0.058322 | 0.0122016 | 5.75597536304476 | 0.0845945 | 0.0128485 | 10.3391165057865 | 0.0284974 | 0.0206769 | 0.77434703783153 | 0.0416498 | 0.011853 | 3.35492274857356 | 0.0513908 | 0.0145557 | 3.3824063187831 | 0.0143824 | 0.00710271 | 1.36778573774994 | 0.0152632 | 0.00920028 | 1.01270563604268 | 0.0130954 | 0.0110797 | 0.6248230684519 | -0.0168351 | 0.0344938 | 0.203731723275035 | 0.00160686 | 0.0432776 | 0.0130545826752902 | -0.0452123 | 0.0571316 | 0.367539670801546 | |||||||
rs115448006:30669268:G:T | 6 | 30669268 | 6p21.33 | T | G | 0.982 | 1 | OHP17 ALL | 2070 | 10.3049791301853 | 0.0100891304347826 | MDC1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); MDC1-AS1 (1.6 kb, near gene/Upstream gene/MODIFIER); RPL7P4 (4 kb, near gene/Upstream gene/MODIFIER); NRM (10 kb); PPP1R18 (14 kb); TUBB (19 kb); FLOT1 (26 kb); DHX16 (28 kb); IER3 (42 kb); C6orf136 (48 kb); RN7SL353P (50 kb) | 0.913 Plantar warts // 0.46 Response to angiotensin II receptor blocker therapy // 0.404 Blood protein levels // 0.375 Drug-induced liver injury | - | ABCF1 | ABHD16A | AIF1 | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DDX39BP2 | DXO | FLOT1 | GABBR1 | GPANK1 | HCG22 | HCG27 | HCG4 | HCG4B | HCG4P3 | HCG4P7 | HCG9 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB6 | HLA-E | HLA-F | HLA-F-AS1 | HLA-G | HLA-H | HLA-J | HLA-K | HLA-T | HLA-U | HLA-V | HLA-W | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6E | MICA | MICB | MICD | MICE | MICF | MIR6891 | MRPS18B | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NRM | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | RNF39 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TCF19 | TNF | TRIM10 | TRIM31 | TRIM39 | TUBB | unnamed | VARS2 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | Y RNA | ZFP57 | ZNRD1 | ZNRD1-AS1 | BTN3A2 | C4A | C4B | C4B 2 | C6orf10 | DXO | HLA-DQA1 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-V | HSPA1L | NHP2 | STK19 | TAP2 | TMEM154 | Type I diabetes mellitus:HLA-C,HLA-E | Allograft rejection:HLA-C,HLA-E | Graft-versus-host disease:HLA-C,HLA-E | Antigen processing and presentation:HLA-C,HLA-E | Autoimmune thyroid disease:HLA-C,HLA-E | Viral myocarditis:HLA-C,HLA-E | Phagosome:HLA-C,HLA-E,TUBB | Herpes simplex infection:HLA-C,HLA-E | Cell adhesion molecules (CAMs):HLA-C,HLA-E | Epstein-Barr virus infection:HLA-C,HLA-E | Human T-cell leukemia virus 1 infection:HLA-C,HLA-E | Natural killer cell mediated cytotoxicity:HLA-C,HLA-E,NCR3 | Endocytosis:HLA-C,HLA-E | Human cytomegalovirus infection:HLA-C,HLA-E | Kaposi sarcoma-associated herpesvirus infection:HLA-C,HLA-E | Viral carcinogenesis:HLA-C,HLA-E | Human immunodeficiency virus 1 infection:HLA-C,HLA-E | Spliceosome:DHX16 | Cellular senescence:HLA-C,HLA-E | Human papillomavirus infection:HLA-C,HLA-E | Aminoacyl-tRNA biosynthesis:VARS2 | Interferon gamma signaling:HLA-C,HLA-E | Interferon Signaling:HLA-C,HLA-E | Endosomal/Vacuolar pathway:HLA-C,HLA-E | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,HLA-E | ER-Phagosome pathway:HLA-C,HLA-E | Antigen processing-Cross presentation:HLA-C,HLA-E | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,HLA-E,NCR3 | Interferon alpha/beta signaling:HLA-C,HLA-E | TP53 Regulates Transcription of DNA Repair Genes:MDC1 | Class I MHC mediated antigen processing & presentation:HLA-C,HLA-E | G2/M Transition:TUBB | Mitotic G2-G2/M phases:TUBB | RNA Polymerase I Promoter Escape:ZNRD1 | Transcriptional Regulation by TP53:MDC1 | RNA Polymerase I Transcription Termination:ZNRD1 | RNA Polymerase I Transcription Initiation:ZNRD1 | Neutrophil degranulation:HLA-C,TUBB | tRNA Aminoacylation:VARS2 | RNA Polymerase I Promoter Clearance:ZNRD1 | RNA Polymerase I Transcription:ZNRD1 | Kawasaki disease:HLA-C,HLA-E,PRRC2A | lymphadenitis:HLA-C,HLA-E,PRRC2A | lymph node disease:HLA-C,HLA-E,PRRC2A | lymphatic system disease:HLA-C,HLA-E,PRRC2A | sarcoidosis:DDR1 | hypersensitivity reaction type IV disease:DDR1 | autoimmune disease of endocrine system:HLA-C | multiple sclerosis:HLA-C | endocrine system disease:HLA-C | demyelinating disease:HLA-C | Graves' disease:HLA-C | thyroid gland disease:HLA-C | intrahepatic cholestasis:HLA-E | hypersensitivity reaction type I disease:HLA-C | primary bacterial infectious disease:FLOT1 | hepatitis:HLA-C,HLA-E,NCR3 | hyperthyroidism:HLA-C | vitiligo:DDR1,HLA-C | spondylitis:HLA-C,HLA-E | ankylosing spondylitis:HLA-C,HLA-E | bacterial infectious disease:FLOT1 | spondyloarthropathy:HLA-C,HLA-E | vasculitis:DDR1,HLA-E | Behcet's disease:HLA-E | hepatitis C:HLA-C,HLA-E,NCR3 | autoimmune disease of the nervous system:HLA-E | arthropathy:HLA-C,HLA-E | tropical spastic paraparesis:HLA-C | parasitic infectious disease:NCR3,PRRC2A | malaria:NCR3,PRRC2A | pulmonary sarcoidosis:DDR1 | myasthenia gravis:HLA-E | neuromuscular junction disease:HLA-E | cholestasis:HLA-E | hepatitis B:HLA-C | upper respiratory tract disease:HLA-C | parasitic protozoa infectious disease:NCR3,PRRC2A | urinary system disease:DDR1 | multiple myeloma:IER3,NCR3 | myeloma:IER3,NCR3 | reproductive system disease:HLA-E,MSH5 | bone marrow cancer:IER3,NCR3 | bile duct disease:HLA-C,HLA-E | biliary tract disease:HLA-C,HLA-E | azoospermia:MSH5 | proteinuria:DDR1 | kidney disease:DDR1 | allergic rhinitis:HLA-C | neuromuscular disease:HLA-E | nasal cavity disease:HLA-C | nose disease:HLA-C | rhinitis:HLA-C | hematopoietic system disease:HLA-E | anemia:HLA-E | male reproductive system disease:MSH5 | male infertility:MSH5 | sickle cell anemia:HLA-E | Human immunodeficiency virus infectious disease:HLA-C | interstitial lung disease:DDR1 | sclerosing cholangitis:HLA-C | lower respiratory tract disease:DDR1 | ovarian disease:MSH5 | female reproductive system disease:MSH5 | neuropathy:HLA-E | infertility:HLA-E,MSH5 | cell type benign neoplasm:DDR1 | cholangitis:HLA-C | lung disease:DDR1 | spinal cord disease:HLA-C | nasopharynx carcinoma:DDR1 | pharynx cancer:DDR1 | endocrine organ benign neoplasm:DDR1 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1 | esophageal carcinoma:MDC1 | female reproductive organ cancer:DDR1 | adenoma:DDR1 | malignant ovarian surface epithelial-stromal neoplasm:DDR1 | ovary epithelial cancer:DDR1 | ovarian carcinoma:DDR1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-E | antigen processing and presentation of exogenous antigen:HLA-C,HLA-E | antigen processing and presentation of peptide antigen:HLA-C,HLA-E | antigen processing and presentation:HLA-C,HLA-E | interferon-gamma-mediated signaling pathway:HLA-C,HLA-E | cellular response to interferon-gamma:HLA-C,HLA-E | response to interferon-gamma:HLA-C,HLA-E | immune response-activating signal transduction:FLOT1,NCR3 | immune response-activating cell surface receptor signaling pathway:NCR3 | immune response-regulating cell surface receptor signaling pathway:NCR3 | positive regulation of cell-cell adhesion:FLOT1,HLA-E | positive regulation of leukocyte cell-cell adhesion:HLA-E | positive regulation of T cell activation:HLA-E | T cell activation:HLA-E | regulation of cell-cell adhesion:FLOT1,HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,HLA-E | regulation of leukocyte cell-cell adhesion:HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,HLA-E | positive regulation of cell adhesion:FLOT1,HLA-E | positive regulation of lymphocyte activation:HLA-E | positive regulation of cell activation:HLA-E | regulation of lymphocyte activation:HLA-E | regulation of T cell activation:HLA-E | regulation of leukocyte activation:HLA-E | leukocyte cell-cell adhesion:HLA-E | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,HLA-E | positive regulation of leukocyte activation:HLA-E | lymphocyte mediated immunity:HLA-E,NCR3,TUBB | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,NCR3 | adaptive immune response:HLA-E,NCR3 | natural killer cell mediated cytotoxicity:HLA-E,NCR3,TUBB | natural killer cell mediated immunity:HLA-E,NCR3,TUBB | T cell mediated cytotoxicity:HLA-E,NCR3 | response to type I interferon:HLA-C,HLA-E | type I interferon signaling pathway:HLA-C,HLA-E | cellular response to type I interferon:HLA-C,HLA-E | leukocyte mediated cytotoxicity:HLA-E,NCR3,TUBB | positive regulation of defense response:FLOT1,HLA-E,NCR3 | positive regulation of cytokine production:FLOT1,HLA-E | T cell mediated immunity:HLA-E,NCR3 | regulation of immune effector process:HLA-E,NCR3 | positive regulation of innate immune response:FLOT1,HLA-E,NCR3 | positive regulation of T cell proliferation:HLA-E | regulation of lymphocyte mediated immunity:HLA-E,NCR3 | regulation of innate immune response:FLOT1,HLA-E,NCR3 | regulation of T cell proliferation:HLA-E | cell killing:HLA-E,NCR3,TUBB | positive regulation of lymphocyte mediated immunity:HLA-E,NCR3 | regulation of lymphocyte proliferation:HLA-E | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,NCR3 | regulation of mononuclear cell proliferation:HLA-E | regulation of natural killer cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of adaptive immune response:HLA-E,NCR3 | regulation of natural killer cell mediated immunity:HLA-E,NCR3 | regulation of leukocyte proliferation:HLA-E | antigen processing and presentation via MHC class Ib:HLA-E | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:HLA-E,NCR3 | activation of innate immune response:FLOT1 | regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of leukocyte mediated immunity:HLA-E,NCR3 | T cell proliferation:HLA-E | antigen processing and presentation of endogenous antigen:HLA-E | negative regulation of natural killer cell mediated cytotoxicity:HLA-E | positive regulation of lymphocyte proliferation:HLA-E | positive regulation of mononuclear cell proliferation:HLA-E | positive regulation of heterotypic cell-cell adhesion:FLOT1 | negative regulation of natural killer cell mediated immunity:HLA-E | regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | negative regulation of immune effector process:HLA-E | positive regulation of leukocyte proliferation:HLA-E | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | negative regulation of leukocyte mediated cytotoxicity:HLA-E | positive regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | DNA-templated transcription, elongation:ZNRD1 | humoral immune response:HLA-E | innate immune response-activating signal transduction:FLOT1 | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,NCR3 | lymphocyte proliferation:HLA-E | mononuclear cell proliferation:HLA-E | regulation of immunoglobulin secretion:HLA-E | regulation of translational fidelity:VARS2 | regulation of cell killing:HLA-E,NCR3 | negative regulation of cell killing:HLA-E | RNA phosphodiester bond hydrolysis:ZNRD1 | regulation of adaptive immune response:HLA-E,NCR3 | response to tumor cell:NCR3 | leukocyte proliferation:HLA-E | regulation of protein stability:FLOT1 | nitric oxide biosynthetic process:DDAH2 | regulation of heterotypic cell-cell adhesion:FLOT1 | immunoglobulin secretion:HLA-E | positive regulation of natural killer cell mediated immunity:HLA-E,NCR3 | nitric oxide metabolic process:DDAH2 | natural killer cell activation:NCR3 | reactive nitrogen species metabolic process:DDAH2 | protein stabilization:FLOT1 | mRNA cleavage:ZNRD1 | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of reactive oxygen species biosynthetic process:DDAH2 | regulation of endocytosis:FLOT1 | positive regulation of endocytosis:FLOT1 | defense response to Gram-positive bacterium:HLA-E | response to endoplasmic reticulum stress:FLOT1 | positive regulation of immune effector process:HLA-E,NCR3 | transcription elongation from RNA polymerase I promoter:ZNRD1 | termination of RNA polymerase I transcription:ZNRD1 | pattern recognition receptor signaling pathway:FLOT1 | positive regulation of T cell mediated immunity:HLA-E,NCR3 | spindle assembly:TUBB | nucleic acid phosphodiester bond hydrolysis:ZNRD1 | transcription initiation from RNA polymerase I promoter:ZNRD1 | positive regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | reactive oxygen species biosynthetic process:DDAH2 | CD8-positive, alpha-beta T cell activation:HLA-E | negative regulation of immune system process:HLA-E | regulation of T cell mediated immunity:HLA-E,NCR3 | negative regulation of lymphocyte mediated immunity:HLA-E | receptor-mediated endocytosis:FLOT1 | DNA-templated transcription, termination:ZNRD1 | membrane assembly:FLOT1 | protein homooligomerization:FLOT1,LY6G5C | positive regulation of cell killing:HLA-E,NCR3 | negative regulation of innate immune response:HLA-E | synapsis:MSH5 | negative regulation of leukocyte mediated immunity:HLA-E | tRNA aminoacylation for protein translation:VARS2 | extracellular matrix organization:DDR1,FLOT1 | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1 | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of immune response:HLA-E | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | syncytium formation:FLOT1 | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1 | defense response to bacterium:HLA-E | regulation of mitotic cell cycle phase transition:TUBB | receptor metabolic process:FLOT1 | immunoglobulin production:HLA-E | reactive oxygen species metabolic process:DDAH2 | regulation of immunoglobulin production:HLA-E | regulation of receptor internalization:FLOT1 | homologous chromosome segregation:MSH5 | positive regulation of cell junction assembly:FLOT1 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:ZNRD1 | gland morphogenesis:DDR1 | spindle organization:TUBB | negative regulation of mitotic cell cycle:MDC1 | DNA-templated transcription, initiation:ZNRD1 | chromosome organization involved in meiotic cell cycle:MSH5 | regulation of cell cycle phase transition:TUBB | mammary gland duct morphogenesis:DDR1 | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | G2/M transition of mitotic cell cycle:TUBB | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:DDAH2 | regulation of muscle tissue development:FLOT1 | mammary gland development:DDR1 | negative regulation of defense response:HLA-E | smooth muscle cell migration:DDR1 | cell cycle G2/M phase transition:TUBB | regulation of G2/M transition of mitotic cell cycle:TUBB | 0.165708 | 0.0832895 | 1.3300029167111 | 0.0747742 | 0.130263 | 0.24722040100098 | 0.599756 | 0.0907674 | 10.3049791301853 | 0.604229 | 0.143358 | 4.54925527804747 | -0.0162544 | 0.0684309 | 0.0903001211665465 | -0.00705909 | 0.101807 | 0.0246876963601977 | 0.0239769 | 0.0501306 | 0.19897654984098 | 0.0434144 | 0.0492748 | 0.422185471560494 | -0.00779444 | 0.028747 | 0.104420561650803 | 0.260045 | 0.135009 | 1.26576439977332 | 0.194779 | 0.17532 | 0.57355055273583 | |||||||||||||||||||||||||||||||||||||||||
19:48370656:AAAAC:AAAACAAAC | 19 | 48370656 | 19q13.33 | AAAACAAAC | AAAAC | 0.939 | 0 | DHEAS ALL | 7659 | 10.2454276933836 | 0.825448361404883 | 0.00499714 | CTD-3098H1.2 (2.1 kb, near gene/Upstream gene/MODIFIER); SULT2A1 (3.1 kb, near gene/Downstream gene/MODIFIER); TPRX2P (5.9 kb); CRX (24 kb); TPRX1 (48 kb) | NA | CTD-3098H1.2 | Chemical carcinogenesis:SULT2A1 | Metabolism of xenobiotics by cytochrome P450:SULT2A1 | Bile secretion:SULT2A1 | Biological oxidations:SULT2A1 | Phase II - Conjugation of compounds:SULT2A1 | multiple myeloma:SELENOW | myeloma:SELENOW | bone marrow cancer:SELENOW | polycystic ovary syndrome:SULT2A1 | steroid catabolic process:SULT2A1 | steroid metabolic process:SULT2A1 | sulfur compound metabolic process:SULT2A1 | 0.0450255 | 0.022871 | 1.30870627730664 | 0.0292948 | 0.0208508 | 0.795177571540303 | 0.0651015 | 0.0454866 | 0.817111933650992 | 0.0964674 | 0.0250964 | 3.90389678649211 | 0.0444844 | 0.0274764 | 0.976011304936836 | 0.189642 | 0.0496046 | 3.84344782012591 | 8.75122E-4 | 0.0187907 | 0.0164373058197649 | -0.0376135 | 0.0216417 | 1.08387992848536 | 0.0696285 | 0.0350534 | 1.32441135999956 | 0.0886646 | 0.0135328 | 10.2454276933836 | 0.0485256 | 0.0169233 | 2.38312660891089 | 0.136244 | 0.0216639 | 9.49545710089017 | 0.00465121 | 0.0133939 | 0.137634236512457 | -0.0139592 | 0.0141366 | 0.490229098783659 | 0.0295759 | 0.0225851 | 0.720433429719988 | -0.0415646 | 0.0130298 | 2.84683172502841 | -0.0300707 | 0.0159595 | 1.22519627563361 | -0.0472676 | 0.0208987 | 1.62501533016432 | 0.00692576 | 0.00778957 | 0.427191107947214 | -0.0103434 | 0.0100901 | 0.51524901358327 | 0.0265236 | 0.0121559 | 1.53591602314002 | -0.00106128 | 0.0379443 | 0.00979927104427717 | -0.0497698 | 0.047781 | 0.526104474419033 | 0.0824946 | 0.0623168 | 0.730452033445715 | ||
rs140054334:31587042:C:T | 6 | 31587042 | 6p21.33 | T | C | 0.994 | 12 | OHP17 ALL | 2070 | 10.146365659756 | 0.0173294685990338 | PRRC2A (1.5 kb, near gene/Upstream gene/MODIFIER); AIF1 (2.2 kb, near gene/Downstream gene/MODIFIER); SNORA38 (3.8 kb, near gene/Upstream gene/MODIFIER); UQCRHP1 (7.9 kb); BAG6 (20 kb); NCR3 (26 kb); LST1 (30 kb); APOM (33 kb); LTB (37 kb); C6orf47 (39 kb); C6orf47-AS1 (39 kb); TNF (41 kb); GPANK1 (42 kb); LTA (45 kb); CSNK2B (46 kb) | 0.489 Plantar warts // 0.489 Response to angiotensin II receptor blocker therapy // 0.438 Blood protein levels | - | ABCF1 | ABHD16A | AGER | AIF1 | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | BAT4 | BRD2 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf25 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DOM3Z | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DOB | HLA-DPA1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-E | HLA-H | HLA-J | HLA-S | HLA-T | HLA-V | HLA-W | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | LY6G6C | LY6G6E | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PBX2 | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | PSMB8 | PSMB9 | PSORS1C1 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | STK19P | TAP2 | TAPBP | TCF19 | TNF | TNXA | TRIM10 | TRIM39 | TUBB | unnamed | VARS | VARS2 | VWA7 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | ZBTB12 | ZNRD1 | BTN3A2 | EXOC1 | FLOT1 | GABBR1 | HLA-A | HLA-DOB | HLA-DQA1 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-F | HLA-H | HLA-V | IER3 | NHP2 | PARP2 | PPP1R11 | PSMB9 | SSRP1 | TAP2 | TMEM154 | TUBB | ZAP70 | ZNF672 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L,TAP2,TNF | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Staphylococcus aureus infection:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Phagosome:ATP6V1G2,HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | Herpes simplex infection:CSNK2B,HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TAP2,TNF | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:ATP6V1G2,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,LTB,TNF | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Systemic lupus erythematosus:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Influenza A:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Epstein-Barr virus infection:CSNK2B,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TNF | Natural killer cell mediated cytotoxicity:HLA-C,HLA-E,NCR3,TNF | Endocytosis:HLA-C,HLA-E,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L,TNF | Human cytomegalovirus infection:ATF6B,HLA-C,HLA-E,TAP2,TNF | Kaposi sarcoma-associated herpesvirus infection:HLA-C,HLA-E | Viral carcinogenesis:ATF6B,HLA-C,HLA-E | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,HLA-E,TAP2,TNF | NF-kappa B signaling pathway:CSNK2B,LTA,LTB,TNF | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L,RNF5 | Cellular senescence:HLA-C,HLA-E | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:CSNK2B,HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:ATP6V1G2,HLA-C,HLA-E,TNF | Pertussis:TNF | TNF signaling pathway:ATF6B,LTA,TNF | Aminoacyl-tRNA biosynthesis:VARS2 | Type II diabetes mellitus:TNF | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C,HLA-E | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,HLA-E,TAP2 | ER-Phagosome pathway:HLA-C,HLA-E,TAP2 | Antigen processing-Cross presentation:HLA-C,HLA-E,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,HLA-E,NCR3 | Interferon alpha/beta signaling:HLA-C,HLA-E | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | TNFR2 non-canonical NF-kB pathway:LTA,LTB,TNF | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:LTA,LTB | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,HLA-E,TAP2 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Regulation of PTEN stability and activity:CSNK2B | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:RNF5 | ABC-family proteins mediated transport:ABCF1,RNF5 | RNA Polymerase I Promoter Escape:ZNRD1 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:CSNK2B | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Termination:ZNRD1 | RNA Polymerase I Transcription Initiation:ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:CSNK2B,HLA-C,HSPA1A,HSPA1B,NEU1 | ABC transporter disorders:RNF5 | Influenza Life Cycle:HSPA1A,HSPA1B | Transcriptional regulation of white adipocyte differentiation:TNF | tRNA Aminoacylation:VARS2 | Synthesis of PC:CSNK2B | Mitophagy:CSNK2B | Deadenylation-dependent mRNA decay:SKIV2L | Chaperonin-mediated protein folding:CSNK2B,SKIV2L | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | RNA Polymerase I Promoter Clearance:ZNRD1 | RNA Polymerase I Transcription:ZNRD1 | Kawasaki disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymphadenitis:ABHD16A,BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymph node disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | lymphatic system disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A,TNF | leprosy:HLA-DRB1,LTA,TNF | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA,TNF | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA,TNF | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:ABCF1,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,LTA,TAP2,TNF | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1,TNF | primary bacterial infectious disease:FLOT1,HLA-DRB1,LTA,TAP2,TNF | hepatitis:APOM,HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3,TNF | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2,TNF | vitiligo:DDR1,HLA-C,TNF | spondylitis:HLA-C,HLA-E,TNF | ankylosing spondylitis:HLA-C,HLA-E,TNF | rheumatic fever:HLA-DQA1,HLA-DRB1,TNF | bacterial infectious disease:FLOT1,HLA-DRB1,LTA,TAP2,TNF | aplastic anemia:HLA-DQA1,HLA-DRB1,TNF | urticaria:HLA-DRB1,TNF | spondyloarthropathy:HLA-C,HLA-E,TNF | vasculitis:DDR1,HLA-DRB1,HLA-E,TNF | hypothyroidism:HLA-DRB1,TNF | Behcet's disease:HLA-DRB1,HLA-E,TNF | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3,TNF | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | arthropathy:HLA-C,HLA-E,TNF | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A,TAP2,TNF | malaria:HLA-DRB1,LTA,NCR3,PRRC2A,TNF | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1,TNF | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1,LTA | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA,HLA-E,TNF | neuromuscular junction disease:HLA-DQA1,HLA-DRA,HLA-E,TNF | brucellosis:TAP2,TNF | duodenal ulcer:HSPA1A,LTA,TNF | cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1,TNF | upper respiratory tract disease:HLA-C,HSPA1A,TAP2,TNF | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A,TNF | urinary system disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | multiple myeloma:BAG6,IER3,LTA,NCR3,TNF | myeloma:BAG6,IER3,LTA,NCR3,TNF | reproductive system disease:HLA-DRB1,HLA-E,HSPA1A,LTA,MSH5,TNF | bone marrow cancer:BAG6,IER3,LTA,NCR3,TNF | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L,TNF | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | complex regional pain syndrome:TNF | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A,TNF | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1,TNF | type 1 diabetes mellitus:HLA-DQA1,LTA,TNF | blood coagulation disease:HLA-DRA,HLA-DRB1,LTA | allergic rhinitis:HLA-C,TAP2,TNF | hemorrhagic disease:HLA-DRA,HLA-DRB1,LTA | neuromuscular disease:HLA-DQA1,HLA-DRA,HLA-E,TNF | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2,TNF | nose disease:HLA-C,TAP2,TNF | rhinitis:HLA-C,TAP2,TNF | collagen disease:AIF1,HLA-DRB1,TAP2,TNF | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:ABCF1,HLA-DRB1,HSPA1B,LTA,TNF | nephritis:AIF1,HLA-DQA1,HLA-DRB1,TNF | periodontitis:TNF | celiac disease:HLA-DQA1,HLA-DRB1,TNF | peptic ulcer disease:HSPA1A,LTA,TNF | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA,TNF | gestational diabetes:TNF | esophageal varix:TNF | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1,HLA-E,TNF | rheumatic disease:AIF1,HLA-DRB1,TAP2,TNF | systemic scleroderma:AIF1,HLA-DRB1,TAP2,TNF | scleroderma:AIF1,HLA-DRB1,TAP2,TNF | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5,TNF | male infertility:HLA-DRB1,MSH5,TNF | silicosis:HLA-DRB1,TNF | integumentary system disease:HLA-DQA1,HLA-DRB1,TNF | polycystic ovary syndrome:TNF | sickle cell anemia:HLA-DRB1,HLA-E,TNF | periodontal disease:TNF | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2,TNF | alpha 1-antitrypsin deficiency:TNF | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1,TNF | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B,TNF | interstitial lung disease:DDR1,HLA-DRB1,TNF | bronchial disease:HSPA1A,HSPA1B,LTA,TAP2,TNF | acute pancreatitis:HSPA1B,LTA | acne:TNF | sebaceous gland disease:TNF | tuberculosis:HLA-DRB1,TNF | Vogt-Koyanagi-Harada disease:HLA-DRB1 | dengue hemorrhagic fever:LTA,TNF | autonomic nervous system disease:TNF | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1,TNF | aortic valve disease:TNF | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1,TNF | tooth disease:TNF | dengue disease:LTA,TNF | autoimmune disease of peripheral nervous system:HLA-DRB1,TNF | Guillain-Barre syndrome:HLA-DRB1,TNF | pancreas disease:ABCF1,HLA-DRB1,HSPA1B,LTA,TNF | open-angle glaucoma:HLA-DRB1,TAP2,TNF | varicose veins:TNF | influenza:HLA-DRB1,TNF | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1,TNF | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA,TAP2,TNF | ovarian disease:MSH5 | neutropenia:TNF | agranulocytosis:TNF | gastritis:HLA-DRB1,TNF | dermatomyositis:HLA-DRB1,TNF | essential hypertension:HSPA1A,HSPA1B,HSPA1L,LTA | female reproductive system disease:LTA,MSH5,TNF | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA,HLA-E,TNF | plasma protein metabolism disease:TNF | mouth disease:TNF | osteoporosis:TNF | Sjogren's syndrome:TNF | bone resorption disease:TNF | migraine:HLA-DRB1,LTA,TNF | infertility:HLA-E,MSH5,TNF | peripheral nervous system disease:HLA-DRB1,TNF | age related macular degeneration:TNF | degeneration of macula and posterior pole:TNF | autoimmune disease of urogenital tract:HLA-DRB1,TNF | primary biliary cirrhosis:HLA-DRB1,TNF | cell type benign neoplasm:DDR1,TNF | macular degeneration:TNF | stomach disease:HLA-DRB1,TNF | cholangitis:HLA-C,HLA-DRB1 | pulmonary hypertension:TNF | Crohn's disease:HSPA1B,LTA | osteosarcoma:BAG6,TNF | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA,TNF | spinal cord disease:HLA-C,HLA-DRB1 | heart valve disease:TNF | gallbladder carcinoma:TNF | pulmonary edema:HSPA1A | aortic valve stenosis:TNF | gallbladder cancer:TNF | myositis:HLA-DRB1,TNF | lipodystrophy:TNF | leukopenia:TNF | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,LTA | myopathy:HLA-DRB1,TNF | muscle tissue disease:HLA-DRB1,TNF | bone cancer:BAG6,TNF | nasopharynx carcinoma:DDR1,HSPA1B | axonal neuropathy:TNF | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:CSNK2B,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TNF | cardiomyopathy:TNF | muscular disease:HLA-DRB1,TNF | endocrine organ benign neoplasm:DDR1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:APOM,DDR1,HLA-DRB1,TNF | renal cell carcinoma:HLA-DRB1,TAP2 | muscular dystrophy:TNF | glaucoma:HLA-DRB1,TAP2,TNF | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1,TNF | retinal disease:HLA-DRB1,LTA,TAP2,TNF | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | vein disease:TNF | connective tissue cancer:BAG6,TNF | adenoma:DDR1 | primary open angle glaucoma:TAP2,TNF | severe combined immunodeficiency:HLA-DRB1,TNF | coronary artery disease:LTA,TNF | retinal degeneration:HLA-DRB1,TAP2,TNF | integumentary system cancer:LTA | skin cancer:LTA | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1,TNF | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1,TNF | combined T cell and B cell immunodeficiency:HLA-DRB1,TNF | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | cellular response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,HLA-E,TAP2 | regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,HLA-E,TAP2 | positive regulation of cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | positive regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,TNF | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,HLA-E,TAP2 | positive regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | adaptive immune response:HLA-E,LTA,NCR3,TAP2,TNF | humoral immune response mediated by circulating immunoglobulin:LTA,TNF | natural killer cell mediated cytotoxicity:HLA-E,NCR3 | natural killer cell mediated immunity:HLA-E,NCR3 | T cell mediated cytotoxicity:HLA-E,NCR3 | response to type I interferon:HLA-C,HLA-E | type I interferon signaling pathway:HLA-C,HLA-E | cellular response to type I interferon:HLA-C,HLA-E | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LTA,LTB,TNF | leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of humoral immune response:LTA,TNF | positive regulation of defense response:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA,NCR3,TNF | positive regulation of cytokine production:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA,LTB,TNF | T cell mediated immunity:HLA-E,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:HLA-E,LTA,NCR3,TNF | positive regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,NCR3 | positive regulation of T cell proliferation:AIF1,HLA-E | regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | NIK/NF-kappaB signaling:TNF | regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LTA,LTB,TNF | regulation of T cell proliferation:AIF1,HLA-E | cell killing:HLA-E,NCR3 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | positive regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3,TNF | regulation of lymphocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | regulation of mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of natural killer cell mediated cytotoxicity:HLA-E,NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | chronic inflammatory response:LTA,TNF | positive regulation of adaptive immune response:HLA-E,LTA,NCR3,TNF | regulation of natural killer cell mediated immunity:HLA-E,NCR3 | interferon-gamma production:LTA,TNF | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | lymph node development:LTA,LTB | immunoglobulin mediated immune response:LTA,TNF | regulation of leukocyte proliferation:AIF1,HLA-E,LST1 | B cell mediated immunity:LTA,TNF | mRNA catabolic process:HSPA1A,HSPA1B,SKIV2L | response to tumor necrosis factor:HSPA1A,HSPA1B,LTA,LTB,TNF | regulation of chronic inflammatory response:LTA,TNF | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:HLA-E,TAP2 | regulation of humoral immune response mediated by circulating immunoglobulin:LTA,TNF | positive regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | positive regulation of nitric oxide metabolic process:AIF1,DDAH2,TNF | regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3,TNF | activation of innate immune response:FLOT1,HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3,TNF | T cell proliferation:AIF1,HLA-E | antigen processing and presentation of endogenous antigen:HLA-E,TAP2 | negative regulation of natural killer cell mediated cytotoxicity:HLA-E | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | positive regulation of inflammatory response to antigenic stimulus:LTA,TNF | positive regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | microtubule nucleation:HSPA1A,HSPA1B | positive regulation of phagocytosis:TNF | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | positive regulation of lymphocyte proliferation:AIF1,HLA-E | positive regulation of mononuclear cell proliferation:AIF1,HLA-E | positive regulation of heterotypic cell-cell adhesion:FLOT1,TNF | negative regulation of natural killer cell mediated immunity:HLA-E | regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | negative regulation of immune effector process:HLA-E,TNF | ER-associated misfolded protein catabolic process:BAG6,RNF5 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B,SKIV2L | positive regulation of leukocyte proliferation:AIF1,HLA-E | positive regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | negative regulation of growth of symbiont in host:LTA,TNF | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L,RNF5 | negative regulation of leukocyte mediated cytotoxicity:HLA-E | positive regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of humoral immune response:LTA,TNF | regulation of growth of symbiont in host:LTA,TNF | negative regulation of growth of symbiont involved in interaction with host:LTA,TNF | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,TNF | DNA-templated transcription, elongation:ZNRD1 | humoral immune response:HLA-E,LTA,TNF | regulation of acute inflammatory response:TNF | regulation of inclusion body assembly:HSPA1A,HSPA1B | modulation of growth of symbiont involved in interaction with host:LTA,TNF | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:AIF1,DDAH2,TNF | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3,TNF | lymphocyte proliferation:AIF1,HLA-E,LST1 | negative regulation of phosphoprotein phosphatase activity:TNF | mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of immunoglobulin secretion:HLA-E,TNF | regulation of translational fidelity:VARS2 | positive regulation of interleukin-12 production:LTB | positive regulation of translational initiation:TNF | regulation of cell killing:HLA-E,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | negative regulation of cell killing:HLA-E | growth of symbiont in host:LTA,TNF | regulation of interleukin-8 production:HSPA1A,HSPA1B,TNF | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | steroid metabolic process:TNF | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | growth involved in symbiotic interaction:LTA,TNF | growth of symbiont involved in interaction with host:LTA,TNF | regulation of adaptive immune response:HLA-E,LTA,NCR3,TNF | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,TNF | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B,RNF5 | positive regulation of interferon-gamma production:LTA,TNF | positive regulation of translation:TNF | nitric oxide biosynthetic process:AIF1,DDAH2,TNF | interleukin-8 production:HSPA1A,HSPA1B,TNF | regulation of heterotypic cell-cell adhesion:FLOT1,TNF | immunoglobulin secretion:HLA-E,TNF | positive regulation of protein complex assembly:HSPA1A,HSPA1B,TNF | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B,TNF | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B,TNF | nucleocytoplasmic transport:TNF | positive regulation of natural killer cell mediated immunity:HLA-E,NCR3 | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | podosome assembly:TNF | nitric oxide metabolic process:AIF1,DDAH2,TNF | nuclear transport:TNF | cellular response to misfolded protein:BAG6,RNF5 | regulation of inflammatory response to antigenic stimulus:LTA,TNF | positive regulation of vascular smooth muscle cell proliferation:TNF | regulation of phagocytosis:TNF | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:AIF1,DDAH2,TNF | nuclear-transcribed mRNA catabolic process, exonucleolytic:SKIV2L | positive regulation of mononuclear cell migration:AIF1,TNF | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,RNF5 | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1,TNF | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6,RNF5 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of organelle assembly:HSPA1A,HSPA1B,RNF5,TNF | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:RNF5 | regulation of endocytosis:FLOT1,TNF | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:BAG6,RNF5 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1,TNF | negative regulation of multi-organism process:LTA,TNF | regulation of activin receptor signaling pathway:CSNK2B | negative regulation of protein dephosphorylation:TNF | defense response to Gram-positive bacterium:HLA-E,LTA,TNF | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A,RNF5 | positive regulation of immune effector process:HLA-E,LTA,NCR3,TNF | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:ZNRD1 | termination of RNA polymerase I transcription:ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:HLA-E,NCR3 | positive regulation of NIK/NF-kappaB signaling:TNF | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | positive regulation of cellular amide metabolic process:TNF | regulation of interleukin-12 production:LTB | nucleic acid phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:SKIV2L | transcription initiation from RNA polymerase I promoter:ZNRD1 | nuclear-transcribed mRNA catabolic process:SKIV2L | positive regulation of B cell mediated immunity:LTA,TNF | positive regulation of immunoglobulin mediated immune response:LTA,TNF | interleukin-12 production:LTB | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of mitotic spindle organization:HSPA1A,HSPA1B | reactive oxygen species biosynthetic process:AIF1,DDAH2,TNF | CD8-positive, alpha-beta T cell activation:HLA-E | negative regulation of immune system process:HLA-DOB,HLA-E,LST1,TNF | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | positive regulation of NF-kappaB import into nucleus:TNF | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | macroautophagy:ATP6V1G2,CSNK2B,RNF5 | regulation of T cell mediated immunity:HLA-E,NCR3 | negative regulation of lymphocyte mediated immunity:HLA-E | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:ZNRD1 | regulation of vascular smooth muscle cell proliferation:TNF | vascular smooth muscle cell proliferation:TNF | regulation of macroautophagy:ATP6V1G2,RNF5 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | regulation of interferon-gamma production:LTA,TNF | viral life cycle:HSPA1A,HSPA1B,TNF | regulation of osteoblast differentiation:TNF | negative regulation of osteoblast differentiation:TNF | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | vitamin D biosynthetic process:TNF | protein localization to nucleus:TNF | positive regulation of protein polymerization:HSPA1A,HSPA1B | steroid biosynthetic process:TNF | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | regulation of mononuclear cell migration:AIF1,TNF | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | inflammatory response to antigenic stimulus:LTA,TNF | positive regulation of catabolic process:BAG6,HSPA1A,TNF | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | microglial cell activation:AIF1 | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | response to salt stress:TNF | positive regulation of cell killing:HLA-E,NCR3 | endothelial cell development:TNF | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | negative regulation of innate immune response:HLA-E | phagocytosis:AIF1,TNF | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of heat generation:TNF | regulation of autophagy:ATP6V1G2,RNF5 | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:LTA,TNF | synapsis:BAG6,MSH5 | macrophage activation:AIF1 | protein folding:CSNK2B,HSPA1A,HSPA1B,HSPA1L | negative regulation of leukocyte mediated immunity:HLA-E | positive regulation of protein catabolic process:BAG6,HSPA1A,TNF | positive regulation of cellular catabolic process:BAG6,HSPA1A,TNF | acute inflammatory response:TNF | regulation of B cell mediated immunity:LTA,TNF | regulation of immunoglobulin mediated immune response:LTA,TNF | tRNA aminoacylation for protein translation:VARS2 | regulation of transcription factor import into nucleus:TNF | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:SKIV2L | extracellular matrix organization:DDR1,FLOT1,TNF | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1,TNF | membrane biogenesis:FLOT1 | lipoprotein metabolic process:APOM | extracellular structure organization:DDR1,FLOT1,TNF | heterotypic cell-cell adhesion:FLOT1,TNF | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B,LTA,TNF | negative regulation of immune response:HLA-E,TNF | transcription factor import into nucleus:TNF | regulation of lipid catabolic process:TNF | tRNA aminoacylation:VARS2 | regulation of binding:CSNK2B,FLOT1 | regulation of mRNA metabolic process:HSPA1A | regulation of NIK/NF-kappaB signaling:TNF | smooth muscle cell proliferation:AIF1,TNF | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | cellular response to amino acid stimulus:TNF | syncytium formation:FLOT1 | lipopolysaccharide-mediated signaling pathway:TNF | fat-soluble vitamin biosynthetic process:TNF | regulation of symbiosis, encompassing mutualism through parasitism:LTA,TNF | regulation of monooxygenase activity:DDAH2,TNF | positive regulation of cellular component biogenesis:FLOT1,HSPA1A,HSPA1B,TNF | regulation of cellular protein catabolic process:BAG6,HSPA1A | defense response to bacterium:HLA-E,LTA,TNF | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF | glial cell activation:AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1 | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1,TNF | immunoglobulin production:HLA-E,TNF | reactive oxygen species metabolic process:AIF1,DDAH2,TNF | regulation of immunoglobulin production:HLA-E,TNF | viral genome replication:TNF | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:RNF5 | cellular response to ammonium ion:AIF1 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | positive regulation of cytokine biosynthetic process:LTB,TNF | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6,RNF5,TNF | activin receptor signaling pathway:CSNK2B | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,RNF5 | negative regulation of autophagy:RNF5 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,TNF | endothelium development:CSNK2B,TNF | gland morphogenesis:DDR1,TNF | regulation of phosphoprotein phosphatase activity:TNF | regulation of protein complex assembly:HSPA1A,HSPA1B,TNF | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B,TNF | spindle organization:HSPA1A,HSPA1B | superoxide metabolic process:TNF | negative regulation of phosphatase activity:TNF | negative regulation of ossification:TNF | ruffle assembly:AIF1 | regulation of protein catabolic process:BAG6,HSPA1A,TNF | negative regulation of mitotic cell cycle:TNF | DNA-templated transcription, initiation:ZNRD1 | negative regulation of hydrolase activity:TNF | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | negative regulation of chemotaxis:AIF1 | regulation of cell cycle phase transition:AIF1 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B,TNF | mammary gland duct morphogenesis:DDR1 | phosphatidylcholine biosynthetic process:CSNK2B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | autophagy:ATP6V1G2,CSNK2B,RNF5 | process utilizing autophagic mechanism:ATP6V1G2,CSNK2B,RNF5 | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | regulation of autophagosome assembly:RNF5 | protein complex localization:TNF | receptor internalization:FLOT1 | regulation of translational initiation:TNF | regulation of reactive oxygen species metabolic process:AIF1,DDAH2,TNF | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6,RNF5 | regulation of muscle tissue development:FLOT1 | regulation of multi-organism process:LTA,TNF | heat generation:TNF | regulation of response to cytokine stimulus:HSPA1A,HSPA1B,TNF | negative regulation of fibroblast proliferation:LTA | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of leukocyte chemotaxis:AIF1 | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:AIF1,HSPA1A,HSPA1B,TNF | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of defense response:HLA-E | translational initiation:TNF | regulation of viral process:TNF | smooth muscle cell migration:AIF1,DDR1 | negative regulation of viral life cycle:TNF | negative regulation of leukocyte activation:LST1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:SKIV2L | 0.0598644 | 0.0644155 | 0.452449266223721 | 0.145387 | 0.0628917 | 1.67894244439683 | -0.034508 | 0.114428 | 0.117486276852324 | 0.45969 | 0.0701585 | 10.146365659756 | 0.387194 | 0.0823902 | 5.5415691510601 | 0.554731 | 0.125445 | 4.94649899761358 | 0.0341325 | 0.0528797 | 0.285090450257135 | -0.00233355 | 0.0654311 | 0.0125326088363142 | 0.0835055 | 0.0891414 | 0.45693447084231 | 0.0200528 | 0.0350857 | 0.245930834077431 | -0.0266351 | 0.0427587 | 0.272996657709381 | 0.0819382 | 0.0581122 | 0.799861146142619 | 0.062222 | 0.0351845 | 1.11358824463988 | -0.0302932 | 0.0359894 | 0.398002985937876 | 0.159076 | 0.059167 | 2.14415388372977 | 0.0364236 | 0.0332588 | 0.563125248709676 | 0.0778596 | 0.0396159 | 1.30651488151622 | -0.034004 | 0.0547931 | 0.271752572265911 | 0.00845536 | 0.0203044 | 0.169350393233187 | 0.0206717 | 0.0259517 | 0.370880027104683 | -0.00761927 | 0.0323486 | 0.0894860501357787 | 0.163462 | 0.105727 | 0.912772447794025 | 0.171745 | 0.141651 | 0.646735988682376 | 0.157198 | 0.158134 | 0.494123186977176 | ||
rs1802127:31729925:C:T | 6 | 31729925 | 6p21.33 | T | C | 0.994 | 0 | OHP17 ALL | 2070 | 9.95368046193252 | 0.0167768115942029 | MSH5 (0 kb, exon/Missense/MODERATE | 3'utr/3 prime UTR/MODIFIER | exon/Coding sequence/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | intron/NMD transcript/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); MSH5-SAPCD1 (0 kb, exon/Missense/MODERATE | 3'utr/3 prime UTR/MODIFIER | exon/Coding sequence/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | intron/NMD transcript/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); SAPCD1 (0.65 kb, near gene/Upstream gene/MODIFIER); SAPCD1-AS1 (2.2 kb, near gene/Downstream gene/MODIFIER); VWA7 (3.4 kb, near gene/Downstream gene/MODIFIER); RNU6-850P (5.1 kb); VARS (15 kb); CLIC1 (22 kb); DDAH2 (32 kb); LSM2 (35 kb); C6orf25 (35 kb); LY6G6C (40 kb); LY6G6F (44 kb); LY6G6D (44 kb); HSPA1L (47 kb); LY6G6E (48 kb) | 0.443 Plantar warts // 0.443 Response to angiotensin II receptor blocker therapy // 0.409 Blood protein levels | - | ABCF1 | ABHD16A | AIF1 | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DXO | EHMT2 | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG23 | HCG27 | HCG4B | HCG4P3 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-E | HLA-H | HLA-J | HLA-T | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | LY6G6E | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PBX2 | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | PSMB8 | PSMB9 | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | TCF19 | TNF | TRIM10 | TRIM39 | TUBB | unnamed | VARS | VARS2 | VWA7 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | ZBTB12 | ZNRD1 | BTN3A2 | FLOT1 | HLA-A | HLA-DOB | HLA-DQA1 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-F | HLA-H | HLA-V | IER3 | NHP2 | TAP2 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Staphylococcus aureus infection:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Phagosome:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Influenza A:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:ATF6B,HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:ATF6B,GTF2H4,HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L,LSM2 | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L,RNF5 | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C | TNF signaling pathway:ATF6B | Aminoacyl-tRNA biosynthesis:VARS,VARS2 | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,TAP2 | Antigen processing-Cross presentation:HLA-C,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:GTF2H4,HSPA1A,HSPA1B | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:GTF2H4 | HIV Infection:GTF2H4 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,TAP2 | HIV Transcription Elongation:GTF2H4 | Formation of HIV-1 elongation complex containing HIV-1 Tat:GTF2H4 | Tat-mediated elongation of the HIV-1 transcript:GTF2H4 | Formation of HIV elongation complex in the absence of HIV Tat:GTF2H4 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:RNF5 | Formation of RNA Pol II elongation complex :GTF2H4 | RNA Polymerase II Transcription Elongation:GTF2H4 | Formation of the Early Elongation Complex:GTF2H4 | Formation of the HIV-1 Early Elongation Complex:GTF2H4 | ABC-family proteins mediated transport:RNF5 | Post-translational modification: synthesis of GPI-anchored proteins:LY6G6C,LY6G6D | HIV Life Cycle:GTF2H4 | RNA Polymerase I Promoter Escape:GTF2H4,ZNRD1 | Transcription of the HIV genome:GTF2H4 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:GTF2H4 | RNA Polymerase I Transcription Termination:GTF2H4,ZNRD1 | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Initiation:GTF2H4,ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1 | ABC transporter disorders:RNF5 | Influenza Life Cycle:HSPA1A,HSPA1B | RNA Polymerase II Pre-transcription Events:GTF2H4 | Dual Incision in GG-NER:GTF2H4 | tRNA Aminoacylation:VARS,VARS2 | Formation of Incision Complex in GG-NER:GTF2H4 | Late Phase of HIV Life Cycle:GTF2H4 | Deadenylation-dependent mRNA decay:LSM2 | RNA Pol II CTD phosphorylation and interaction with CE during HIV infection:GTF2H4 | RNA Pol II CTD phosphorylation and interaction with CE:GTF2H4 | RNA Polymerase I Promoter Clearance:GTF2H4,ZNRD1 | RNA Polymerase I Transcription:GTF2H4,ZNRD1 | mRNA Capping:GTF2H4 | Kawasaki disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphadenitis:ABHD16A,BAG6,HLA-C,HLA-DRB1,PRRC2A | lymph node disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,PRRC2A | lymphatic system disease:ABHD16A,BAG6,HLA-C,HLA-DRB1,PRRC2A | leprosy:HLA-DRB1 | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1 | primary bacterial infectious disease:FLOT1,HLA-DRB1,TAP2 | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | vitiligo:DDR1,HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:FLOT1,HLA-DRB1,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:DDR1,HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TAP2 | malaria:HLA-DRB1,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:TAP2 | duodenal ulcer:HSPA1A | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A | urinary system disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | multiple myeloma:BAG6,IER3,NCR3 | myeloma:BAG6,IER3,NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:BAG6,IER3,NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:HLA-DRB1,HSPA1B | nephritis:HLA-DQA1,HLA-DRB1 | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:HLA-DRB1,TAP2 | systemic scleroderma:HLA-DRB1,TAP2 | scleroderma:HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:DDR1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | cell type benign neoplasm:DDR1 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:HSPA1B | osteosarcoma:BAG6 | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | gallbladder carcinoma:CLIC1 | pulmonary edema:HSPA1A | gallbladder cancer:CLIC1 | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B | myopathy:HLA-DRB1 | muscle tissue disease:HLA-DRB1 | bone cancer:BAG6 | nasopharynx carcinoma:DDR1,HSPA1B | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:HLA-DRB1 | endocrine organ benign neoplasm:DDR1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1 | retinal disease:HLA-DRB1,TAP2 | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1 | connective tissue cancer:BAG6 | adenoma:DDR1 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1 | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | cellular response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of cell-cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of cell adhesion:FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | lymphocyte mediated immunity:NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | adaptive immune response:NCR3,TAP2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | leukocyte mediated cytotoxicity:NCR3 | positive regulation of defense response:FLOT1,HSPA1A,HSPA1B,NCR3 | positive regulation of cytokine production:FLOT1,HSPA1A,HSPA1B | T cell mediated immunity:NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:NCR3 | positive regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | regulation of lymphocyte mediated immunity:NCR3 | regulation of innate immune response:FLOT1,HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:NCR3 | positive regulation of lymphocyte mediated immunity:NCR3 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | mRNA catabolic process:HSPA1A,HSPA1B,LSM2 | response to tumor necrosis factor:HSPA1A,HSPA1B | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:NCR3 | activation of innate immune response:FLOT1,HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of heterotypic cell-cell adhesion:FLOT1 | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | ER-associated misfolded protein catabolic process:BAG6,RNF5 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B,LSM2 | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L,RNF5 | positive regulation of T cell mediated cytotoxicity:NCR3 | C-terminal protein lipidation:LY6G6C,LY6G6D | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | DNA-templated transcription, elongation:GTF2H4,ZNRD1 | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of translational fidelity:VARS,VARS2 | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A,ZNRD1 | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3 | C-terminal protein amino acid modification:LY6G6C,LY6G6D | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B,RNF5 | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | regulation of heterotypic cell-cell adhesion:FLOT1 | positive regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:DDAH2 | cellular response to misfolded protein:BAG6,RNF5 | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:DDAH2 | nuclear-transcribed mRNA catabolic process, exonucleolytic:LSM2 | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,RNF5 | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6,RNF5 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B,RNF5 | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:DDAH2 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:RNF5 | regulation of endocytosis:FLOT1 | protein K63-linked ubiquitination:RNF5 | protein quality control for misfolded or incompletely synthesized proteins:BAG6,RNF5 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1 | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A,RNF5 | positive regulation of immune effector process:NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:GTF2H4,ZNRD1 | termination of RNA polymerase I transcription:GTF2H4,ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | positive regulation of T cell mediated immunity:NCR3 | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | nucleic acid phosphodiester bond hydrolysis:GTF2H4,HSPA1A,ZNRD1 | transcription initiation from RNA polymerase I promoter:GTF2H4,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:LSM2 | nuclear-transcribed mRNA catabolic process:LSM2 | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:HLA-DOB | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | post-translational protein modification:LY6G6C,LY6G6D | macroautophagy:RNF5 | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:GTF2H4,ZNRD1 | regulation of macroautophagy:RNF5 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C,LY6G6C,LY6G6D | viral life cycle:HSPA1A,HSPA1B | regulation of osteoblast differentiation:CLIC1 | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:BAG6,HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of autophagy:RNF5 | response to ammonium ion:LY6G6D | microtubule polymerization:HSPA1A,HSPA1B | synapsis:BAG6,MSH5 | protein lipidation:LY6G6C,LY6G6D | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:BAG6,HSPA1A | positive regulation of cellular catabolic process:BAG6,HSPA1A | tRNA aminoacylation for protein translation:VARS,VARS2 | extracellular matrix organization:DDR1,FLOT1 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | membrane biogenesis:FLOT1 | lipoprotein metabolic process:LY6G6C,LY6G6D | extracellular structure organization:DDR1,FLOT1 | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B | lipoprotein biosynthetic process:LY6G6C,LY6G6D | tRNA aminoacylation:VARS,VARS2 | regulation of binding:FLOT1 | transcription elongation from RNA polymerase II promoter:GTF2H4 | regulation of mRNA metabolic process:HSPA1A | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS,VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | syncytium formation:FLOT1 | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1,GTF2H4,HSPA1A,HSPA1B | regulation of cellular protein catabolic process:BAG6,HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1 | reactive oxygen species metabolic process:DDAH2 | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:RNF5 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | cellular response to ammonium ion:LY6G6D | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6,RNF5 | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | negative regulation of cellular catabolic process:BAG6,RNF5 | negative regulation of autophagy:RNF5 | cellular amino acid metabolic process:DDAH2,VARS,VARS2 | transcription from RNA polymerase I promoter:GTF2H4,ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | gland morphogenesis:DDR1 | regulation of protein complex assembly:GTF2H4,HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | regulation of protein catabolic process:BAG6,HSPA1A | platelet activation:CLIC1,MPIG6B | DNA-templated transcription, initiation:GTF2H4,ZNRD1 | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | transcription initiation from RNA polymerase II promoter:GTF2H4 | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | autophagy:RNF5 | process utilizing autophagic mechanism:RNF5 | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of striated muscle tissue development:FLOT1 | positive regulation of striated muscle cell differentiation:FLOT1 | regulation of autophagosome assembly:RNF5 | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:DDAH2 | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6,RNF5 | regulation of muscle tissue development:FLOT1 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | 7-methylguanosine mRNA capping:GTF2H4 | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | 7-methylguanosine RNA capping:GTF2H4 | RNA capping:GTF2H4 | smooth muscle cell migration:DDR1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:LSM2 | 0.0395676 | 0.065401 | 0.26340830829372 | 0.0700677 | 0.0667374 | 0.531726535474899 | -0.0468017 | 0.111983 | 0.170056516307536 | 0.461925 | 0.0712382 | 9.95368046193252 | 0.351527 | 0.0874806 | 4.20876984896075 | 0.571389 | 0.121161 | 5.5378326887033 | 0.0630267 | 0.0536698 | 0.619078182699392 | 0.0293486 | 0.0693191 | 0.172577735912056 | 0.0947348 | 0.0862356 | 0.564898135044162 | 0.0393082 | 0.0370251 | 0.540022814834054 | -0.0247878 | 0.0458 | 0.230358336996971 | 0.115547 | 0.0602275 | 1.25926555565994 | 0.050558 | 0.0368526 | 0.769308452432844 | -0.0487327 | 0.0385246 | 0.686385840421868 | 0.169001 | 0.059856 | 2.32322136841003 | 0.0331027 | 0.0353673 | 0.456815091186069 | -0.0103695 | 0.0567022 | 0.0680872229570737 | 0.00159973 | 0.0213557 | 0.0267395682169983 | 0.0231262 | 0.0277718 | 0.392543904454601 | -0.0225407 | 0.0333351 | 0.301966474928642 | 0.175797 | 0.106662 | 1.00228910829826 | 0.233452 | 0.150007 | 0.921231529809774 | 0.12215 | 0.150735 | 0.378808133774377 | |||||
6:30932655:C:G | 6 | 30932655 | 6p21.33 | G | C | 0.801 | 1 | OHP17 ALL | 2070 | 9.8156209193414 | 0.0102144927536232 | HCG21 (10 kb); DPCR1 (11 kb); MUC21 (19 kb); SFTA2 (33 kb); VARS2 (38 kb); MUC22 (46 kb) | 0.663 Plantar warts // 0.663 Response to angiotensin II receptor blocker therapy // 0.525 Blood protein levels | - | ABCF1 | ABHD16A | AIF1 | ATF6B | ATP6V1G2 | ATP6V1G2-DDX39B | BAG6 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DXO | FLOT1 | GPANK1 | GPSM3 | GTF2H4 | HCG22 | HCG27 | HCG4B | HCG4P3 | HCP5 | HLA-A | HLA-B | HLA-C | HLA-DOB | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB6 | HLA-E | HLA-H | HLA-J | HLA-T | HLA-W | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6E | MICA | MICB | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PBX2 | POU5F1 | PPP1R10 | PPP1R11 | PRRC2A | RDBP | RNF5 | RPP21 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | TCF19 | TNF | TRIM10 | TRIM39 | TUBB | unnamed | VARS | VARS2 | XXbac-BPG181B23.7 | XXbac-BPG248L24.12 | XXbac-BPG299F13.17 | ZNRD1 | BTN3A2 | C4A | C4B | C4B 2 | C6orf10 | DXO | HLA-DQA1 | HLA-DRB1 | HLA-DRB4 | HLA-DRB5 | HLA-F | HLA-V | IER3 | NHP2 | STK19 | TAP2 | TMEM154 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA | Allograft rejection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Graft-versus-host disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Antigen processing and presentation:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L | Autoimmune thyroid disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Viral myocarditis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Staphylococcus aureus infection:HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phagosome:ATP6V1G2,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Herpes simplex infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA | Intestinal immune network for IgA production:HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:ATP6V1G2,HLA-DQA1,HLA-DRA,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DQA1,HLA-DRA,HLA-DRB1 | Toxoplasmosis:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DQA1,HLA-DRA,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | Leishmaniasis:HLA-DQA1,HLA-DRA,HLA-DRB1 | Influenza A:DDX39B,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DQA1,HLA-DRA,HLA-DRB1 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA | Th1 and Th2 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DQA1,HLA-DRA,HLA-DRB1 | Natural killer cell mediated cytotoxicity:HLA-C,HLA-E,NCR3 | Endocytosis:HLA-C,HLA-E,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:ATF6B,HLA-C,HLA-E | Kaposi sarcoma-associated herpesvirus infection:HLA-C,HLA-E | Viral carcinogenesis:ATF6B,HLA-C,HLA-E | Spliceosome:DDX39B,HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,HLA-E | NF-kappa B signaling pathway:LTA | Protein processing in endoplasmic reticulum:ATF6B,HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-C,HLA-E | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:ATF6B,HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:ATP6V1G2,HLA-C,HLA-E | TNF signaling pathway:ATF6B,LTA | Aminoacyl-tRNA biosynthesis:VARS2 | Lysosome:NEU1 | Cortisol synthesis and secretion:ATF6B | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C,HLA-E | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,HLA-E | ER-Phagosome pathway:HLA-C,HLA-E | Antigen processing-Cross presentation:HLA-C,HLA-E | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,HLA-E,NCR3 | Interferon alpha/beta signaling:HLA-C,HLA-E | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | TNFR2 non-canonical NF-kB pathway:LTA | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:LTA | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,HLA-E | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | ABC-family proteins mediated transport:ABCF1 | RNA Polymerase I Promoter Escape:ZNRD1 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | RNA Polymerase I Transcription Termination:ZNRD1 | RNA Polymerase I Transcription Initiation:ZNRD1 | Diseases associated with glycosylation precursor biosynthesis:NEU1 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B,NEU1 | Influenza Life Cycle:HSPA1A,HSPA1B | tRNA Aminoacylation:VARS2 | C-type lectin receptors (CLRs):MUC21 | Deadenylation-dependent mRNA decay:SKIV2L | Chaperonin-mediated protein folding:SKIV2L | Association of TriC/CCT with target proteins during biosynthesis:SKIV2L | RNA Polymerase I Promoter Clearance:ZNRD1 | RNA Polymerase I Transcription:ZNRD1 | Kawasaki disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A | lymphadenitis:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A | lymph node disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A | lymphatic system disease:BAG6,HLA-C,HLA-DRB1,HLA-E,PRRC2A | leprosy:HLA-DRB1,LTA | sarcoidosis:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA | hypersensitivity reaction type IV disease:DDR1,HLA-DQA1,HLA-DRB1,HSPA1L,LTA | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1 | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:ABCF1,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,LTA | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1 | primary bacterial infectious disease:FLOT1,HLA-DRB1,LTA | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1 | vitiligo:DDR1,HLA-C | spondylitis:HLA-C,HLA-E | ankylosing spondylitis:HLA-C,HLA-E | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:FLOT1,HLA-DRB1,LTA | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C,HLA-E | vasculitis:DDR1,HLA-DRB1,HLA-E | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1,HLA-E | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E,LTA,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | arthropathy:HLA-C,HLA-E | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A | malaria:HLA-DRB1,LTA,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:DDR1,HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1,LTA | cystic echinococcosis:HLA-DRB1 | myasthenia gravis:HLA-DQA1,HLA-DRA,HLA-E | neuromuscular junction disease:HLA-DQA1,HLA-DRA,HLA-E | duodenal ulcer:HSPA1A,LTA | cholestasis:HLA-DQA1,HLA-DRB1,HLA-E | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1 | upper respiratory tract disease:HLA-C,HSPA1A | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,LTA,NCR3,PRRC2A | urinary system disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | multiple myeloma:BAG6,IER3,LTA,NCR3 | myeloma:BAG6,IER3,LTA,NCR3 | reproductive system disease:HLA-DRB1,HLA-E,HSPA1A,LTA,MSH5 | bone marrow cancer:BAG6,IER3,LTA,NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-E | azoospermia:HLA-DRB1,MSH5 | proteinuria:DDR1,HLA-DRB1 | kidney disease:AIF1,DDR1,HLA-DQA1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1,LTA | blood coagulation disease:HLA-DRA,HLA-DRB1,LTA | allergic rhinitis:HLA-C | hemorrhagic disease:HLA-DRA,HLA-DRB1,LTA | neuromuscular disease:HLA-DQA1,HLA-DRA,HLA-E | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C | nose disease:HLA-C | rhinitis:HLA-C | collagen disease:AIF1,HLA-DRB1 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:ABCF1,HLA-DRB1,HSPA1B,LTA | nephritis:AIF1,HLA-DQA1,HLA-DRB1 | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A,LTA | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LTA | echinococcosis:HLA-DRB1 | anemia:HLA-DQA1,HLA-DRB1,HLA-E | rheumatic disease:AIF1,HLA-DRB1 | systemic scleroderma:AIF1,HLA-DRB1 | scleroderma:AIF1,HLA-DRB1 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1,HLA-E | parasitic helminthiasis infectious disease:HLA-DRB1 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:DDR1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,LTA | acute pancreatitis:HSPA1B,LTA | tuberculosis:HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | dengue hemorrhagic fever:LTA | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | dengue disease:LTA | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:ABCF1,HLA-DRB1,HSPA1B,LTA | open-angle glaucoma:HLA-DRB1 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L,LTA | female reproductive system disease:LTA,MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA,HLA-E | migraine:HLA-DRB1,LTA | infertility:HLA-E,MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | cell type benign neoplasm:DDR1 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:HSPA1B,LTA | osteosarcoma:BAG6 | lung disease:DDR1,HLA-DRB1,HSPA1A,HSPA1B,LTA | spinal cord disease:HLA-C,HLA-DRB1 | pulmonary edema:HSPA1A | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,LTA | myopathy:HLA-DRB1 | muscle tissue disease:HLA-DRB1 | bone cancer:BAG6 | nasopharynx carcinoma:DDR1,HSPA1B | pharynx cancer:DDR1,HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:HLA-DRB1 | endocrine organ benign neoplasm:DDR1 | premature ovarian failure:MSH5 | liver cirrhosis:DDR1,HLA-DRB1 | renal cell carcinoma:HLA-DRB1 | glaucoma:HLA-DRB1 | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DRB1 | retinal disease:HLA-DRB1,LTA | female reproductive organ cancer:DDR1,HLA-DQA1,HLA-DRB1 | connective tissue cancer:BAG6 | adenoma:DDR1 | severe combined immunodeficiency:HLA-DRB1 | coronary artery disease:DDX39B,LTA | retinal degeneration:HLA-DRB1 | integumentary system cancer:LTA | skin cancer:LTA | malignant ovarian surface epithelial-stromal neoplasm:DDR1,HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:DDR1,HLA-DQA1,HLA-DRB1 | ovarian carcinoma:DDR1,HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of peptide antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | cellular response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:AIF1,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:BAG6,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,MUC21,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,MUC21,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:BAG6,HLA-DQA1,HLA-DRA,HLA-DRB1,MUC21,NCR3 | positive regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of cell-cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,MUC21 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,HLA-E | regulation of leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,HLA-E | positive regulation of cell adhesion:AIF1,FLOT1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | positive regulation of cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of lymphocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | regulation of T cell activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E,LST1 | leukocyte cell-cell adhesion:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,HLA-E | positive regulation of leukocyte activation:AIF1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-E | lymphocyte mediated immunity:HLA-E,LTA,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3 | adaptive immune response:HLA-E,LTA,NCR3 | humoral immune response mediated by circulating immunoglobulin:LTA | natural killer cell mediated cytotoxicity:HLA-E,NCR3 | natural killer cell mediated immunity:HLA-E,NCR3 | T cell mediated cytotoxicity:HLA-E,NCR3 | response to type I interferon:HLA-C,HLA-E | type I interferon signaling pathway:HLA-C,HLA-E | cellular response to type I interferon:HLA-C,HLA-E | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LTA | leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of humoral immune response:LTA | positive regulation of defense response:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA,MUC21,NCR3 | positive regulation of cytokine production:FLOT1,HLA-E,HSPA1A,HSPA1B,LTA | T cell mediated immunity:HLA-E,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:HLA-E,LTA,NCR3 | positive regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,MUC21,NCR3 | positive regulation of T cell proliferation:AIF1,HLA-E | regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3 | regulation of innate immune response:FLOT1,HLA-E,HSPA1A,HSPA1B,MUC21,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LTA | regulation of T cell proliferation:AIF1,HLA-E | cell killing:HLA-E,NCR3 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | positive regulation of lymphocyte mediated immunity:HLA-E,LTA,NCR3 | regulation of lymphocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3 | regulation of mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of natural killer cell mediated cytotoxicity:HLA-E,NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | chronic inflammatory response:LTA | positive regulation of adaptive immune response:HLA-E,LTA,NCR3 | regulation of natural killer cell mediated immunity:HLA-E,NCR3 | interferon-gamma production:LTA | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | lymph node development:LTA | immunoglobulin mediated immune response:LTA | regulation of leukocyte proliferation:AIF1,HLA-E,LST1 | B cell mediated immunity:LTA | mRNA catabolic process:HSPA1A,HSPA1B,SKIV2L | response to tumor necrosis factor:HSPA1A,HSPA1B,LTA | regulation of chronic inflammatory response:LTA | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:HLA-E | regulation of humoral immune response mediated by circulating immunoglobulin:LTA | positive regulation of nitric oxide biosynthetic process:AIF1,DDAH2 | positive regulation of nitric oxide metabolic process:AIF1,DDAH2 | regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3 | activation of innate immune response:FLOT1,HSPA1A,HSPA1B,MUC21 | regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of leukocyte mediated immunity:HLA-E,LTA,NCR3 | T cell proliferation:AIF1,HLA-E | antigen processing and presentation of endogenous antigen:HLA-E | negative regulation of natural killer cell mediated cytotoxicity:HLA-E | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | positive regulation of inflammatory response to antigenic stimulus:LTA | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of lymphocyte proliferation:AIF1,HLA-E | positive regulation of mononuclear cell proliferation:AIF1,HLA-E | positive regulation of heterotypic cell-cell adhesion:FLOT1 | negative regulation of natural killer cell mediated immunity:HLA-E | regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of DNA-templated transcription in response to stress:ATF6B,HSPA1A | negative regulation of immune effector process:HLA-E | ER-associated misfolded protein catabolic process:BAG6 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B,SKIV2L | positive regulation of leukocyte proliferation:AIF1,HLA-E | positive regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2 | negative regulation of growth of symbiont in host:LTA | immune response to tumor cell:NCR3 | response to topologically incorrect protein:ATF6B,BAG6,HSPA1A,HSPA1L | negative regulation of leukocyte mediated cytotoxicity:HLA-E | positive regulation of T cell mediated cytotoxicity:HLA-E,NCR3 | positive regulation of humoral immune response:LTA | regulation of growth of symbiont in host:LTA | negative regulation of growth of symbiont involved in interaction with host:LTA | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | DNA-templated transcription, elongation:DDX39B,ZNRD1 | humoral immune response:HLA-E,LTA | regulation of inclusion body assembly:HSPA1A,HSPA1B | modulation of growth of symbiont involved in interaction with host:LTA | innate immune response-activating signal transduction:FLOT1,HSPA1A,HSPA1B,MUC21 | regulation of nitric oxide biosynthetic process:AIF1,DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-E,LTA,NCR3 | lymphocyte proliferation:AIF1,HLA-E,LST1 | mononuclear cell proliferation:AIF1,HLA-E,LST1 | regulation of immunoglobulin secretion:HLA-E | regulation of translational fidelity:VARS2 | regulation of cell killing:HLA-E,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | negative regulation of cell killing:HLA-E | growth of symbiont in host:LTA | regulation of interleukin-8 production:HSPA1A,HSPA1B | RNA phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | growth involved in symbiotic interaction:LTA | growth of symbiont involved in interaction with host:LTA | regulation of adaptive immune response:HLA-E,LTA,NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AIF1,HLA-E,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of interferon-gamma production:LTA | positive regulation of translation:DDX39B | nitric oxide biosynthetic process:AIF1,DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | regulation of heterotypic cell-cell adhesion:FLOT1 | immunoglobulin secretion:HLA-E | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:DDX39B,HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | nucleocytoplasmic transport:DDX39B | positive regulation of natural killer cell mediated immunity:HLA-E,NCR3 | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | nitric oxide metabolic process:AIF1,DDAH2 | nuclear transport:DDX39B | cellular response to misfolded protein:BAG6 | positive regulation of vascular smooth muscle cell proliferation:DDX39B | regulation of inflammatory response to antigenic stimulus:LTA | natural killer cell activation:BAG6,NCR3 | reactive nitrogen species metabolic process:AIF1,DDAH2 | nuclear-transcribed mRNA catabolic process, exonucleolytic:SKIV2L | positive regulation of mononuclear cell migration:AIF1 | cellular response to topologically incorrect protein:ATF6B,BAG6,HSPA1A | protein stabilization:BAG6,FLOT1,HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1,DDX39B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | response to misfolded protein:BAG6 | mRNA cleavage:HSPA1A,ZNRD1 | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1,DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:ATF6B,HSPA1A | regulation of reactive oxygen species biosynthetic process:AIF1,DDAH2 | regulation of endocytosis:FLOT1 | protein quality control for misfolded or incompletely synthesized proteins:BAG6 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of endocytosis:FLOT1 | negative regulation of multi-organism process:LTA | defense response to Gram-positive bacterium:HLA-E,LTA | response to endoplasmic reticulum stress:ATF6B,BAG6,FLOT1,HSPA1A | positive regulation of immune effector process:HLA-E,LTA,NCR3 | stimulatory C-type lectin receptor signaling pathway:MUC21 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | transcription elongation from RNA polymerase I promoter:ZNRD1 | termination of RNA polymerase I transcription:ZNRD1 | pattern recognition receptor signaling pathway:FLOT1,HSPA1A,HSPA1B | innate immune response activating cell surface receptor signaling pathway:MUC21 | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:HLA-E,NCR3 | spindle assembly:HSPA1A,HSPA1B | ganglioside metabolic process:NEU1 | positive regulation of cellular amide metabolic process:DDX39B | nucleic acid phosphodiester bond hydrolysis:HSPA1A,RPP21,ZNRD1 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay:SKIV2L | transcription initiation from RNA polymerase I promoter:ZNRD1 | nuclear-transcribed mRNA catabolic process:SKIV2L | positive regulation of B cell mediated immunity:LTA | positive regulation of immunoglobulin mediated immune response:LTA | positive regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of leukocyte mediated cytotoxicity:HLA-E,NCR3 | regulation of mitotic spindle organization:HSPA1A,HSPA1B | reactive oxygen species biosynthetic process:AIF1,DDAH2 | CD8-positive, alpha-beta T cell activation:HLA-E | negative regulation of immune system process:HLA-E,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | macroautophagy:ATP6V1G2 | regulation of T cell mediated immunity:HLA-E,NCR3 | negative regulation of lymphocyte mediated immunity:HLA-E | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:FLOT1 | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | DNA-templated transcription, termination:DDX39B,ZNRD1 | regulation of vascular smooth muscle cell proliferation:DDX39B | vascular smooth muscle cell proliferation:DDX39B | regulation of macroautophagy:ATP6V1G2 | membrane assembly:FLOT1 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:FLOT1,LY6G5C | regulation of interferon-gamma production:LTA | protein export from nucleus:DDX39B | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:ATF6B | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:BAG6,HSPA1A | regulation of mononuclear cell migration:AIF1 | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | inflammatory response to antigenic stimulus:LTA | positive regulation of catabolic process:BAG6,HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:BAG6,HSPA1A | microglial cell activation:AIF1 | negative regulation of proteolysis involved in cellular protein catabolic process:BAG6 | positive regulation of cell killing:HLA-E,NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | negative regulation of innate immune response:HLA-E | phagocytosis:AIF1 | mRNA cleavage involved in mRNA processing:HSPA1A | regulation of autophagy:ATP6V1G2 | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:LTA | synapsis:BAG6,MSH5 | macrophage activation:AIF1 | protein folding:HSPA1A,HSPA1B,HSPA1L | negative regulation of leukocyte mediated immunity:HLA-E | positive regulation of protein catabolic process:BAG6,HSPA1A | positive regulation of cellular catabolic process:BAG6,HSPA1A | regulation of B cell mediated immunity:LTA | regulation of immunoglobulin mediated immune response:LTA | tRNA aminoacylation for protein translation:VARS2 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay:SKIV2L | extracellular matrix organization:DDR1,FLOT1 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1,DDX39B | membrane biogenesis:FLOT1 | extracellular structure organization:DDR1,FLOT1 | heterotypic cell-cell adhesion:FLOT1 | branching involved in mammary gland duct morphogenesis:DDR1 | negative regulation of growth:HSPA1A,HSPA1B,LTA | negative regulation of immune response:HLA-E | tRNA aminoacylation:VARS2 | regulation of binding:FLOT1 | regulation of mRNA metabolic process:HSPA1A | smooth muscle cell proliferation:AIF1,DDX39B | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | syncytium formation by plasma membrane fusion:FLOT1 | amino acid activation:VARS2 | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | nuclear export:DDX39B | syncytium formation:FLOT1 | regulation of symbiosis, encompassing mutualism through parasitism:LTA | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:FLOT1,HSPA1A,HSPA1B | regulation of cellular protein catabolic process:BAG6,HSPA1A | defense response to bacterium:HLA-E,LTA | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | glial cell activation:AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1 | protein glycosylation:MUC21 | macromolecule glycosylation:MUC21 | mitochondrial membrane organization:HSPA1A | receptor metabolic process:FLOT1 | immunoglobulin production:HLA-E | reactive oxygen species metabolic process:AIF1,DDAH2 | regulation of immunoglobulin production:HLA-E | regulation of receptor internalization:FLOT1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | cellular response to ammonium ion:AIF1 | homologous chromosome segregation:BAG6,MSH5 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:BAG6,HSPA1A | positive regulation of cell junction assembly:FLOT1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of cellular protein catabolic process:BAG6 | negative regulation of catabolic process:BAG6 | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | glycosylation:MUC21 | negative regulation of cellular catabolic process:BAG6 | cellular amino acid metabolic process:DDAH2,VARS2 | transcription from RNA polymerase I promoter:ZNRD1 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | gland morphogenesis:DDR1 | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | ruffle assembly:AIF1 | regulation of protein catabolic process:BAG6,HSPA1A | DNA-templated transcription, initiation:ZNRD1 | chromosome organization involved in meiotic cell cycle:BAG6,MSH5 | negative regulation of chemotaxis:AIF1 | regulation of cell cycle phase transition:AIF1 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | mammary gland duct morphogenesis:DDR1 | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | multi-organism transport:DDX39B | multi-organism localization:DDX39B | autophagy:ATP6V1G2 | process utilizing autophagic mechanism:ATP6V1G2 | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B | regulation of striated muscle tissue development:DDX39B,FLOT1 | positive regulation of striated muscle cell differentiation:DDX39B,FLOT1 | receptor internalization:FLOT1 | regulation of reactive oxygen species metabolic process:AIF1,DDAH2 | negative regulation of proteolysis:BAG6 | ubiquitin-dependent ERAD pathway:BAG6 | regulation of muscle tissue development:DDX39B,FLOT1 | regulation of multi-organism process:LTA | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | negative regulation of fibroblast proliferation:LTA | regulation of response to endoplasmic reticulum stress:BAG6,HSPA1A | regulation of leukocyte chemotaxis:AIF1 | mammary gland development:DDR1 | response to unfolded protein:ATF6B,HSPA1A,HSPA1L | response to oxidative stress:AIF1,HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of defense response:HLA-E | smooth muscle cell migration:AIF1,DDR1 | negative regulation of leukocyte activation:LST1 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:SKIV2L | 0.052087 | 0.0921601 | 0.242594100990003 | 0.0206009 | 0.13863 | 0.0545974011286864 | 0.646087 | 0.1004 | 9.8156209193414 | 0.668226 | 0.148298 | 5.11195087017326 | 0.138027 | 0.0755924 | 1.16746490268056 | 0.170097 | 0.105306 | 0.971843721129461 | 0.00837322 | 0.0542513 | 0.0568315746677749 | 0.056441 | 0.0535671 | 0.534553198935695 | 0.0112659 | 0.052176 | 0.081419800208806 | 0.0192917 | 0.0311732 | 0.270825487405279 | 0.268284 | 0.149941 | 1.13239169863366 | 0.214534 | 0.182383 | 0.619980614055836 | ||||||||||||||||||||||||||||||||||||||
rs148331983:32482155:A:AGTTTATCCATTTT | 6 | 32482155 | 6p21.32 | AGTTTATCCATTTT | A | 0.833 | 0 | OHP17 ALL | 2070 | 9.64398562210789 | 0.0191835700483092 | HLA-DRB5 (3 kb, near gene/Downstream gene/MODIFIER); RNU1-61P (36 kb); HLA-DRB6 (38 kb); HLA-DRB9 (41 kb) | NA | APOM | ATP6V1G2 | B3GALT4 | CLIC1 | DDAH2 | HLA-DMA | HLA-DOB | HLA-DPB1 | HLA-DQA1 | HLA-DRA | HLA-DRB1 | HSPA1L | LSM2 | LST1 | LTB | NEU1 | PSMB8 | PSMB9 | RNF5 | SKIV2L | TAP2 | ARHGAP24 | BTN3A2 | CLK3 | DEF8 | EEF1G | EXOC1 | GOLGA2 | HLA-C | HLA-G | HLA-H | KPNA2 | ME2 | RPL34 | SSRP1 | TINF2 | TMEM154 | VARS2 | XRCC6 | ZNF672 | Type I diabetes mellitus:HLA-DRB5 | Allograft rejection:HLA-DRB5 | Graft-versus-host disease:HLA-DRB5 | Antigen processing and presentation:HLA-DRB5 | Autoimmune thyroid disease:HLA-DRB5 | Viral myocarditis:HLA-DRB5 | Staphylococcus aureus infection:HLA-DRB5 | Asthma:HLA-DRB5 | Phagosome:HLA-DRB5 | Herpes simplex infection:HLA-DRB5 | Intestinal immune network for IgA production:HLA-DRB5 | Rheumatoid arthritis:HLA-DRB5 | Inflammatory bowel disease (IBD):HLA-DRB5 | Toxoplasmosis:HLA-DRB5 | Systemic lupus erythematosus:HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-DRB5 | Leishmaniasis:HLA-DRB5 | Influenza A:HLA-DRB5 | Hematopoietic cell lineage:HLA-DRB5 | Epstein-Barr virus infection:HLA-DRB5 | Human T-cell leukemia virus 1 infection:HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DRB5 | Th17 cell differentiation:HLA-DRB5 | Tuberculosis:HLA-DRB5 | Translocation of ZAP-70 to Immunological synapse:HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DRB5 | Interferon gamma signaling:HLA-DRB5 | PD-1 signaling:HLA-DRB5 | Generation of second messenger molecules:HLA-DRB5 | Downstream TCR signaling:HLA-DRB5 | Interferon Signaling:HLA-DRB5 | TCR signaling:HLA-DRB5 | MHC class II antigen presentation:HLA-DRB5 | Costimulation by the CD28 family:HLA-DRB5 | multiple sclerosis:HLA-DRB5 | demyelinating disease:HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen:HLA-DRB5 | antigen processing and presentation of exogenous antigen:HLA-DRB5 | antigen processing and presentation of peptide antigen:HLA-DRB5 | antigen processing and presentation:HLA-DRB5 | interferon-gamma-mediated signaling pathway:HLA-DRB5 | cellular response to interferon-gamma:HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DRB5 | response to interferon-gamma:HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DRB5 | T cell receptor signaling pathway:HLA-DRB5 | immune response-activating signal transduction:HLA-DRB5 | T cell costimulation:HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:HLA-DRB5 | lymphocyte costimulation:HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DRB5 | immune response-regulating cell surface receptor signaling pathway:HLA-DRB5 | positive regulation of cell-cell adhesion:HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:HLA-DRB5 | positive regulation of T cell activation:HLA-DRB5 | T cell activation:HLA-DRB5 | regulation of cell-cell adhesion:HLA-DRB5 | regulation of leukocyte cell-cell adhesion:HLA-DRB5 | positive regulation of cell adhesion:HLA-DRB5 | positive regulation of lymphocyte activation:HLA-DRB5 | positive regulation of cell activation:HLA-DRB5 | regulation of lymphocyte activation:HLA-DRB5 | regulation of T cell activation:HLA-DRB5 | regulation of leukocyte activation:HLA-DRB5 | leukocyte cell-cell adhesion:HLA-DRB5 | positive regulation of leukocyte activation:HLA-DRB5 | 0.153623 | 0.0667305 | 1.66904876478774 | 0.232317 | 0.0634046 | 3.58862781141311 | 0.0481243 | 0.120836 | 0.160875314140824 | 0.463987 | 0.0727977 | 9.64398562210789 | 0.363318 | 0.0834028 | 4.84670355064469 | 0.614717 | 0.1344 | 5.24765494964562 | 0.197264 | 0.0546724 | 3.50061262899355 | 0.269687 | 0.0657533 | 4.3615666558191 | 0.104971 | 0.0955719 | 0.564749852082608 | -0.0596622 | 0.0370759 | 0.968288645245407 | -0.058499 | 0.0440748 | 0.734191982313643 | -0.0552819 | 0.0636323 | 0.414570856693332 | 0.00277641 | 0.0370613 | 0.0267414157184767 | 0.00317891 | 0.0370822 | 0.0307313626750435 | 0.0422114 | 0.0643377 | 0.290929419165197 | 0.0641902 | 0.0349631 | 1.17804977656349 | 0.0776407 | 0.0409236 | 1.23807141020558 | 0.0310432 | 0.0592989 | 0.221397318058919 | 0.0339301 | 0.0213889 | 0.948226398204925 | 0.0427405 | 0.0267096 | 0.960367796808373 | 0.0230598 | 0.0352115 | 0.290276472149563 | 0.164128 | 0.109165 | 0.876559990924836 | 0.226518 | 0.145211 | 0.924380054071224 | 0.0704338 | 0.16491 | 0.174288990228294 | ||
rs9692804:144058625:G:A | novel1 | 8 | 144058625 | 8q24.3 | A | G | 0.916 | 192 | ANDRO ALL | 2070 | 9.58406725356153 | 0.426122946859903 | RP11-273G15.2 (4.5 kb, near gene/Downstream gene/MODIFIER); CDC42P3 (19 kb); LY6E (41 kb); CYP11B2 (59 kb) | 0.891 Diastolic blood pressure // 0.848 Estrone levels // 0.611 Plasma androstenedione levels in resected early stage-receptor positive breast cancer // 0.564 Mean arterial pressure // 0.53 Systolic blood pressure | C8orf31 | C8orf55 | C8ORF55 | CTD-2292P10.4 | GLI4 | GML | GRINA | JRK | LY6D | LY6E | LY6K | LYNX1 | LYPD2 | NAPRT1 | PSCA | PUF60 | RP11-273G15.2 | RP11-706C16.7 | RP13-582O9.5 | SLURP1 | THEM6 | TIGD5 | unnamed | ZFP41 | ZNF623 | Steroid hormone biosynthesis:CYP11B2 | Post-translational modification: synthesis of GPI-anchored proteins:LY6D,LY6E,LY6K,LYPD2 | Cytochrome P450 - arranged by substrate type:CYP11B2 | Endogenous sterols:CYP11B2 | Metabolism of steroid hormones:CYP11B2 | Metabolic disorders of biological oxidation enzymes:CYP11B2 | Phase I - Functionalization of compounds:CYP11B2 | Diseases of metabolism:CYP11B2 | Metabolism of steroids:CYP11B2 | Biological oxidations:CYP11B2 | endocrine system disease:CYP11B2 | glucocorticoid-remediable aldosteronism:CYP11B2 | hyperaldosteronism:CYP11B2 | adrenal gland hyperfunction:CYP11B2 | adrenal cortex disease:CYP11B2 | adrenal gland disease:CYP11B2 | hemorrhagic disease:CYP11B2 | blood coagulation disease:CYP11B2 | hematopoietic system disease:CYP11B2 | essential hypertension:CYP11B2 | cell type benign neoplasm:CYP11B2 | pulmonary edema:CYP11B2 | lower respiratory tract disease:CYP11B2 | myopathy:CYP11B2 | muscle tissue disease:CYP11B2 | adenoma:CYP11B2 | cardiomyopathy:CYP11B2 | muscular disease:CYP11B2 | lung disease:CYP11B2 | C-terminal protein lipidation:LY6D,LY6E,LY6K,LYPD2 | C-terminal protein amino acid modification:LY6D,LY6E,LY6K,LYPD2 | C21-steroid hormone biosynthetic process:CYP11B2 | protein lipidation:LY6D,LY6E,LY6K,LYPD2 | lipoprotein biosynthetic process:LY6D,LY6E,LY6K,LYPD2 | C21-steroid hormone metabolic process:CYP11B2 | lipoprotein metabolic process:LY6D,LY6E,LY6K,LYPD2 | hormone biosynthetic process:CYP11B2 | mineralocorticoid biosynthetic process:CYP11B2 | mineralocorticoid metabolic process:CYP11B2 | response to potassium ion:CYP11B2 | aldehyde biosynthetic process:CYP11B2 | glucocorticoid biosynthetic process:CYP11B2 | glucocorticoid metabolic process:CYP11B2 | post-translational protein modification:LY6D,LY6E,LY6K,LYPD2 | cellular hormone metabolic process:CYP11B2 | ketone biosynthetic process:CYP11B2 | sterol metabolic process:CYP11B2 | steroid biosynthetic process:CYP11B2 | hormone metabolic process:CYP11B2 | cellular aldehyde metabolic process:CYP11B2 | steroid metabolic process:CYP11B2 | cell recognition:LY6K | regulation of neurotransmitter receptor activity:LYNX1 | cellular response to metal ion:CYP11B2 | regulation of blood pressure:CYP11B2 | cellular response to inorganic substance:CYP11B2 | regulation of hormone levels:CYP11B2 | organic hydroxy compound metabolic process:CYP11B2 | organic hydroxy compound biosynthetic process:CYP11B2 | cellular ketone metabolic process:CYP11B2 | flagellated sperm motility:LY6K | sperm motility:LY6K | response to metal ion:CYP11B2 | potassium ion homeostasis:CYP11B2 | 0.00661663 | 0.0174315 | 0.152244161510012 | -0.00622137 | 0.0157352 | 0.15950183683204 | 0.0107541 | 0.0345226 | 0.121814970704674 | 0.0353407 | 0.0191628 | 1.18513936288971 | 0.0379296 | 0.0207157 | 1.17181589712575 | 0.0295586 | 0.0388503 | 0.349682761216518 | 0.0900147 | 0.014171 | 9.58406725356153 | 0.0817186 | 0.0161876 | 6.29529538177953 | 0.104987 | 0.0269745 | 3.9634589304165 | 0.0184343 | 0.0105957 | 1.08673359763719 | 0.017156 | 0.0131857 | 0.713943426913014 | 0.0183241 | 0.0170592 | 0.548586634771233 | 0.04795 | 0.0103869 | 5.40836561619459 | 0.0295342 | 0.0109851 | 2.14413996309399 | 0.0713493 | 0.0175761 | 4.30814348442708 | 0.008142 | 0.010151 | 0.374173286714289 | 0.0128722 | 0.0124512 | 0.521110428711954 | 0.00633055 | 0.0162311 | 0.157067655694199 | 0.00569258 | 0.00606496 | 0.458501881852253 | 0.0136557 | 0.00782111 | 1.09253489323414 | -0.005177 | 0.00951027 | 0.231957890233425 | -0.0202852 | 0.0287719 | 0.317971413235485 | 0.0154077 | 0.0359764 | 0.174882996957764 | -0.0851808 | 0.0478301 | 1.12278304618714 | ||
rs12591359:51539368:G:A | 15 | 51539368 | 15q21.2 | A | G | 1 | 0 | E2 ALL | 6798 | 9.47540527740602 | 0.407252132980288 | 1.54431 | RP11-108K3.1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP19A1 (0 kb, intron/Intron/MODIFIER | near gene/Upstream gene/MODIFIER); MIR4713 (4.9 kb, near gene/Downstream gene/MODIFIER); GLDN (94 kb) | 0.689 Hormone measurements // 0.689 Follicule stimulating hormone // 0.689 Total body bone mineral density // 0.683 Estradiol levels // 0.683 Estrone levels // 0.577 Endometrial cancer // 0.577 Endometrial endometrioid carcinoma // 0.558 Menarche (age at onset) // 0.421 Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer // 0.37 Thiazide-induced adverse metabolic effects in hypertensive patients | AP4E1 | CYP19A1 | DCAF13P3 | DMXL2 | GABPB1 | GABPB1-AS1 | GLDN | GNB5 | MAPK6 | MYO5C | RP11-108K3.1 | RP11-707P17.2 | SPPL2A | TMOD2 | TRPM7 | USP8 | BAZ1B | Steroid hormone biosynthesis:CYP19A1 | Endocytosis:USP8 | Kaposi sarcoma-associated herpesvirus infection:GNB5 | Human cytomegalovirus infection:GNB5 | Lysosome:AP4E1 | Cytochrome P450 - arranged by substrate type:CYP19A1 | Metabolism of steroid hormones:CYP19A1 | Phase I - Functionalization of compounds:CYP19A1 | Endogenous sterols:CYP19A1 | Metabolic disorders of biological oxidation enzymes:CYP19A1 | Biological oxidations:CYP19A1 | Chaperonin-mediated protein folding:GNB5 | endocrine system disease:CYP19A1 | hepatitis:GNB5 | hepatitis B:GNB5 | male reproductive system disease:CYP19A1 | male infertility:CYP19A1 | hyperandrogenism:CYP19A1 | gonadal disease:CYP19A1 | polycystic ovary syndrome:CYP19A1 | reproductive system disease:CYP19A1 | prostate disease:CYP19A1 | sex differentiation disease:CYP19A1 | essential hypertension:CYP19A1 | osteoporosis:CYP19A1 | bone resorption disease:CYP19A1 | cell type benign neoplasm:CYP19A1 | infertility:CYP19A1 | sporadic breast cancer:CYP19A1 | ovarian disease:CYP19A1 | female reproductive organ cancer:CYP19A1 | cerebral palsy:AP4E1 | tumor necrosis factor-mediated signaling pathway:SPPL2A | cellular response to tumor necrosis factor:SPPL2A | chronic inflammatory response:CYP19A1 | response to tumor necrosis factor:SPPL2A | regulation of chronic inflammatory response:CYP19A1 | cellular hormone metabolic process:CYP19A1 | steroid catabolic process:CYP19A1 | hormone biosynthetic process:CYP19A1 | steroid metabolic process:CYP19A1 | hormone metabolic process:CYP19A1 | mammary gland development:CYP19A1 | androgen metabolic process:CYP19A1 | actomyosin structure organization:TMOD2 | steroid biosynthetic process:CYP19A1 | regulation of tumor necrosis factor-mediated signaling pathway:SPPL2A | protein folding:GNB5 | estrogen biosynthetic process:CYP19A1 | ketone biosynthetic process:CYP19A1 | negative regulation of immune system process:CYP19A1 | protein deubiquitination:USP8 | negative regulation of chemotaxis:CYP19A1 | calcium ion transmembrane transport:GNB5 | protein modification by small protein removal:USP8 | lipid transport:CYP19A1,TNFAIP8L3 | regulation of leukocyte chemotaxis:CYP19A1 | lipid localization:CYP19A1,TNFAIP8L3 | -0.0355075 | 0.0170745 | 1.4237876901353 | -0.0141343 | 0.0154642 | 0.442640796220868 | -0.0582829 | 0.0337201 | 1.07618006809184 | -0.0234055 | 0.0187978 | 0.671155766591769 | -0.0150354 | 0.0203851 | 0.336388580526746 | -0.0406878 | 0.0378373 | 0.54884167374216 | -8.62552E-4 | 0.0140299 | 0.0218272465454274 | 0.0098695 | 0.0160596 | 0.268449106298683 | -0.0218881 | 0.0265488 | 0.38725639682939 | 0.0137584 | 0.0102645 | 0.744440472855493 | 0.0237404 | 0.0128059 | 1.19545986536167 | 0.00394694 | 0.0164716 | 0.0911800065718447 | 0.0186511 | 0.0100983 | 1.18873138702638 | 0.0287024 | 0.0106647 | 2.14774270036739 | 0.00332104 | 0.0170777 | 0.0727271845010768 | -0.0619644 | 0.0098641 | 9.47540527740602 | -0.0652903 | 0.0120497 | 7.22088207338473 | -0.0578597 | 0.0158551 | 3.58009709663937 | -0.00621471 | 0.00588163 | 0.536584848478778 | -0.00878137 | 0.00760965 | 0.604657878240273 | -0.00286467 | 0.00918949 | 0.121913291311831 | 0.00337329 | 0.0282566 | 0.0433581392144384 | -0.017996 | 0.0355324 | 0.212812373612576 | 0.0423025 | 0.0465158 | 0.439556521730679 | |
rs955783:22299075:A:T | 13 | 22299075 | 13q12.11 | T | A | 0.977 | 8 | DHEAS ALL | 7659 | 9.42280242516918 | 0.424924663794229 | 6.10673E-4 | FGF9 (20 kb); RN7SL766P (66 kb); RPS7P10 (96 kb); MICU2 (120 kb) | 0.384 Response to antipsychotic treatment | FGF9 | CCPG1 | CSNK1G2 | Regulation of actin cytoskeleton:FGF9 | endocrine system disease:FGF9 | gonadal dysgenesis:FGF9 | gonadal disease:FGF9 | organ growth:FGF9 | nucleocytoplasmic transport:FGF9 | nuclear transport:FGF9 | regulation of activin receptor signaling pathway:FGF9 | cellular response to fibroblast growth factor stimulus:FGF9 | lipid modification:FGF9 | response to fibroblast growth factor:FGF9 | protein localization to nucleus:FGF9 | regulation of cardiac muscle tissue growth:FGF9 | smoothened signaling pathway:FGF9 | regulation of heart growth:FGF9 | activin receptor signaling pathway:FGF9 | regulation of protein kinase B signaling:FGF9 | regulation of cardiac muscle tissue development:FGF9 | cardiac muscle tissue growth:FGF9 | regulation of striated muscle tissue development:FGF9 | regulation of muscle tissue development:FGF9 | heart growth:FGF9 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:FGF9 | regulation of organ growth:FGF9 | -0.0243096 | 0.0171869 | 0.803028383364843 | -0.0135138 | 0.0152823 | 0.423998615374119 | -0.0280994 | 0.03445 | 0.382269106396673 | -0.0109186 | 0.0189165 | 0.248824091716943 | -0.0130748 | 0.0201459 | 0.286975922873048 | -0.00942614 | 0.0394679 | 0.0908153121926686 | 0.00206643 | 0.0141142 | 0.0537374117745959 | -0.0053451 | 0.015872 | 0.132916888433155 | 0.0146686 | 0.0276792 | 0.22452717925859 | 0.0636697 | 0.0101661 | 9.42280242516918 | 0.0567802 | 0.0126579 | 5.13873688389351 | 0.0717924 | 0.0163482 | 4.94846932348714 | 0.0123787 | 0.0100554 | 0.660942285431562 | -0.0137718 | 0.0105712 | 0.715224223747781 | 0.0424669 | 0.0172117 | 1.8660652976573 | -0.0046352 | 0.00975701 | 0.19740276407023 | 0.00348958 | 0.0119807 | 0.113031813453063 | -0.0146608 | 0.0156378 | 0.457808433350214 | 0.00721203 | 0.00584653 | 0.662804390545634 | -0.00306414 | 0.00753712 | 0.164724266850492 | 0.0192638 | 0.00916418 | 1.44920071106116 | -0.00395636 | 0.0284262 | 0.0509409639978167 | 0.0194544 | 0.0351498 | 0.23654579980214 | -0.0500826 | 0.0483675 | 0.521691849377678 | ||
rs12674916:143957958:G:A | 8 | 143957958 | 8q24.3 | A | G | 0.823 | 1 | ANDRO ALL | 2070 | 9.380426705214 | 0.639504106280193 | GML (0 kb, intron/Intron/MODIFIER); CYP11B1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); ZNHIT1P1 (18 kb); CYP11B2 (34 kb) | 0.518 Systolic blood pressure // 0.48 Estrone levels // 0.419 Diastolic blood pressure // 0.403 Plasma androstenedione levels in resected early stage-receptor positive breast cancer // 0.326 Mean arterial pressure | C8orf55 | C8ORF55 | CTD-2292P10.4 | EEF1D | GML | JRK | LY6D | LY6E | LY6K | LYNX1 | LYPD2 | NAPRT1 | PSCA | RP11-273G15.2 | RP11-706C16.7 | RP13-582O9.5 | SLURP1 | THEM6 | TIGD5 | unnamed | ZFP41 | ZNF623 | Steroid hormone biosynthesis:CYP11B1,CYP11B2 | Cortisol synthesis and secretion:CYP11B1 | Post-translational modification: synthesis of GPI-anchored proteins:LY6D,LY6E,LYPD2 | Cytochrome P450 - arranged by substrate type:CYP11B1,CYP11B2 | Endogenous sterols:CYP11B1,CYP11B2 | Metabolism of steroid hormones:CYP11B1,CYP11B2 | Metabolic disorders of biological oxidation enzymes:CYP11B1,CYP11B2 | Phase I - Functionalization of compounds:CYP11B1,CYP11B2 | Diseases of metabolism:CYP11B1,CYP11B2 | Metabolism of steroids:CYP11B1,CYP11B2 | Biological oxidations:CYP11B1,CYP11B2 | endocrine system disease:CYP11B1,CYP11B2 | glucocorticoid-remediable aldosteronism:CYP11B1,CYP11B2 | hyperaldosteronism:CYP11B1,CYP11B2 | adrenal gland hyperfunction:CYP11B1,CYP11B2 | adrenal cortex disease:CYP11B1,CYP11B2 | adrenal gland disease:CYP11B1,CYP11B2 | hemorrhagic disease:CYP11B2 | blood coagulation disease:CYP11B2 | hyperandrogenism:CYP11B1 | polycystic ovary syndrome:CYP11B1 | hematopoietic system disease:CYP11B2 | sex differentiation disease:CYP11B1 | essential hypertension:CYP11B2 | gonadal disease:CYP11B1 | cell type benign neoplasm:CYP11B1,CYP11B2 | pulmonary edema:CYP11B2 | lower respiratory tract disease:CYP11B2 | myopathy:CYP11B2 | muscle tissue disease:CYP11B2 | adenoma:CYP11B1,CYP11B2 | cardiomyopathy:CYP11B2 | muscular disease:CYP11B2 | lung disease:CYP11B2 | C-terminal protein lipidation:LY6D,LY6E,LYPD2 | C-terminal protein amino acid modification:LY6D,LY6E,LYPD2 | C21-steroid hormone biosynthetic process:CYP11B1,CYP11B2 | protein lipidation:LY6D,LY6E,LYPD2 | lipoprotein biosynthetic process:LY6D,LY6E,LYPD2 | C21-steroid hormone metabolic process:CYP11B1,CYP11B2 | lipoprotein metabolic process:LY6D,LY6E,LYPD2 | hormone biosynthetic process:CYP11B1,CYP11B2 | mineralocorticoid biosynthetic process:CYP11B1,CYP11B2 | mineralocorticoid metabolic process:CYP11B1,CYP11B2 | response to potassium ion:CYP11B1,CYP11B2 | aldehyde biosynthetic process:CYP11B1,CYP11B2 | glucocorticoid biosynthetic process:CYP11B1,CYP11B2 | glucocorticoid metabolic process:CYP11B1,CYP11B2 | post-translational protein modification:LY6D,LY6E,LYPD2 | cellular hormone metabolic process:CYP11B1,CYP11B2 | ketone biosynthetic process:CYP11B1,CYP11B2 | sterol metabolic process:CYP11B1,CYP11B2 | steroid biosynthetic process:CYP11B1,CYP11B2 | hormone metabolic process:CYP11B1,CYP11B2 | cellular aldehyde metabolic process:CYP11B1,CYP11B2 | steroid metabolic process:CYP11B1,CYP11B2 | regulation of neurotransmitter receptor activity:LYNX1 | cellular response to metal ion:CYP11B1,CYP11B2 | regulation of blood pressure:CYP11B1,CYP11B2 | cellular response to inorganic substance:CYP11B1,CYP11B2 | regulation of hormone levels:CYP11B1,CYP11B2 | organic hydroxy compound metabolic process:CYP11B1,CYP11B2 | organic hydroxy compound biosynthetic process:CYP11B1,CYP11B2 | regulation of G1/S transition of mitotic cell cycle:GML | cellular ketone metabolic process:CYP11B1,CYP11B2 | regulation of cell cycle G1/S phase transition:GML | response to metal ion:CYP11B1,CYP11B2 | G1/S transition of mitotic cell cycle:GML | positive regulation of cell cycle process:GML | cell cycle G1/S phase transition:GML | potassium ion homeostasis:CYP11B2 | positive regulation of cell cycle:GML | -0.0121514 | 0.0192014 | 0.278264383289129 | 0.017393 | 0.0174108 | 0.497594731859991 | -0.0203699 | 0.0375728 | 0.230830269023947 | -0.0312681 | 0.021116 | 0.857554216922716 | -0.0116912 | 0.022955 | 0.214230397571827 | -0.065045 | 0.0423961 | 0.901626278173662 | -0.0980283 | 0.0156142 | 9.380426705214 | -0.0809222 | 0.0179506 | 5.14829413044113 | -0.12829 | 0.029394 | 4.83441146199329 | -0.0248257 | 0.0114668 | 1.51731789103045 | -0.0271014 | 0.0143397 | 1.23089308424801 | -0.0205249 | 0.0183516 | 0.579408962110476 | -0.0395923 | 0.0112948 | 3.34104468144179 | -0.0195296 | 0.0119684 | 0.988302711885857 | -0.0709728 | 0.0190092 | 3.72410383620463 | -0.0133756 | 0.010979 | 0.651473177667824 | -0.0240831 | 0.0174555 | 0.775510964707157 | -0.00934606 | 0.006579 | 0.808448388426543 | -0.0135709 | 0.0085303 | 0.952211294364931 | -0.00322325 | 0.0102501 | 0.123105833731748 | 0.0378587 | 0.0316427 | 0.63513769989964 | 0.00420385 | 0.0398207 | 0.0381329745006743 | 0.0962826 | 0.0520295 | 1.18930788406243 | ||||||
rs35894069:7395176:G:A | 17 | 7395176 | 17p13.1 | A | G | 0.972 | 1 | TESTO MEN | 4291 | 9.3444812436794 | 0.347078186902819 | 0.202956 | POLR2A (0 kb, intron/Intron/MODIFIER); ZBTB4 (7.6 kb); SLC35G6 (8.8 kb); CHRNB1 (34 kb); FGF11 (47 kb) | 0.506 Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.506 Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.506 Systolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.506 Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.498 Blood protein levels // 0.469 Chin dimples // 0.402 Testosterone levels // 0.402 Sex hormone-binding globulin levels // 0.318 Protein quantitative trait loci // 0.316 Myopia // 0.309 IgA nephropathy | - | AC113189.5 | ACAP1 | ASGR2 | ATP1B2 | C17orf61 | C17orf61-PLSCR3 | C17orf74 | C17orf81 | CD68 | CHRNB1 | CTC1 | CTDNEP1 | CYB5D1 | EIF4A1 | EIF5A | FGF11 | FXR2 | KCTD11 | LSMD1 | MPDU1 | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SENP3-EIF4A1 | SHBG | SLC2A4 | SLC35G6 | SNORA48 | SNORA67 | SOX15 | SPEM1 | TMEM102 | TMEM256-PLSCR3 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | YBX2 | ZBTB4 | EIF4A1P2 | EIF5AL1 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Endocytosis:ACAP1 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | RNA transport:EIF4A1 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | positive regulation of cell cycle:SOX15 | regulation of lymphocyte mediated immunity:TNFSF13 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13 | negative regulation of translation:POLR2A | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:POLR2A | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | aging:EIF5A | protein export from nucleus:EIF5A | mRNA catabolic process:EIF4A1,TNFSF13 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of apoptotic signaling pathway:TNFSF12 | RNA catabolic process:EIF4A1,TNFSF13 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | regulation of striated muscle tissue development:SOX15 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | DNA-templated transcription, termination:POLR2A | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | -0.0173667 | 0.0180326 | 0.47414699094558 | -0.0106449 | 0.015998 | 0.295922443895141 | 0.0381522 | 0.0198259 | 1.26402365170572 | 0.0433232 | 0.0210572 | 1.39970247272742 | 0.0268297 | 0.0415469 | 0.285135666151872 | 0.00491867 | 0.0148046 | 0.130919722854916 | 0.0177949 | 0.0166069 | 0.546496665442621 | -0.0218034 | 0.0291389 | 0.342414516162694 | -0.0264547 | 0.0106104 | 1.89767951379817 | -0.0207635 | 0.0133517 | 0.921112001709916 | -0.0315964 | 0.0168472 | 1.2166110215823 | 0.0369003 | 0.0104814 | 3.36586748082077 | 0.0690591 | 0.0110764 | 9.3444812436794 | -0.00648375 | 0.0178375 | 0.144942034868861 | 0.0347118 | 0.0101914 | 3.18095513173087 | 0.0465938 | 0.0125842 | 3.67076895430703 | 0.0154651 | 0.0162225 | 0.467970899480701 | 0.0073126 | 0.00609678 | 0.637585389063621 | 0.00604401 | 0.0079271 | 0.350867729456117 | 0.00919961 | 0.0094561 | 0.48067744638028 | -0.0248121 | 0.0297379 | 0.393426254949971 | -0.0491852 | 0.0365776 | 0.747239175401646 | 0.0268617 | 0.0510799 | 0.222467335760577 | ||||
6:119191587:GTT:GT | 6 | 119191587 | 6q22.31 | GT | GTT | 0.975 | 0 | DHEAS ALL | 7659 | 9.17387982561895 | 0.814625408016712 | 0.109935 | MCM9 (0 kb); ASF1A (24 kb); FAM184A (89 kb); CEP85L (160 kb) | NA | ASF1A | BRD7P3 | CEP85L | FAM184A | MCM9 | MCMDC1 | PLN | RP11-210H10 A.1 | RP11-351A11.1 | PENK | Formation of Senescence-Associated Heterochromatin Foci (SAHF):ASF1A | DNA replication initiation:MCM9 | 0.0223069 | 0.0222647 | 0.49961119194588 | -0.00866958 | 0.0203701 | 0.173623888511275 | 0.0291975 | 0.0428486 | 0.304858186818391 | 0.00900082 | 0.0245005 | 0.146679679295893 | -0.0302295 | 0.0268386 | 0.584660996422004 | 0.0636975 | 0.0485154 | 0.72209066473828 | 0.0148314 | 0.018277 | 0.379671315140859 | -0.0091375 | 0.0211509 | 0.176656861469541 | 0.0465409 | 0.0340261 | 0.764954089934576 | 0.0805662 | 0.0130514 | 9.17387982561895 | 0.0850345 | 0.0165602 | 6.54922605142855 | 0.0755672 | 0.0205446 | 3.62915396176402 | -0.0294311 | 0.0138517 | 1.47353407185527 | 0.0672077 | 0.0214433 | 2.76366683433243 | -0.0148136 | 0.0125846 | 0.621336878820684 | -0.0256191 | 0.0156136 | 0.996393004372191 | 0.00654547 | 0.0198135 | 0.130104434711387 | 0.00377463 | 0.00751083 | 0.21093073091006 | 0.0101568 | 0.00989422 | 0.516217350113703 | -0.00392512 | 0.011487 | 0.13514731340598 | 0.0259084 | 0.0367357 | 0.318100581654691 | 0.07042 | 0.0465468 | 0.884219797201293 | -0.043836 | 0.0597411 | 0.334097393739959 | ||||||
rs200943612:48412454:T:C | 19 | 48412454 | 19q13.33 | C | T | 0.832 | 3 | DHEAS WOMEN | 3358 | 8.88165920461644 | 0.776021441334128 | 0.0570693 | SULT2A1 (23 kb); TPRX2P (48 kb); BSPH1 (59 kb); CRX (66 kb) | 0.385 Dehydroepiandrosterone sulphate levels // 0.385 Sex hormone levels | CABP5 | CTD-3098H1.2 | GLTSCR2 | PRR24 | SULT2A1 | Chemical carcinogenesis:SULT2A1 | Metabolism of xenobiotics by cytochrome P450:SULT2A1 | Bile secretion:SULT2A1 | Biological oxidations:SULT2A1 | Phase II - Conjugation of compounds:SULT2A1 | polycystic ovary syndrome:SULT2A1 | steroid catabolic process:SULT2A1 | steroid metabolic process:SULT2A1 | sulfur compound metabolic process:SULT2A1 | sperm capacitation:BSPH1,ELSPBP1 | 0.0148578 | 0.0222111 | 0.29790393012952 | -5.37837E-4 | 0.0199054 | 0.00946225014205344 | 0.0159356 | 0.0449917 | 0.140743384089867 | 0.0583043 | 0.0244053 | 1.76997280443069 | 0.00191759 | 0.0262368 | 0.026065754597507 | 0.166112 | 0.0497377 | 3.05431579835235 | -0.00175379 | 0.0182334 | 0.0346181253167756 | -0.0506785 | 0.0206225 | 1.85023605106541 | 0.0917462 | 0.0349913 | 2.04914562312922 | 0.0755373 | 0.0132757 | 7.89581003135353 | 0.0284595 | 0.0167707 | 1.04720416782602 | 0.127251 | 0.0209785 | 8.88165920461644 | 3.93494E-4 | 0.0130989 | 0.0105346085276456 | -0.0314161 | 0.0139618 | 1.61189702145079 | 0.0401502 | 0.0220662 | 1.1622234923818 | -0.0221454 | 0.0128536 | 1.0710570151723 | -0.0191388 | 0.0158981 | 0.640823096164347 | 0.0141446 | 0.00762793 | 1.19590215829562 | 8.86501E-4 | 0.00994793 | 0.0319884934006213 | 0.0284398 | 0.0117938 | 1.79885150531213 | 0.0118254 | 0.0368505 | 0.12591380815575 | -0.00103106 | 0.0457372 | 0.00788055169469006 | 0.0364131 | 0.0622043 | 0.252987709207197 | |||||
rs150507409:98983703:G:A | 7 | 98983703 | 7q22.1 | A | G | 0.878 | 1 | DHEAS ALL | 7659 | 8.77823898673066 | 0.0558676432954693 | 0.651463 | ARPC1A (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER); ARPC1B (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); PDAP1 (6 kb); BUD31 (23 kb); PTCD1 (31 kb); ATP5J2-PTCD1 (34 kb) | 0.456 Blood protein levels // 0.44 Sex hormone levels // 0.44 Total body bone mineral density (age over 60) // 0.44 Total body bone mineral density // 0.44 Femoral neck bone mineral density // 0.44 Lumbar spine bone mineral density | - | AP4M1 | ARPC1B | ATP5J2 | BUD31 | CNPY4 | COPS6 | CPSF4 | CYP3A7 | GAL3ST4 | GS1-259H13.2 | LAMTOR4 | NYAP1 | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | TRIM4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF394 | ZNF789 | ZSCAN21 | Endocytosis:ARPC1A,ARPC1B | Pathogenic Escherichia coli infection:ARPC1A,ARPC1B | Spliceosome:BUD31 | Shigellosis:ARPC1A,ARPC1B | Bacterial invasion of epithelial cells:ARPC1A,ARPC1B | Salmonella infection:ARPC1A,ARPC1B | Regulation of actin cytoskeleton:ARPC1A,ARPC1B | Fc gamma R-mediated phagocytosis:ARPC1A,ARPC1B | EPHB-mediated forward signaling:ARPC1A,ARPC1B | EPH-Ephrin signaling:ARPC1A,ARPC1B | RHO GTPases Activate WASPs and WAVEs:ARPC1A,ARPC1B | Regulation of actin dynamics for phagocytic cup formation:ARPC1A,ARPC1B | Fcgamma receptor (FCGR) dependent phagocytosis:ARPC1A,ARPC1B | immune response-activating signal transduction:ARPC1A,ARPC1B | immune response-activating cell surface receptor signaling pathway:ARPC1A,ARPC1B | immune response-regulating cell surface receptor signaling pathway:ARPC1A,ARPC1B | ephrin receptor signaling pathway:ARPC1A,ARPC1B | Arp2/3 complex-mediated actin nucleation:ARPC1A,ARPC1B | actin nucleation:ARPC1A,ARPC1B | phagocytosis:ARPC1A,ARPC1B | positive regulation of protein complex assembly:ARPC1A,ARPC1B | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway involved in phagocytosis:ARPC1A,ARPC1B | Fc-gamma receptor signaling pathway:ARPC1A,ARPC1B | Fc receptor mediated stimulatory signaling pathway:ARPC1A,ARPC1B | positive regulation of actin filament polymerization:ARPC1A,ARPC1B | regulation of protein complex assembly:ARPC1A,ARPC1B | 0.0643812 | 0.0383358 | 1.03046714211066 | 0.0729535 | 0.0331928 | 1.55087041066592 | -0.0284539 | 0.079853 | 0.141707086577152 | 0.0434183 | 0.0421946 | 0.517698232776557 | 0.0356563 | 0.0438179 | 0.380971400778549 | 0.0527627 | 0.0930517 | 0.243458214633287 | 0.0297257 | 0.0314818 | 0.461969473871097 | 0.0291522 | 0.0345175 | 0.399567314997583 | 0.0246641 | 0.0652766 | 0.151403268756392 | -0.139681 | 0.0231744 | 8.77823898673066 | -0.155804 | 0.0291085 | 7.06181312795515 | -0.117519 | 0.0368504 | 2.84549690545591 | 0.0468621 | 0.0243037 | 1.26896029146513 | -0.0539103 | 0.0393024 | 0.769134866358967 | -0.0192408 | 0.0223843 | 0.408905327473163 | -0.0195795 | 0.0277823 | 0.317884720319627 | -0.0206764 | 0.0355914 | 0.250818885138284 | -0.00173967 | 0.0133132 | 0.0476755107260075 | -0.0277884 | 0.0172245 | 0.971925135062269 | 0.0306754 | 0.0207402 | 0.856576093379938 | -0.0345044 | 0.0629497 | 0.233834860609741 | -0.0051039 | 0.0757603 | 0.023972077788914 | -0.0961505 | 0.113598 | 0.400529594560747 | ||||||
rs10786714:104598606:G:C | novel1 | 10 | 104598606 | 10q24.32 | C | G | 0.993 | 54 | PROG MEN | 1358 | 8.61973990290724 | 0.325648379970545 | PFN1P11 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP17A1 (1.3 kb, near gene/Upstream gene/MODIFIER); CYP17A1-AS1 (4.3 kb, near gene/Downstream gene/MODIFIER); PTGES3P4 (6.7 kb); C10orf32 (15 kb); C10orf32-ASMT (15 kb); WBP1L (23 kb); RNU6-372P (30 kb); AS3MT (31 kb); RNU6-1231P (35 kb) | 0.991 Colorectal cancer // 0.773 Blood pressure // 0.763 Arsenic metabolism // 0.658 Waist circumference // 0.658 Hip circumference // 0.594 Sodium levels // 0.458 Schizophrenia // 0.458 Immature fraction of reticulocytes // 0.452 Autism spectrum disorder or schizophrenia // 0.377 Prostate cancer // 0.361 Chloride levels // 0.351 Mean corpuscular volume // 0.351 Mean corpuscular hemoglobin // 0.317 White blood cell count // 0.311 White matter lesion progression // 0.306 Creatine kinase levels // 0.304 Migraine // 0.302 Reticulocyte fraction of red cells // 0.302 High light scatter reticulocyte count // 0.302 High light scatter reticulocyte percentage of red cells // 0.301 Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | - | ACTR1A | ARL3 | AS3MT | BORCS7 | BORCS7-ASMT | C10orf26 | C10ORF26 | C10orf32 | C10ORF32 | C10orf76 | C10orf95 | CALHM2 | CNNM2 | CYP17A1 | CYP17A1-AS1 | ELOVL3 | FBXL15 | GBF1 | HPS6 | HSA-MIR | hsa-mir-1307 | MARCKSL1P1 | MFSD13A | MIR1307 | NT5C2 | PCGF6 | PDCD11 | POLL | PPRC1 | PSD | RP11-18I14.10 | RP11-47A8.5 | RP11-724N1.1 | RP11-753C18.8 | RP11-792D24.4 | SFXN2 | SH3PXD2A | SUFU | TAF5 | TMEM180 | TRIM8 | USMG5 | USMG5P1 | WBP1L | D4S234E | SCML1 | Steroid hormone biosynthesis:CYP17A1 | Cortisol synthesis and secretion:CYP17A1 | Interferon gamma signaling:TRIM8 | Interferon Signaling:TRIM8 | Cytochrome P450 - arranged by substrate type:CYP17A1 | MHC class II antigen presentation:ACTR1A | Metabolism of steroid hormones:CYP17A1 | Phase I - Functionalization of compounds:CYP17A1 | Endogenous sterols:CYP17A1 | Methylation:AS3MT | HSP90 chaperone cycle for steroid hormone receptors (SHR):ACTR1A | Metabolic disorders of biological oxidation enzymes:CYP17A1 | Biological oxidations:AS3MT,CYP17A1 | Degradation of GLI1 by the proteasome:SUFU | Degradation of GLI2 by the proteasome:SUFU | GLI3 is processed to GLI3R by the proteasome:SUFU | Hedgehog 'on' state:SUFU | Phase II - Conjugation of compounds:AS3MT | Hedgehog 'off' state:SUFU | Androgen biosynthesis:CYP17A1 | M Phase:ACTR1A | Signaling by Hedgehog:SUFU | G2/M Transition:ACTR1A | Mitotic G2-G2/M phases:ACTR1A | Mitotic Prometaphase:ACTR1A | Cilium Assembly:ACTR1A,ARL3 | reproductive system disease:CYP17A1 | polycystic ovary syndrome:CYP17A1 | ovarian disease:CYP17A1 | female reproductive system disease:CYP17A1 | osteoporosis:CYP17A1 | bone resorption disease:CYP17A1 | infertility:CYP17A1 | cell type benign neoplasm:ACTR1A,CYP17A1 | myopathy:CYP17A1 | muscle tissue disease:CYP17A1 | muscular disease:CYP17A1 | pleural cancer:ACTR1A | malignant pleural mesothelioma:ACTR1A | connective tissue cancer:ACTR1A | antigen processing and presentation of exogenous peptide antigen:ACTR1A | antigen processing and presentation of exogenous antigen:ACTR1A | antigen processing and presentation of peptide antigen:ACTR1A | antigen processing and presentation:ACTR1A | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:ACTR1A | interferon-gamma-mediated signaling pathway:TRIM8 | antigen processing and presentation of exogenous peptide antigen via MHC class II:ACTR1A | antigen processing and presentation of peptide antigen via MHC class II:ACTR1A | cellular response to interferon-gamma:TRIM8 | response to interferon-gamma:TRIM8 | glucocorticoid metabolic process:CYP17A1 | toxin metabolic process:AS3MT | glucocorticoid biosynthetic process:CYP17A1 | negative regulation of protein ubiquitination:SUFU | negative regulation of protein modification by small protein conjugation or removal:SUFU | cellular hormone metabolic process:CYP17A1 | hormone biosynthetic process:CYP17A1 | secondary metabolic process:AS3MT | cellular ketone metabolic process:CYP17A1 | steroid metabolic process:CYP17A1 | positive regulation of NF-kappaB transcription factor activity:TRIM8 | interaction with host:TRIM8 | nucleocytoplasmic transport:SUFU | podosome assembly:SH3PXD2A | nuclear transport:SUFU | cytoplasmic sequestering of transcription factor:SUFU | hormone metabolic process:CYP17A1 | regulation of protein ubiquitination:SUFU | negative regulation of multi-organism process:TRIM8 | xenobiotic metabolic process:AS3MT | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:SUFU | cellular response to xenobiotic stimulus:AS3MT | response to xenobiotic stimulus:AS3MT | regulation of protein modification by small protein conjugation or removal:SUFU | smoothened signaling pathway:ARL3,SUFU | androgen metabolic process:CYP17A1 | cytoplasmic sequestering of protein:SUFU | regulation of DNA binding transcription factor activity:SUFU,TRIM8 | regulation of osteoblast differentiation:SUFU | negative regulation of osteoblast differentiation:SUFU | magnesium ion homeostasis:CNNM2 | protein localization to nucleus:SUFU,TRIM8 | steroid biosynthetic process:CYP17A1 | positive regulation of catabolic process:TRIM8 | viral entry into host cell:TRIM8 | negative regulation of proteolysis involved in cellular protein catabolic process:SUFU | regulation of autophagy:TRIM8 | drug metabolic process:NT5C2 | regulation of transcription factor import into nucleus:SUFU | negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:SUFU | transcription factor import into nucleus:SUFU | C21-steroid hormone metabolic process:CYP17A1 | entry into host cell:TRIM8 | entry into host:TRIM8 | entry into cell of other organism involved in symbiotic interaction:TRIM8 | entry into other organism involved in symbiotic interaction:TRIM8 | syncytium formation by plasma membrane fusion:SH3PXD2A | syncytium formation:SH3PXD2A | regulation of G2/M transition of mitotic cell cycle:ACTR1A | positive regulation of DNA binding transcription factor activity:TRIM8 | reactive oxygen species metabolic process:SH3PXD2A | regulation of cell cycle G2/M phase transition:ACTR1A | regulation of proteolysis involved in cellular protein catabolic process:SUFU | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:SUFU | negative regulation of cellular protein catabolic process:SUFU | negative regulation of catabolic process:SUFU | negative regulation of cellular catabolic process:SUFU | regulation of protein localization to nucleus:SUFU,TRIM8 | superoxide metabolic process:SH3PXD2A | positive regulation of cellular catabolic process:TRIM8 | negative regulation of ossification:SUFU | regulation of protein catabolic process:SUFU | regulation of G0 to G1 transition:PCGF6 | negative regulation of transcription factor import into nucleus:SUFU | autophagy:TRIM8 | process utilizing autophagic mechanism:TRIM8 | G2/M transition of mitotic cell cycle:ACTR1A | regulation of cellular protein catabolic process:SUFU | G0 to G1 transition:PCGF6 | negative regulation of proteolysis:SUFU | cell cycle G2/M phase transition:ACTR1A | negative regulation of viral life cycle:TRIM8 | 0.0509603 | 0.0177716 | 2.37891619746985 | 0.0951468 | 0.0158349 | 8.61973990290724 | -0.0203393 | 0.0359371 | 0.243048363302726 | 0.0757422 | 0.01952 | 3.96808683553829 | 0.110168 | 0.020935 | 6.78212142197257 | 0.0125265 | 0.0397858 | 0.123222903488643 | -0.0219626 | 0.0146085 | 0.876527307469805 | -0.0187317 | 0.0166518 | 0.583645788734726 | -0.0275905 | 0.0278892 | 0.490987102719941 | -0.0264097 | 0.0109717 | 1.79368694806404 | -0.0270527 | 0.0135317 | 1.34116660845198 | -0.0258558 | 0.017867 | 0.830146360947826 | -0.013451 | 0.0107362 | 0.677255733169037 | 0.00454079 | 0.0112694 | 0.16304326294045 | -0.0374926 | 0.018323 | 1.39002055190814 | -0.00236738 | 0.0105219 | 0.0851376926622202 | 3.43765E-4 | 0.0128204 | 0.00939123825761134 | -0.0023436 | 0.0169608 | 0.0505611989634957 | 0.00215736 | 0.00626986 | 0.136211564072738 | 6.92826E-4 | 0.00802275 | 0.0309654276428863 | 0.0050451 | 0.00993464 | 0.213551696264703 | 0.0309261 | 0.0294 | 0.533176848934313 | 0.0390311 | 0.0368557 | 0.537925597137924 | 0.0152922 | 0.0487098 | 0.122825686501438 | |
rs6937167:32417794:A:AT | 6 | 32417794 | 6p21.32 | AT | A | 0.998 | 0 | OHP17 WOMEN | 712 | 8.59753398836169 | 0.0105372191011236 | HLA-DRA (5 kb, near gene/Downstream gene/MODIFIER); HLA-DRB9 (9.8 kb); BTNL2 (43 kb); HCG23 (56 kb) | NA | Type I diabetes mellitus:HLA-DRA,HLA-DRB5 | Allograft rejection:HLA-DRA,HLA-DRB5 | Graft-versus-host disease:HLA-DRA,HLA-DRB5 | Antigen processing and presentation:HLA-DRA,HLA-DRB5 | Autoimmune thyroid disease:HLA-DRA,HLA-DRB5 | Viral myocarditis:HLA-DRA,HLA-DRB5 | Staphylococcus aureus infection:HLA-DRA,HLA-DRB5 | Asthma:HLA-DRA,HLA-DRB5 | Phagosome:HLA-DRA,HLA-DRB5 | Herpes simplex infection:HLA-DRA,HLA-DRB5 | Intestinal immune network for IgA production:HLA-DRA,HLA-DRB5 | Rheumatoid arthritis:HLA-DRA,HLA-DRB5 | Inflammatory bowel disease (IBD):HLA-DRA,HLA-DRB5 | Toxoplasmosis:HLA-DRA,HLA-DRB5 | Systemic lupus erythematosus:HLA-DRA,HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-DRA,HLA-DRB5 | Leishmaniasis:HLA-DRA,HLA-DRB5 | Influenza A:HLA-DRA,HLA-DRB5 | Hematopoietic cell lineage:HLA-DRA,HLA-DRB5 | Epstein-Barr virus infection:HLA-DRA,HLA-DRB5 | Human T-cell leukemia virus 1 infection:HLA-DRA,HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DRA,HLA-DRB5 | Th17 cell differentiation:HLA-DRA,HLA-DRB5 | Tuberculosis:HLA-DRA,HLA-DRB5 | Translocation of ZAP-70 to Immunological synapse:HLA-DRA,HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DRA,HLA-DRB5 | Interferon gamma signaling:HLA-DRA,HLA-DRB5 | PD-1 signaling:HLA-DRA,HLA-DRB5 | Generation of second messenger molecules:HLA-DRA,HLA-DRB5 | Downstream TCR signaling:HLA-DRA,HLA-DRB5 | Interferon Signaling:HLA-DRA,HLA-DRB5 | TCR signaling:HLA-DRA,HLA-DRB5 | MHC class II antigen presentation:HLA-DRA,HLA-DRB5 | Costimulation by the CD28 family:HLA-DRA,HLA-DRB5 | Butyrophilin (BTN) family interactions:BTNL2 | Kawasaki disease:BTNL2 | lymphadenitis:BTNL2 | lymph node disease:BTNL2 | leprosy:BTNL2 | sarcoidosis:BTNL2 | hypersensitivity reaction type IV disease:BTNL2 | multiple sclerosis:BTNL2,HLA-DRA,HLA-DRB5 | demyelinating disease:BTNL2,HLA-DRA,HLA-DRB5 | lymphatic system disease:BTNL2 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | primary bacterial infectious disease:BTNL2 | bacterial infectious disease:BTNL2 | autoimmune disease of the nervous system:HLA-DRA | myasthenia gravis:HLA-DRA | neuromuscular junction disease:HLA-DRA | blood coagulation disease:HLA-DRA | hemorrhagic disease:HLA-DRA | neuromuscular disease:HLA-DRA | hematopoietic system disease:HLA-DRA | tuberculosis:BTNL2 | neuropathy:HLA-DRA | Crohn's disease:BTNL2 | inflammatory bowel disease:BTNL2 | antigen processing and presentation of exogenous peptide antigen:HLA-DRA,HLA-DRB5 | antigen processing and presentation of exogenous antigen:HLA-DRA,HLA-DRB5 | antigen processing and presentation of peptide antigen:HLA-DRA,HLA-DRB5 | antigen processing and presentation:HLA-DRA,HLA-DRB5 | interferon-gamma-mediated signaling pathway:HLA-DRA,HLA-DRB5 | cellular response to interferon-gamma:HLA-DRA,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DRA,HLA-DRB5 | response to interferon-gamma:HLA-DRA,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DRA,HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DRA,HLA-DRB5 | T cell receptor signaling pathway:HLA-DRA,HLA-DRB5 | immune response-activating signal transduction:HLA-DRA,HLA-DRB5 | T cell costimulation:HLA-DRA,HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:HLA-DRA,HLA-DRB5 | lymphocyte costimulation:HLA-DRA,HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DRA,HLA-DRB5 | immune response-regulating cell surface receptor signaling pathway:HLA-DRA,HLA-DRB5 | positive regulation of cell-cell adhesion:HLA-DRA,HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB5 | positive regulation of T cell activation:HLA-DRA,HLA-DRB5 | T cell activation:HLA-DRA,HLA-DRB5 | regulation of cell-cell adhesion:HLA-DRA,HLA-DRB5 | regulation of leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB5 | positive regulation of cell adhesion:HLA-DRA,HLA-DRB5 | positive regulation of lymphocyte activation:HLA-DRA,HLA-DRB5 | positive regulation of cell activation:HLA-DRA,HLA-DRB5 | regulation of lymphocyte activation:HLA-DRA,HLA-DRB5 | regulation of T cell activation:HLA-DRA,HLA-DRB5 | regulation of leukocyte activation:HLA-DRA,HLA-DRB5 | leukocyte cell-cell adhesion:HLA-DRA,HLA-DRB5 | positive regulation of leukocyte activation:HLA-DRA,HLA-DRB5 | 0.0924404 | 0.156511 | 0.255890163433033 | 1.02959 | 0.170533 | 8.59753398836169 | 0.181852 | 0.122465 | 0.860098884727221 | 0.270446 | 0.211117 | 0.697625773924417 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
rs6912701:32383573:C:T | 6 | 32383573 | 6p21.32 | T | C | 1 | 5 | OHP17 ALL | 2070 | 8.57678854321604 | 0.0144927536231884 | BTNL2 (8.7 kb); HCG23 (22 kb); HLA-DRA (24 kb); C6orf10 (44 kb); HLA-DRB9 (44 kb) | 0.328 Marginal zone lymphoma | - | ABHD16A | AGER | AGPAT1 | AIF1 | APOM | ATF6B | ATP6V1G2 | BAG6 | BRD2 | C2 | C4A | C4B | C4B 2 | C6orf10 | C6orf48 | CCHCR1 | CFB | CLIC1 | CSNK2B | CUTA | CYP21A2 | DDAH2 | DOM3Z | DXO | EHMT2 | FKBPL | FLOT1 | GPANK1 | GPSM3 | HCG23 | HCG27 | HCP5 | HLA-B | HLA-C | HLA-DMA | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DPB1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB1-AS1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-DRB9 | HSPA1A | HSPA1B | HSPA1L | IER3 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | MCCD1 | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NOTCH4 | PBX2 | PHF1 | PPT2-EGFL8 | PRRC2A | PRRT1 | PSMB9 | RDBP | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TAPBP | TCF19 | TNF | TNXA | TNXB | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG154L12.4 | XXbac-BPG254F23.6 | BTN3A2 | EXOC1 | FLOT1 | HCP5 | HLA-C | HLA-E | LIMS1 | LINC00243 | NHP2 | PPP1R11 | TINF2 | TMEM154 | TUBB | VARS2 | XRCC6 | ZNF672 | ZNRD1 | Type I diabetes mellitus:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Allograft rejection:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Graft-versus-host disease:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Antigen processing and presentation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Viral myocarditis:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Staphylococcus aureus infection:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Phagosome:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | Herpes simplex infection:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | Intestinal immune network for IgA production:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Toxoplasmosis:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Leishmaniasis:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Influenza A:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Epstein-Barr virus infection:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Th1 and Th2 cell differentiation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Natural killer cell mediated cytotoxicity:NCR3 | Endocytosis:HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:TAP2 | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:TAP2 | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:TAP2 | ER-Phagosome pathway:TAP2 | Antigen processing-Cross presentation:TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:NCR3 | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | Butyrophilin (BTN) family interactions:BTNL2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:TAP2 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | Neutrophil degranulation:HSPA1A,HSPA1B | Interleukin-1 family signaling:AGER | Influenza Life Cycle:HSPA1A,HSPA1B | Cytosolic sensors of pathogen-associated DNA :AGER | Kawasaki disease:HLA-DRB1,PRRC2A,BTNL2 | lymphadenitis:HLA-DRB1,PRRC2A,BTNL2 | lymph node disease:HLA-DRB1,PRRC2A,BTNL2 | lymphatic system disease:HLA-DRB1,PRRC2A,BTNL2 | leprosy:BTNL2,HLA-DQB1,HLA-DRB1 | sarcoidosis:AGER,BTNL2,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:AGER,BTNL2,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | multiple sclerosis:BTNL2,HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1 | endocrine system disease:AGER,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DQB1,HLA-DRB1 | demyelinating disease:BTNL2,HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DQB1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-DQA1,HLA-DRB1,AGER,HLA-DQB1 | primary bacterial infectious disease:BTNL2,HLA-DQB1,HLA-DRB1,TAP2 | hepatitis:HLA-DQA1,HLA-DQB1,HLA-DRB1,NCR3 | hyperthyroidism:HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | rheumatic fever:HLA-DQA1,HLA-DQB1,HLA-DRB1 | bacterial infectious disease:BTNL2,HLA-DQB1,HLA-DRB1,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1,HLA-DQB1 | urticaria:HLA-DRB1,HLA-DQB1 | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DQB1,HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-DQA1,HLA-DRB1,NCR3,HLA-DQB1 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DQB1 | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TAP2 | malaria:HLA-DRB1,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:HLA-DQB1,HLA-DRB1 | pure red-cell aplasia:HLA-DQB1,HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DQB1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA,HLA-DQB1 | brucellosis:TAP2 | duodenal ulcer:HLA-DQB1,HSPA1A | cholestasis:HLA-DQA1,HLA-DQB1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-DQA1,HLA-DQB1,HLA-DRB1 | upper respiratory tract disease:HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A | urinary system disease:AGER,AIF1,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1A | multiple myeloma:NCR3 | myeloma:NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5,HLA-DQB1 | bone marrow cancer:NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L,HLA-DQB1 | bile duct disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | biliary tract disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | azoospermia:HLA-DQB1,HLA-DRB1,MSH5 | proteinuria:HLA-DRB1 | kidney disease:AGER,AIF1,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DQB1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1,HLA-DQB1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DQB1,HLA-DRA | thyroiditis:HLA-DQB1,HLA-DRB1 | nasal cavity disease:TAP2 | nose disease:TAP2 | rhinitis:TAP2 | collagen disease:AGER,AIF1,HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:AGER,HLA-DQB1,HLA-DRB1,HSPA1B | nephritis:AIF1,HLA-DQA1,HLA-DQB1,HLA-DRB1 | periodontitis:AGER,HLA-DQB1 | celiac disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | peptic ulcer disease:HSPA1A,HLA-DQB1 | hematopoietic system disease:HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1 | gestational diabetes:AGER,HLA-DQB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1,HLA-DQB1 | rheumatic disease:AGER,AIF1,HLA-DRB1,TAP2 | systemic scleroderma:AGER,AIF1,HLA-DRB1,TAP2 | scleroderma:AGER,AIF1,HLA-DRB1,TAP2 | male reproductive system disease:HLA-DQB1,HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DQB1,HLA-DRB1,MSH5 | silicosis:HLA-DQB1,HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | sickle cell anemia:HLA-DQB1,HLA-DRB1 | periodontal disease:AGER,HLA-DQB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-DQB1,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:AGER,HLA-DQB1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:BTNL2,HLA-DQB1,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DQB1,HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | aortic valve disease:AGER | pneumoconiosis:HLA-DQB1,HLA-DRB1 | schistosomiasis:HLA-DRB1 | sclerosing cholangitis:HLA-DRB1 | tooth disease:AGER,HLA-DQB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B,AGER,HLA-DQB1 | open-angle glaucoma:HLA-DQB1,HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DQB1,HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DQB1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:AGER,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | neutropenia:HLA-DQB1 | agranulocytosis:HLA-DQB1 | gastritis:HLA-DQB1,HLA-DRB1 | dermatomyositis:AGER,HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5 | osteomyelitis:HLA-DQB1,HLA-DRB1 | neuropathy:AGER,HLA-DQA1,HLA-DQB1,HLA-DRA | mouth disease:AGER,HLA-DQB1 | Sjogren's syndrome:AGER | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DQB1,HLA-DRB1 | primary biliary cirrhosis:HLA-DQB1,HLA-DRB1 | stomach disease:HLA-DRB1,HLA-DQB1 | cholangitis:HLA-DRB1 | Crohn's disease:BTNL2,HSPA1B | lung disease:AGER,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-DRB1 | heart valve disease:AGER | pulmonary edema:HSPA1A | aortic valve stenosis:AGER | myositis:AGER,HLA-DRB1 | leukopenia:HLA-DQB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,BTNL2 | myopathy:AGER,HLA-DQB1,HLA-DRB1 | muscle tissue disease:AGER,HLA-DQB1,HLA-DRB1 | nasopharynx carcinoma:HSPA1B | pharynx cancer:HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | cardiomyopathy:HLA-DQB1 | muscular disease:AGER,HLA-DQB1,HLA-DRB1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:HLA-DQB1,HLA-DRB1 | renal cell carcinoma:HLA-DQB1,HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2,HLA-DQB1 | esophageal carcinoma:HLA-DRB1 | retinal disease:AGER,HLA-DQB1,HLA-DRB1,TAP2 | skin disease:HLA-DQB1,HLA-DRB1 | female reproductive organ cancer:HLA-DQA1,HLA-DQB1,HLA-DRB1 | extrinsic cardiomyopathy:HLA-DQB1 | myocarditis:HLA-DQB1 | pulmonary fibrosis:AGER | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | coronary artery disease:AGER | retinal degeneration:HLA-DQB1,HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:HLA-DQA1,HLA-DRB1 | ovarian carcinoma:HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of exogenous antigen:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of peptide antigen:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,TAP2 | interferon-gamma-mediated signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | cellular response to interferon-gamma:AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | positive regulation of leukocyte cell-cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | positive regulation of T cell activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | T cell activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | regulation of cell-cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:TAP2 | regulation of leukocyte cell-cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I:TAP2 | positive regulation of cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | positive regulation of lymphocyte activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | positive regulation of cell activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | regulation of lymphocyte activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,LST1 | regulation of T cell activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | regulation of leukocyte activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1,LST1 | leukocyte cell-cell adhesion:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class I:TAP2 | positive regulation of leukocyte activation:AGER,AIF1,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRA,HLA-DRB1 | lymphocyte mediated immunity:AGER,HLA-DQB1,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:AGER,HLA-DQB1,NCR3 | adaptive immune response:AGER,HLA-DQB1,NCR3,TAP2 | humoral immune response mediated by circulating immunoglobulin:HLA-DQB1 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3,AGER | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | leukocyte mediated cytotoxicity:NCR3,AGER | positive regulation of defense response:HSPA1A,HSPA1B,NCR3 | positive regulation of cytokine production:AGER,HSPA1A,HSPA1B | T cell mediated immunity:AGER,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:AGER,NCR3 | positive regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | positive regulation of T cell proliferation:AGER,AIF1 | regulation of lymphocyte mediated immunity:NCR3,AGER | NIK/NF-kappaB signaling:AGER | regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B | regulation of T cell proliferation:AGER,AIF1 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:NCR3,AGER | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:AGER,AIF1,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:AGER,AIF1,LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | immunoglobulin mediated immune response:HLA-DQB1 | regulation of leukocyte proliferation:AGER,AIF1,LST1 | B cell mediated immunity:HLA-DQB1 | mRNA catabolic process:HSPA1A,HSPA1B | response to tumor necrosis factor:HSPA1A,HSPA1B | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:AIF1 | positive regulation of nitric oxide metabolic process:AIF1 | regulation of leukocyte mediated immunity:NCR3,AGER | activation of innate immune response:HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:AGER,NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | T cell proliferation:AGER,AIF1 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of lymphocyte proliferation:AGER,AIF1 | positive regulation of mononuclear cell proliferation:AGER,AIF1 | regulation of leukocyte mediated cytotoxicity:AGER,NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B | positive regulation of leukocyte proliferation:AGER,AIF1 | positive regulation of reactive oxygen species biosynthetic process:AIF1 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | humoral immune response:HLA-DQB1 | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:AIF1 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,AGER | lymphocyte proliferation:AGER,AIF1,LST1 | mononuclear cell proliferation:AGER,AIF1,LST1 | positive regulation of interleukin-12 production:AGER | regulation of cell killing:AGER,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of interleukin-8 production:HSPA1A,HSPA1B | RNA phosphodiester bond hydrolysis:HSPA1A | regulation of dendritic cell differentiation:AGER | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3,AGER | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AGER,AIF1,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,AGER | regulation of protein stability:HSPA1A,HSPA1B | nitric oxide biosynthetic process:AIF1 | interleukin-8 production:HSPA1A,HSPA1B | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | nucleocytoplasmic transport:AGER | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:AIF1 | nuclear transport:AGER | natural killer cell activation:NCR3 | reactive nitrogen species metabolic process:AIF1 | positive regulation of mononuclear cell migration:AIF1 | cellular response to topologically incorrect protein:HSPA1A | protein stabilization:HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1 | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | mRNA cleavage:HSPA1A | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A | regulation of reactive oxygen species biosynthetic process:AIF1 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | response to endoplasmic reticulum stress:HSPA1A | positive regulation of immune effector process:NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:NCR3 | positive regulation of NIK/NF-kappaB signaling:AGER | spindle assembly:HSPA1A,HSPA1B | regulation of interleukin-12 production:AGER | nucleic acid phosphodiester bond hydrolysis:HSPA1A | interleukin-12 production:AGER | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of response to endoplasmic reticulum stress:HSPA1A | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:AIF1 | negative regulation of immune system process:LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | positive regulation of NF-kappaB import into nucleus:AGER | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | regulation of T cell mediated immunity:AGER,NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:AGER | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:LY6G5B,LY6G5C | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | protein localization to nucleus:AGER | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | regulation of mononuclear cell migration:AIF1 | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:HSPA1A | microglial cell activation:AGER,AIF1 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | phagocytosis:AIF1 | mRNA cleavage involved in mRNA processing:HSPA1A | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:AGER | synapsis:MSH5 | macrophage activation:AGER,AIF1 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:HSPA1A | positive regulation of cellular catabolic process:HSPA1A | regulation of transcription factor import into nucleus:AGER | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1 | negative regulation of growth:HSPA1A,HSPA1B | transcription factor import into nucleus:AGER | regulation of binding:AGER | regulation of mRNA metabolic process:HSPA1A | regulation of NIK/NF-kappaB signaling:AGER | smooth muscle cell proliferation:AIF1 | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | positive regulation of cellular component biogenesis:HSPA1A,HSPA1B | regulation of cellular protein catabolic process:HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | glial cell activation:AGER,AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1 | mitochondrial membrane organization:HSPA1A | immunoglobulin production:HLA-DQB1 | reactive oxygen species metabolic process:AIF1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | cellular response to ammonium ion:AIF1 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:HSPA1A | homologous chromosome segregation:MSH5 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of macrophage activation:AGER | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | ruffle assembly:AIF1 | regulation of protein catabolic process:HSPA1A | chromosome organization involved in meiotic cell cycle:MSH5 | negative regulation of chemotaxis:AIF1 | regulation of cell cycle phase transition:AIF1 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B | protein complex localization:AGER | regulation of reactive oxygen species metabolic process:AIF1 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | regulation of response to endoplasmic reticulum stress:HSPA1A | regulation of leukocyte chemotaxis:AIF1 | response to unfolded protein:HSPA1A,HSPA1L | response to oxidative stress:AIF1,HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | smooth muscle cell migration:AIF1 | negative regulation of leukocyte activation:LST1 | 0.126341 | 0.0696795 | 1.15520545172006 | 0.131343 | 0.0662893 | 1.32099752050376 | 0.0423456 | 0.122401 | 0.137049126610555 | 0.454746 | 0.0760662 | 8.57678854321604 | 0.282169 | 0.0871641 | 2.90789369539476 | 0.704901 | 0.140108 | 6.20847004861699 | 0.0669123 | 0.0572214 | 0.615476342817655 | 0.019453 | 0.0689278 | 0.109123685829323 | 0.140075 | 0.0998769 | 0.792605328062484 | -0.0197996 | 0.0376733 | 0.222432544073506 | -0.0056029 | 0.0468252 | 0.0434685281332738 | -0.0378784 | 0.0607829 | 0.273134295119016 | 0.00858497 | 0.0378406 | 0.0859092407740991 | 0.00321165 | 0.039344 | 0.0292157946706954 | 0.022403 | 0.0633216 | 0.140566866997809 | 0.0387396 | 0.0357535 | 0.555053183877104 | 0.0786974 | 0.043487 | 1.15276120966157 | 0.015602 | 0.0218134 | 0.323804972232374 | 0.0115509 | 0.0340115 | 0.134218154687963 | 0.314261 | 0.114591 | 2.21091237908696 | 0.271576 | 0.151106 | 1.13950088508708 | 0.369694 | 0.174991 | 1.45601634106106 | ||||||||
rs200025476:32683564:A:T | 6 | 32683564 | 6p21.32 | T | A | 0.978 | 20 | OHP17 ALL | 2070 | 8.53585039045158 | 0.0116227053140097 | XXbac-BPG254F23.7 (2.2 kb, near gene/Upstream gene/MODIFIER); MTCO3P1 (8.8 kb); HLA-DQB3 (15 kb); HLA-DQA2 (26 kb); MIR3135B (34 kb); HLA-DQB2 (40 kb); HLA-DQB1 (47 kb) | NA | - | ATF6B | C4A | C4B | C4B 2 | C6orf10 | CLIC1 | CSNK2B | DDAH2 | DDR1 | DDX39B | DXO | FLOT1 | GPANK1 | GPSM3 | HCG23 | HCG27 | HCP5 | HLA-C | HLA-DMB | HLA-DOA | HLA-DOB | HLA-DQA1 | HLA-DQB1 | HLA-DRA | HLA-DRB1 | HLA-DRB5 | HLA-DRB6 | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LY6G5B | LY6G5C | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PSMB9 | RDBP | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP2 | unnamed | VARS2 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | ZBTB12 | FLOT1 | HCP5 | HLA-C | LIMS1 | LINC00243 | LST1 | NCR3 | TAP2 | VARS2 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Allograft rejection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Staphylococcus aureus infection:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Asthma:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Phagosome:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Rheumatoid arthritis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Toxoplasmosis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Leishmaniasis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Influenza A:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Th17 cell differentiation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Tuberculosis:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DRB1 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | MHC class II antigen presentation:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,TAP2 | Antigen processing-Cross presentation:HLA-C,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,TAP2 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B | Influenza Life Cycle:HSPA1A,HSPA1B | Kawasaki disease:HLA-C,HLA-DRB1 | lymphadenitis:HLA-C,HLA-DRB1 | lymph node disease:HLA-C,HLA-DRB1 | lymphatic system disease:HLA-C,HLA-DRB1 | leprosy:HLA-DQB1,HLA-DRB1 | sarcoidosis:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | multiple sclerosis:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1 | endocrine system disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DQB1,HLA-DRB1 | demyelinating disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DQB1,HLA-DRB1 | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1,HLA-DQB1 | primary bacterial infectious disease:HLA-DQB1,HLA-DRB1,TAP2 | hepatitis:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,NCR3 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1,TAP2 | vitiligo:HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DQB1,HLA-DRB1 | bacterial infectious disease:HLA-DQB1,HLA-DRB1,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1,HLA-DQB1 | urticaria:HLA-DRB1,HLA-DQB1 | spondyloarthropathy:HLA-C | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DQB1,HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3,HLA-DQB1 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRB1,HLA-DQB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,TAP2 | malaria:HLA-DRB1,NCR3 | hair disease:HLA-DQA1 | pulmonary sarcoidosis:HLA-DQB1,HLA-DRB1 | pure red-cell aplasia:HLA-DQB1,HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DQB1 | neuromuscular junction disease:HLA-DQA1,HLA-DQB1 | brucellosis:TAP2 | duodenal ulcer:HLA-DQB1,HSPA1A | cholestasis:HLA-DQA1,HLA-DQB1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3 | urinary system disease:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1A | multiple myeloma:NCR3 | myeloma:NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5,HLA-DQB1 | bone marrow cancer:NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L,HLA-DQB1 | bile duct disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DQB1,HLA-DRB1 | azoospermia:HLA-DQB1,HLA-DRB1,MSH5 | proteinuria:HLA-DRB1 | kidney disease:HLA-DQA1,HLA-DQB1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DQB1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1,HLA-DQB1 | blood coagulation disease:HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DQB1 | thyroiditis:HLA-DQB1,HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:HLA-DQB1,HLA-DRB1,HSPA1B | nephritis:HLA-DQA1,HLA-DQB1,HLA-DRB1 | periodontitis:HLA-DQB1 | celiac disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | peptic ulcer disease:HSPA1A,HLA-DQB1 | hematopoietic system disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | gestational diabetes:HLA-DQB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1,HLA-DQB1 | rheumatic disease:HLA-DRB1,TAP2 | systemic scleroderma:HLA-DRB1,TAP2 | scleroderma:HLA-DRB1,TAP2 | male reproductive system disease:HLA-DQB1,HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DQB1,HLA-DRB1,MSH5 | silicosis:HLA-DQB1,HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DQB1,HLA-DRB1 | sickle cell anemia:HLA-DQB1,HLA-DRB1 | periodontal disease:HLA-DQB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DQB1,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:HLA-DQB1,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:HLA-DQB1,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DQB1,HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DQB1,HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | tooth disease:HLA-DQB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B,HLA-DQB1 | open-angle glaucoma:HLA-DQB1,HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DQB1,HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DQB1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | neutropenia:HLA-DQB1 | agranulocytosis:HLA-DQB1 | gastritis:HLA-DQB1,HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5 | osteomyelitis:HLA-DQB1,HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DQB1 | mouth disease:HLA-DQB1 | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DQB1,HLA-DRB1 | primary biliary cirrhosis:HLA-DQB1,HLA-DRB1 | stomach disease:HLA-DRB1,HLA-DQB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:HSPA1B | lung disease:HLA-DQB1,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | pulmonary edema:HSPA1A | myositis:HLA-DRB1 | leukopenia:HLA-DQB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B | myopathy:HLA-DQB1,HLA-DRB1 | muscle tissue disease:HLA-DQB1,HLA-DRB1 | nasopharynx carcinoma:HSPA1B | pharynx cancer:HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | cardiomyopathy:HLA-DQB1 | muscular disease:HLA-DQB1,HLA-DRB1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:HLA-DQB1,HLA-DRB1 | renal cell carcinoma:HLA-DQB1,HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2,HLA-DQB1 | esophageal carcinoma:HLA-DRB1 | skin disease:HLA-DQB1,HLA-DRB1 | retinal disease:HLA-DQB1,HLA-DRB1,TAP2 | female reproductive organ cancer:HLA-DQA1,HLA-DQB1,HLA-DRB1 | extrinsic cardiomyopathy:HLA-DQB1 | myocarditis:HLA-DQB1 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:HLA-DQB1,HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:HLA-DQA1,HLA-DRB1 | ovarian carcinoma:HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | cellular response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | immune response-activating signal transduction:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | positive regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | positive regulation of T cell activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | T cell activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | regulation of cell-cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | positive regulation of lymphocyte activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | positive regulation of cell activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | regulation of lymphocyte activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | regulation of T cell activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | regulation of leukocyte activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | leukocyte cell-cell adhesion:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of leukocyte activation:HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1 | lymphocyte mediated immunity:HLA-DQB1,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:HLA-DQB1,NCR3 | adaptive immune response:HLA-DQB1,NCR3,TAP2 | humoral immune response mediated by circulating immunoglobulin:HLA-DQB1 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | leukocyte mediated cytotoxicity:NCR3 | positive regulation of defense response:GPSM3,HSPA1A,HSPA1B,NCR3 | positive regulation of cytokine production:GPSM3,HSPA1A,HSPA1B | T cell mediated immunity:NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:NCR3 | positive regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | regulation of lymphocyte mediated immunity:NCR3 | regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:NCR3 | positive regulation of lymphocyte mediated immunity:NCR3 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | immunoglobulin mediated immune response:HLA-DQB1 | B cell mediated immunity:HLA-DQB1 | mRNA catabolic process:HSPA1A,HSPA1B | response to tumor necrosis factor:HSPA1A,HSPA1B | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:NCR3 | activation of innate immune response:HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | humoral immune response:HLA-DQB1 | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:HSPA1A,HSPA1B | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:DDAH2 | natural killer cell activation:NCR3 | reactive nitrogen species metabolic process:DDAH2 | cellular response to topologically incorrect protein:HSPA1A | protein stabilization:HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | mRNA cleavage:HSPA1A | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A | regulation of reactive oxygen species biosynthetic process:DDAH2 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | response to endoplasmic reticulum stress:HSPA1A | positive regulation of immune effector process:NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | positive regulation of T cell mediated immunity:NCR3 | spindle assembly:HSPA1A,HSPA1B | nucleic acid phosphodiester bond hydrolysis:HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of response to endoplasmic reticulum stress:HSPA1A | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:HLA-DOB | positive regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | mitotic spindle assembly:HSPA1A,HSPA1B | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:HSPA1A | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | mRNA cleavage involved in mRNA processing:HSPA1A | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:GPSM3 | synapsis:MSH5 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:HSPA1A | positive regulation of cellular catabolic process:HSPA1A | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | negative regulation of growth:HSPA1A,HSPA1B | regulation of mRNA metabolic process:HSPA1A | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:HSPA1A,HSPA1B | regulation of cellular protein catabolic process:HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | mitochondrial membrane organization:HSPA1A | immunoglobulin production:HLA-DQB1 | reactive oxygen species metabolic process:DDAH2 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:HSPA1A | homologous chromosome segregation:MSH5 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | cellular amino acid metabolic process:DDAH2 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | regulation of protein catabolic process:HSPA1A | chromosome organization involved in meiotic cell cycle:MSH5 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of reactive oxygen species metabolic process:DDAH2 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | regulation of response to endoplasmic reticulum stress:HSPA1A | regulation of leukocyte chemotaxis:GPSM3 | response to unfolded protein:HSPA1A,HSPA1L | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | 0.182141 | 0.0779633 | 1.70832707226234 | 0.172146 | 0.130574 | 0.727283718603553 | 0.507765 | 0.0851576 | 8.53585039045158 | 0.688868 | 0.14393 | 5.68392057011321 | 0.0960709 | 0.064044 | 0.873715950600623 | 0.0927286 | 0.102516 | 0.436490437212582 | -0.0578012 | 0.04481 | 0.705359650048355 | -0.015902 | 0.0755551 | 0.0791975758271462 | -0.058618 | 0.0444799 | 0.726875984709603 | 0.0108217 | 0.0736303 | 0.0539640514624564 | 0.017445 | 0.0427668 | 0.165363792212406 | -0.0451811 | 0.0712266 | 0.279124907699044 | -0.0148641 | 0.0258121 | 0.248174521619654 | 0.00126205 | 0.0415849 | 0.0106440819669659 | 0.322597 | 0.127155 | 1.94863520768987 | 0.259393 | 0.176518 | 0.847228695184985 | ||||||||||||||||||||||||||
rs34289079:7593319:T:C | 17 | 7593319 | 17p13.1 | C | T | 0.887 | 33 | TESTO MEN | 4291 | 8.44362994756719 | 0.0961251456536938 | 0.00386682 | WRAP53 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); TP53 (2.5 kb, near gene/Upstream gene/MODIFIER); RP11-199F11.2 (3.6 kb, near gene/Upstream gene/MODIFIER); EFNB3 (15 kb); DNAH2 (27 kb); ATP1B2 (32 kb) | 0.363 Cognitive function | - | ASGR1 | AURKB | C17orf61 | C17orf81 | CD68 | CHD3 | CTDNEP1 | CYB5D1 | DLG4 | DNAH2 | EFNB3 | EIF4A1 | EIF5A | GABARAP | LSMD1 | MPDU1 | NDEL1 | PER1 | RP11-186B7.4 | RPL26 | SAT2 | SNORA48 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | WRAP53 | ZBTB4 | Herpes simplex infection:TP53 | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:TP53 | Human T-cell leukemia virus 1 infection:TP53 | Thyroid hormone synthesis:ASGR1,ATP1B2 | Huntington disease:DLG4,DNAH2,TP53 | Kaposi sarcoma-associated herpesvirus infection:TP53 | Ferroptosis:TP53 | Cellular senescence:TP53 | Transcriptional misregulation in cancer:TP53 | Viral carcinogenesis:TP53 | Small cell lung cancer:TP53 | Human cytomegalovirus infection:TP53 | Endocrine resistance:TP53 | Aldosterone synthesis and secretion:ATP1B2 | Measles:TP53 | TP53 Regulates Transcription of DNA Repair Genes:TP53 | TNFR2 non-canonical NF-kB pathway:TNFSF13 | Pre-NOTCH Transcription and Translation:TP53 | Association of TriC/CCT with target proteins during biosynthesis:TP53,WRAP53 | EPHB-mediated forward signaling:EFNB3 | Pre-NOTCH Expression and Processing:TP53 | Transcriptional Regulation by TP53:TP53 | Neurexins and neuroligins:DLG4 | Asparagine N-linked glycosylation:ASGR1,MPDU1 | TP53 Regulates Metabolic Genes:TP53 | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Protein-protein interactions at synapses:DLG4 | Regulation of TP53 Activity through Phosphorylation:TP53 | EPH-Ephrin signaling:EFNB3 | Chaperonin-mediated protein folding:TP53,WRAP53 | Formation of Senescence-Associated Heterochromatin Foci (SAHF):TP53 | Protein folding:TP53,WRAP53 | Signaling by NOTCH:TP53 | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | endocrine system disease:TP53 | lymphatic system disease:TNFSF13,TP53 | intrahepatic cholestasis:TP53 | Graves' disease:TP53 | autoimmune disease of endocrine system:TP53 | hyperthyroidism:TP53 | hypersensitivity reaction type I disease:TP53 | hepatitis:TP53 | hepatitis C:TP53 | aplastic anemia:TP53 | hypotrichosis:TNFSF13 | duodenal ulcer:TP53 | cholestasis:TP53 | urinary system disease:TNFSF13,TP53 | multiple myeloma:TNFSF13,TP53 | myeloma:TNFSF13,TP53 | bone marrow cancer:TNFSF13,TP53 | primary bacterial infectious disease:TP53 | bile duct disease:TP53 | hair disease:TNFSF13 | vitiligo:TP53 | biliary tract disease:TP53 | thyroid gland disease:TP53 | kidney disease:TNFSF13 | purpura:TNFSF13 | hepatitis B:TP53 | alopecia:TNFSF13 | collagen disease:TNFSF13 | nephritis:TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | keratoconjunctivitis sicca:TP53 | keratoconjunctivitis:TP53 | bacterial infectious disease:TP53 | dry eye syndrome:TP53 | lacrimal apparatus disease:TP53 | rheumatic disease:TNFSF13 | systemic scleroderma:TNFSF13 | scleroderma:TNFSF13 | male reproductive system disease:TP53 | male infertility:TP53 | peptic ulcer disease:TP53 | integumentary system disease:TNFSF13,TP53 | Human immunodeficiency virus infectious disease:TP53 | hematopoietic system disease:TNFSF13,TP53 | colon carcinoma:EFNB3,TNFSF13,TP53 | intestinal cancer:EFNB3,TNFSF13,TP53 | reproductive system disease:TP53 | germ cell and embryonal cancer:TP53 | sporadic breast cancer:TP53 | malignant glioma:ATP1B2,TP53 | mammary Paget's disease:TP53 | open-angle glaucoma:TP53 | varicose veins:TP53 | influenza:TP53 | astrocytoma:TP53 | gastritis:TP53 | breast adenocarcinoma:TP53 | myopathy:TNFSF13,TP53 | muscle tissue disease:TNFSF13,TP53 | neuropathy:TP53 | tuberculosis:TP53 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF13,TP53 | alopecia areata:TNFSF13 | chronic leukemia:TP53 | cell type benign neoplasm:TP53 | teratoma:TP53 | Alzheimer's disease:DLG4,TP53 | non-small cell lung carcinoma:EIF5A,TNFSF13,TP53 | colon cancer:EFNB3,TNFSF13,TP53 | tauopathy:DLG4,TP53 | cholangitis:TP53 | colorectal cancer:EFNB3,TNFSF13,TP53 | stomach disease:TP53 | large intestine cancer:EFNB3,TNFSF13,TP53 | gallbladder carcinoma:TP53 | esophagus squamous cell carcinoma:TP53 | gallbladder cancer:TP53 | infertility:TP53 | neurofibroma:TP53 | anemia:TP53 | myositis:TNFSF13 | lower respiratory tract disease:TP53 | lung adenocarcinoma:EIF5A,TP53 | cardiomyopathy:TP53 | keratoacanthoma:TP53 | primary immunodeficiency disease:TP53 | liver cirrhosis:TNFSF13,TP53 | gallbladder disease:TP53 | pleural cancer:TP53 | malignant pleural mesothelioma:TP53 | esophageal carcinoma:TP53 | mouth disease:TP53 | lung disease:TP53 | chronic lymphocytic leukemia:TNFSF13,TP53 | female reproductive organ cancer:TP53 | ataxia telangiectasia:TP53 | vein disease:TP53 | dilated cardiomyopathy:TP53 | adenoma:TP53 | acute myocardial infarction:TP53 | gastric adenocarcinoma:TP53 | coronary artery disease:TP53 | integumentary system cancer:TP53 | skin cancer:TP53 | T cell costimulation:EFNB3 | lymphocyte costimulation:EFNB3 | positive regulation of leukocyte cell-cell adhesion:EFNB3 | positive regulation of cell-cell adhesion:EFNB3 | positive regulation of cell activation:EFNB3,TNFSF13 | positive regulation of T cell activation:EFNB3 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF13 | positive regulation of cell adhesion:EFNB3 | positive regulation of lymphocyte activation:EFNB3,TNFSF13 | positive regulation of leukocyte activation:EFNB3,TNFSF13 | regulation of leukocyte activation:EFNB3,TNFSF13 | regulation of lymphocyte activation:EFNB3,TNFSF13 | postsynaptic membrane organization:DLG4 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of cell-cell adhesion:EFNB3 | regulation of DNA biosynthetic process:TP53,WRAP53 | regulation of leukocyte cell-cell adhesion:EFNB3 | regulation of telomerase activity:TP53,WRAP53 | cellular response to tumor necrosis factor:TNFSF13 | DNA biosynthetic process:TP53,WRAP53 | regulation of T cell activation:EFNB3 | T cell activation:EFNB3 | locomotory exploration behavior:DLG4 | replicative senescence:TP53 | response to tumor necrosis factor:TNFSF13 | leukocyte cell-cell adhesion:EFNB3 | regulation of immune effector process:TNFSF13 | telomere maintenance via telomerase:WRAP53 | RNA-dependent DNA biosynthetic process:WRAP53 | positive regulation of cell cycle process:TP53 | telomere maintenance via telomere lengthening:WRAP53 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | positive regulation of excitatory postsynaptic potential:DLG4 | B cell mediated immunity:TNFSF13 | exploration behavior:DLG4 | positive regulation of adaptive immune response:TNFSF13 | regulation of cell cycle G2/M phase transition:TP53 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:DLG4 | interaction with host:EFNB3 | nucleocytoplasmic transport:EIF5A,TP53 | protein localization to synapse:DLG4 | nuclear transport:EIF5A,TP53 | positive regulation of DNA metabolic process:TNFSF13,WRAP53 | chemical synaptic transmission, postsynaptic:DLG4 | modulation of excitatory postsynaptic potential:DLG4 | regulation of glutamate receptor signaling pathway:DLG4 | negative regulation of DNA biosynthetic process:TP53 | positive regulation of telomerase activity:WRAP53 | positive regulation of reactive oxygen species metabolic process:EIF5A,TP53 | protein stabilization:ATP1B2 | positive regulation of cell cycle:TP53 | negative regulation of growth:TP53 | peptidyl-tyrosine phosphorylation:TP53 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TP53 | regulation of neurotransmitter receptor activity:DLG4 | regulation of DNA metabolic process:TNFSF13,TP53,WRAP53 | negative regulation of neurogenesis:EFNB3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TP53 | cell cycle G2/M phase transition:TP53 | protein N-linked glycosylation via asparagine:ASGR1 | regulation of postsynaptic membrane potential:DLG4 | synapse organization:DLG4 | peptidyl-asparagine modification:ASGR1 | positive regulation of cellular amide metabolic process:EIF5A | neuromuscular process controlling balance:DLG4 | regulation of mitotic cell cycle phase transition:TP53 | negative regulation of nervous system development:EFNB3 | regulation of adaptive immune response:TNFSF13 | negative regulation of axonogenesis:EFNB3 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:ASGR1,DLG4 | regulation of lymphocyte apoptotic process:TP53 | mitochondrial outer membrane permeabilization:TP53 | protein localization to nucleoplasm:WRAP53 | regulation of protein stability:ATP1B2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | telomere maintenance:WRAP53 | negative regulation of cell development:EFNB3 | regulation of cell cycle phase transition:TP53 | aging:EIF5A,TP53 | negative regulation of cell growth:TP53 | protein export from nucleus:EIF5A,TP53 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:TP53 | protein localization to nucleus:CTDNEP1,WRAP53 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | telomere organization:WRAP53 | mitochondrial outer membrane permeabilization involved in programmed cell death:TP53 | glycerolipid metabolic process:CTDNEP1 | positive regulation of mitochondrial membrane permeability:TP53 | positive regulation of DNA biosynthetic process:WRAP53 | regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | positive regulation of membrane permeability:TP53 | regulation of DNA-templated transcription in response to stress:TP53 | mRNA catabolic process:TNFSF13 | lymphocyte apoptotic process:TP53 | triglyceride metabolic process:CTDNEP1 | protein N-linked glycosylation:ASGR1 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | positive regulation of protein complex assembly:TP53 | locomotory behavior:DLG4,EFNB3 | cellular response to UV:TP53 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | negative regulation of neuron differentiation:EFNB3 | protein localization to chromosome:WRAP53 | nuclear export:EIF5A,TP53 | glutamate receptor signaling pathway:DLG4 | regulation of mitochondrial membrane permeability:TP53 | negative regulation of cell morphogenesis involved in differentiation:EFNB3 | execution phase of apoptosis:TP53 | regulation of leukocyte apoptotic process:TP53 | mitochondrial membrane organization:TP53 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | acylglycerol metabolic process:CTDNEP1 | potassium ion homeostasis:ATP1B2 | neutral lipid metabolic process:CTDNEP1 | positive regulation of leukocyte mediated immunity:TNFSF13 | DNA geometric change:TP53 | regulation of receptor internalization:DLG4 | cellular response to extracellular stimulus:ASGR1,TP53 | regulation of membrane permeability:TP53 | ephrin receptor signaling pathway:EFNB3 | regulation of fibroblast proliferation:TP53 | regulation of ion transmembrane transporter activity:ATP1B2,DLG4 | fibroblast proliferation:TP53 | regulation of apoptotic signaling pathway:TP53 | regulation of transmembrane transporter activity:ATP1B2,DLG4 | RNA catabolic process:TNFSF13 | negative regulation of hydrolase activity:TP53 | regulation of endocytosis:DLG4 | neuromuscular process:DLG4 | regulation of membrane potential:ATP1B2,DLG4 | negative regulation of receptor-mediated endocytosis:DLG4 | autophagy:TP53 | process utilizing autophagic mechanism:TP53 | cell aging:TP53 | leukocyte apoptotic process:TP53 | regulation of transporter activity:ATP1B2,DLG4 | vocalization behavior:DLG4 | RNA localization to Cajal body:WRAP53 | telomerase RNA localization to Cajal body:WRAP53 | telomerase RNA localization:WRAP53 | RNA localization to nucleus:WRAP53 | regulation of canonical Wnt signaling pathway:CTDNEP1 | cellular response to light stimulus:TP53 | axonogenesis:EFNB3 | 0.00545357 | 0.0293276 | 0.0693056123354646 | 0.0234353 | 0.0263274 | 0.427657072364042 | -0.0362169 | 0.0582967 | 0.272105920400255 | -0.00862776 | 0.0322656 | 0.10281897673028 | -0.0118423 | 0.0347101 | 0.134882398324256 | -7.3506E-4 | 0.0659255 | 0.00387945651265892 | 0.0380424 | 0.0240585 | 0.943190399126 | 0.0155448 | 0.0273413 | 0.244308805911578 | 0.0821324 | 0.0461383 | 1.12215314896543 | 0.00476767 | 0.0173129 | 0.106226035714243 | 0.00392993 | 0.0216548 | 0.0675313088861492 | 0.00413992 | 0.0276919 | 0.0549452257445605 | -0.0684107 | 0.017079 | 4.20847004861699 | -0.106121 | 0.0179819 | 8.44362994756719 | -0.0092353 | 0.0289933 | 0.124891256340486 | -0.0226057 | 0.0165817 | 0.762481395366893 | -0.0457212 | 0.0204122 | 1.60036780667 | 0.0165528 | 0.0265319 | 0.273512411620996 | -0.00193618 | 0.00994001 | 0.0728555699179477 | -0.0106633 | 0.0128797 | 0.389637984460036 | 0.00848036 | 0.0154885 | 0.233573767305058 | -0.032811 | 0.0484805 | 0.302231176618568 | 0.0444739 | 0.0602573 | 0.336669466201851 | -0.180792 | 0.0813008 | 1.57687869630666 | ||
19:48461878:TA:AA | 19 | 48461878 | 19q13.33 | AA | TA | 0.987 | 0 | DHEAS WOMEN | 3358 | 8.42945939504095 | 0.184642108397856 | 0.0134996 | BSPH1 (9.4 kb); ELSPBP1 (36 kb); CABP5 (71 kb); SULT2A1 (72 kb) | NA | Chemical carcinogenesis:SULT2A1 | Metabolism of xenobiotics by cytochrome P450:SULT2A1 | Bile secretion:SULT2A1 | Biological oxidations:SULT2A1 | Phase II - Conjugation of compounds:SULT2A1 | polycystic ovary syndrome:SULT2A1 | steroid catabolic process:SULT2A1 | steroid metabolic process:SULT2A1 | sulfur compound metabolic process:SULT2A1 | sperm capacitation:BSPH1,ELSPBP1 | -0.0254465 | 0.0217346 | 0.616504191300001 | -0.0238657 | 0.0196694 | 0.647410401020374 | -0.027133 | 0.0435974 | 0.272695473573814 | -0.0628073 | 0.0238802 | 2.06553992996473 | -0.0361346 | 0.0259213 | 0.786370695445032 | -0.118155 | 0.0480442 | 1.84896741824356 | -0.00279777 | 0.0178462 | 0.0577731176991547 | 0.0253162 | 0.0204229 | 0.666879324871848 | -0.0586966 | 0.0337708 | 1.08286119606612 | -0.0726302 | 0.012952 | 7.68806822058123 | -0.0311999 | 0.016267 | 1.25875461627826 | -0.12152 | 0.02061 | 8.42945939504095 | 0.00424598 | 0.0127855 | 0.130875106373457 | 0.0245221 | 0.0135583 | 1.15176160416117 | -0.0221085 | 0.0215495 | 0.515814088902006 | 0.0439357 | 0.0124631 | 3.37359187565124 | 0.0430288 | 0.0153519 | 2.29537853766733 | 0.0324202 | 0.0198929 | 0.986501296452583 | -0.0138206 | 0.00743937 | 1.19926093268027 | 5.53465E-4 | 0.00967151 | 0.0202854961876602 | -0.0301708 | 0.0115536 | 2.04490710648057 | -0.0195538 | 0.0359637 | 0.231581691091467 | -0.0173855 | 0.0449926 | 0.155362556295755 | -0.0174731 | 0.059973 | 0.11301716532431 | |||
rs11078696:7459299:G:T | 17 | 7459299 | 17p13.1 | T | G | 0.869 | 9 | TESTO MEN | 4291 | 8.41833473328238 | 0.805436028897693 | 0.0892386 | TNFSF12 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); TNFSF12-TNFSF13 (0 kb, intron/Intron/MODIFIER); TNFSF13 (2.3 kb, near gene/Upstream gene/MODIFIER); SENP3 (5.9 kb); SENP3-EIF4A1 (7.3 kb); EIF4A1 (17 kb); SNORA67 (17 kb); SNORA48 (19 kb); SNORD10 (21 kb); CD68 (23 kb); MPDU1 (28 kb); SOX15 (32 kb); FXR2 (35 kb); POLR2A (41 kb) | 0.565 IgA nephropathy // 0.565 Non-albumin protein levels // 0.565 IgA levels // 0.565 Albumin-globulin ratio // 0.319 Hormone measurements | - | AC113189.5 | ACAP1 | ASGR1 | ATP1B2 | C17orf81 | CD68 | CHRNB1 | CTC1 | CTDNEP1 | EIF4A1 | EIF5A | FGF11 | KCNAB3 | KDM6B | MPDU1 | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SENP3-EIF4A1 | SLC35G6 | SNORA48 | SOX15 | TMEM102 | TMEM88 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TRAPPC1 | TXNDC17 | ZBTB4 | EIF4A1P2 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Thyroid hormone synthesis:ATP1B2 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | Aldosterone synthesis and secretion:ATP1B2 | RNA transport:EIF4A1,FXR2 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Asparagine N-linked glycosylation:MPDU1 | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | malignant glioma:ATP1B2 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13,TXNDC17 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13,TXNDC17 | response to tumor necrosis factor:TNFSF12,TNFSF13,TXNDC17 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | protein stabilization:ATP1B2 | positive regulation of cell cycle:SOX15 | regulation of lymphocyte mediated immunity:TNFSF13 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13 | negative regulation of translation:FXR2,POLR2A | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:FXR2,POLR2A | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | regulation of protein stability:ATP1B2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | aging:EIF5A | protein export from nucleus:EIF5A | mRNA catabolic process:EIF4A1,TNFSF13 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | potassium ion homeostasis:ATP1B2 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of ion transmembrane transporter activity:ATP1B2 | regulation of apoptotic signaling pathway:TNFSF12 | regulation of transmembrane transporter activity:ATP1B2 | RNA catabolic process:EIF4A1,TNFSF13 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:ATP1B2,CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | regulation of striated muscle tissue development:SOX15 | regulation of transporter activity:ATP1B2 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | DNA-templated transcription, termination:POLR2A | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | 0.0189696 | 0.023098 | 0.385536240574177 | -0.0176514 | 0.0207833 | 0.40245837967472 | 0.094997 | 0.0448677 | 1.46550176018275 | 0.0318466 | 0.0254066 | 0.677421010262721 | 0.0058851 | 0.0274008 | 0.0809365587692399 | 0.0836881 | 0.0516595 | 0.976011304936836 | 0.00930271 | 0.0189614 | 0.204987352582481 | 0.00665178 | 0.021585 | 0.120329648473728 | 0.0168655 | 0.0362965 | 0.1922492312272 | 0.00185801 | 0.0134423 | 0.0505777884415405 | 0.00621618 | 0.0168885 | 0.147020123550609 | -0.00175201 | 0.021389 | 0.0293198585844291 | 0.0514469 | 0.0133005 | 3.95973399255392 | 0.0827127 | 0.0140382 | 8.41833473328238 | 0.0139392 | 0.0224993 | 0.27119024528172 | 0.0275416 | 0.0129099 | 1.48287671054028 | 0.053024 | 0.0158715 | 3.07818351568983 | -0.0057029 | 0.0206153 | 0.106759371070337 | 0.00507575 | 0.00773027 | 0.291210403565152 | 0.00935136 | 0.0100604 | 0.452693058901958 | -4.64115E-4 | 0.0119808 | 0.0136318545720302 | -0.0422176 | 0.0381736 | 0.570430194298615 | -0.0308744 | 0.0474675 | 0.28774858422345 | -0.0643895 | 0.0642486 | 0.499480859081369 | |
rs73729220:32342119:A:G | 6 | 32342119 | 6p21.32 | G | A | 0.999 | 2 | OHP17 ALL | 2070 | 8.40417983156669 | 0.0159408212560386 | C6orf10 (2.4 kb, near gene/Upstream gene/MODIFIER); HCG23 (16 kb); BTNL2 (20 kb); RNU6-603P (21 kb); HNRNPA1P2 (48 kb) | 0.945 Marginal zone lymphoma // 0.767 Blood protein levels | - | ABHD16A | AGER | AIF1 | APOM | ATF6B | ATP6V1G2 | BAG6 | BRD2 | BTNL2 | C4A | C4B | C4B 2 | C6orf10 | C6orf25 | C6orf48 | CFB | CLIC1 | CSNK2B | CUTA | CYP21A2 | DDAH2 | DDR1 | DDX39B | DOM3Z | DXO | FLOT1 | GPANK1 | GPSM3 | HCG23 | HCG27 | HCP5 | HLA-B | HLA-C | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DPB1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB1-AS1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HLA-DRB9 | HSPA1A | HSPA1B | HSPA1L | IER3 | LINC00243 | LSM2 | LST1 | LTA | LY6G5B | LY6G5C | MCCD1 | MIR6891 | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | NOTCH4 | PHF1 | PPT2 | PRRC2A | PRRT1 | PSMB9 | RDBP | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TAPBP | TNF | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG154L12.4 | XXbac-BPG181B23.7 | XXbac-BPG254F23.6 | ZBTB12 | ABP1 | EXOC1 | FLOT1 | HLA-A | HLA-C | IER3 | LIMS1 | LINC00243 | TRIM26 | TUBB | unnamed | VARS2 | XRCC6 | ZNF672 | ZNRD1 | Type I diabetes mellitus:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Allograft rejection:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graft-versus-host disease:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Antigen processing and presentation:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Viral myocarditis:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Staphylococcus aureus infection:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Asthma:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phagosome:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Herpes simplex infection:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,TAP2 | Intestinal immune network for IgA production:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Rheumatoid arthritis:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Inflammatory bowel disease (IBD):HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Toxoplasmosis:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Cell adhesion molecules (CAMs):HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Leishmaniasis:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Influenza A:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Epstein-Barr virus infection:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th1 and Th2 cell differentiation:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Th17 cell differentiation:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Tuberculosis:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C | Proteasome:PSMB9 | Translocation of ZAP-70 to Immunological synapse:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Phosphorylation of CD3 and TCR zeta chains:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Interferon gamma signaling:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | PD-1 signaling:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Generation of second messenger molecules:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Downstream TCR signaling:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | Interferon Signaling:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | TCR signaling:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | MHC class II antigen presentation:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Costimulation by the CD28 family:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,PSMB9,TAP2 | Antigen processing-Cross presentation:HLA-C,PSMB9,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B,PSMB9 | TNFR2 non-canonical NF-kB pathway:PSMB9 | Butyrophilin (BTN) family interactions:BTNL2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | HIV Infection:PSMB9 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B,PSMB9 | Class I MHC mediated antigen processing & presentation:HLA-C,PSMB9,TAP2 | Transcriptional regulation by RUNX3:PSMB9 | Vpu mediated degradation of CD4:PSMB9 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B,PSMB9 | SCF-beta-TrCP mediated degradation of Emi1:PSMB9 | NIK-->noncanonical NF-kB signaling:PSMB9 | Dectin-1 mediated noncanonical NF-kB signaling:PSMB9 | Degradation of GLI1 by the proteasome:PSMB9 | Degradation of GLI2 by the proteasome:PSMB9 | GLI3 is processed to GLI3R by the proteasome:PSMB9 | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Regulation of PTEN stability and activity:PSMB9 | Influenza Infection:HSPA1A,HSPA1B | Defective CFTR causes cystic fibrosis:PSMB9 | ABC-family proteins mediated transport:PSMB9 | Activation of NF-kappaB in B cells:PSMB9 | G2/M Transition:PSMB9 | Mitotic G2-G2/M phases:PSMB9 | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | The role of GTSE1 in G2/M progression after G2 checkpoint:PSMB9 | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B | Regulation of APC/C activators between G1/S and early anaphase:PSMB9 | ABC transporter disorders:PSMB9 | Cyclin A:Cdk2-associated events at S phase entry:PSMB9 | Interleukin-1 family signaling:AGER,PSMB9 | Degradation of beta-catenin by the destruction complex:PSMB9 | FCERI mediated NF-kB activation:PSMB9 | Cyclin E associated events during G1/S transition :PSMB9 | Downstream signaling events of B Cell Receptor (BCR):PSMB9 | Influenza Life Cycle:HSPA1A,HSPA1B | APC/C-mediated degradation of cell cycle proteins:PSMB9 | Regulation of mitotic cell cycle:PSMB9 | Cross-presentation of soluble exogenous antigens (endosomes):PSMB9 | Regulation of activated PAK-2p34 by proteasome mediated degradation:PSMB9 | Regulation of ornithine decarboxylase (ODC):PSMB9 | CDK-mediated phosphorylation and removal of Cdc6:PSMB9 | Ubiquitin-dependent degradation of Cyclin D1:PSMB9 | Ubiquitin-dependent degradation of Cyclin D:PSMB9 | Autodegradation of the E3 ubiquitin ligase COP1:PSMB9 | Regulation of Apoptosis:PSMB9 | Ubiquitin Mediated Degradation of Phosphorylated Cdc25A:PSMB9 | p53-Independent DNA Damage Response:PSMB9 | p53-Independent G1/S DNA damage checkpoint:PSMB9 | Vif-mediated degradation of APOBEC3G:PSMB9 | FBXL7 down-regulates AURKA during mitotic entry and in early mitosis:PSMB9 | C-type lectin receptors (CLRs):PSMB9 | Degradation of AXIN:PSMB9 | Regulation of RUNX3 expression and activity:PSMB9 | Hh mutants that don't undergo autocatalytic processing are degraded by ERAD:PSMB9 | Degradation of DVL:PSMB9 | Stabilization of p53:PSMB9 | CLEC7A (Dectin-1) signaling:PSMB9 | Hh mutants abrogate ligand secretion:PSMB9 | CDT1 association with the CDC6:ORC:origin complex:PSMB9 | SCF(Skp2)-mediated degradation of p27/p21:PSMB9 | Regulation of expression of SLITs and ROBOs:PSMB9 | Cytosolic sensors of pathogen-associated DNA :AGER | Autodegradation of Cdh1 by Cdh1:APC/C:PSMB9 | Asymmetric localization of PCP proteins:PSMB9 | Hedgehog ligand biogenesis:PSMB9 | Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha:PSMB9 | p53-Dependent G1 DNA Damage Response:PSMB9 | p53-Dependent G1/S DNA damage checkpoint:PSMB9 | APC/C:Cdc20 mediated degradation of Securin:PSMB9 | Hedgehog 'off' state:PSMB9 | Kawasaki disease:HLA-C,HLA-DRB1,PRRC2A,BTNL2 | lymphadenitis:HLA-C,HLA-DRB1,PRRC2A,BTNL2 | lymph node disease:HLA-C,HLA-DRB1,PRRC2A,BTNL2 | lymphatic system disease:HLA-C,HLA-DRB1,PRRC2A,BTNL2 | leprosy:BTNL2,HLA-DRB1 | sarcoidosis:AGER,BTNL2,HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:AGER,BTNL2,HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:BTNL2,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | endocrine system disease:AGER,HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:BTNL2,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HLA-C,HLA-DQA1,HLA-DRB1,AGER | primary bacterial infectious disease:BTNL2,HLA-DRB1,PSMB9,TAP2 | hepatitis:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRB1,NCR3,PSMB9 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | vitiligo:HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:BTNL2,HLA-DRB1,PSMB9,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,PRRC2A,TAP2 | malaria:HLA-DRB1,NCR3,PRRC2A | hair disease:HLA-DQA1 | pulmonary sarcoidosis:HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:TAP2,PSMB9 | duodenal ulcer:HSPA1A | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRB1,PSMB9 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3,PRRC2A | urinary system disease:AGER,AIF1,HLA-DQA1,HLA-DRB1,HSPA1A,LIMS1 | multiple myeloma:NCR3 | myeloma:NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:HLA-DRB1 | kidney disease:AGER,AIF1,HLA-DQA1,HLA-DRB1,HSPA1A,LIMS1 | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:AGER,AIF1,HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:AGER,HLA-DRB1,HSPA1B | nephritis:AIF1,HLA-DQA1,HLA-DRB1 | periodontitis:AGER | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | gestational diabetes:AGER | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:AGER,AIF1,HLA-DRB1,TAP2 | systemic scleroderma:AGER,AIF1,HLA-DRB1,TAP2 | scleroderma:AGER,AIF1,HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | periodontal disease:AGER | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:AGER,HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:BTNL2,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | aortic valve disease:AGER | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | tooth disease:AGER | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B,AGER | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:AGER,HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:AGER,HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L,PSMB9 | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:AGER,HLA-DQA1,HLA-DRA | mouth disease:AGER | Sjogren's syndrome:AGER,PSMB9 | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:BTNL2,HSPA1B | lung disease:AGER,HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | heart valve disease:AGER | pulmonary edema:HSPA1A | aortic valve stenosis:AGER | myositis:AGER,HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,BTNL2 | myopathy:AGER,HLA-DRB1 | muscle tissue disease:AGER,HLA-DRB1 | nasopharynx carcinoma:HSPA1B | pharynx cancer:HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:AGER,HLA-DRB1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1 | retinal disease:AGER,HLA-DRB1,TAP2 | skin disease:HLA-DRB1 | female reproductive organ cancer:HLA-DQA1,HLA-DRB1 | pulmonary fibrosis:AGER | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | coronary artery disease:AGER | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:HLA-DQA1,HLA-DRB1 | ovarian carcinoma:HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | antigen processing and presentation:HLA-C,HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | cellular response to interferon-gamma:AIF1,HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | response to interferon-gamma:AIF1,HLA-C,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DOB,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell receptor signaling pathway:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-activating signal transduction:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,HSPA1A,HSPA1B,NCR3,PSMB9 | T cell costimulation:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | immune response-activating cell surface receptor signaling pathway:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB9 | lymphocyte costimulation:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen receptor-mediated signaling pathway:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,PSMB9 | immune response-regulating cell surface receptor signaling pathway:HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,NCR3,PSMB9 | positive regulation of cell-cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of leukocyte cell-cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of T cell activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | T cell activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of cell-cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,PSMB9,TAP2 | regulation of leukocyte cell-cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,PSMB9,TAP2 | positive regulation of cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LIMS1 | positive regulation of lymphocyte activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | positive regulation of cell activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of lymphocyte activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | regulation of T cell activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | regulation of leukocyte activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5,LST1 | leukocyte cell-cell adhesion:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,PSMB9,TAP2 | positive regulation of leukocyte activation:AGER,AIF1,HLA-DPA1,HLA-DQA1,HLA-DRA,HLA-DRB1,HLA-DRB5 | lymphocyte mediated immunity:AGER,NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:AGER,NCR3 | adaptive immune response:AGER,NCR3,TAP2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3,AGER | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B,LIMS1,PSMB9 | leukocyte mediated cytotoxicity:NCR3,AGER | positive regulation of defense response:GPSM3,HSPA1A,HSPA1B,NCR3,PSMB9 | positive regulation of cytokine production:AGER,GPSM3,HLA-DPA1,HSPA1A,HSPA1B | T cell mediated immunity:AGER,NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:AGER,NCR3 | positive regulation of innate immune response:HSPA1A,HSPA1B,NCR3,PSMB9 | positive regulation of T cell proliferation:AGER,AIF1,HLA-DPA1 | regulation of lymphocyte mediated immunity:NCR3,AGER | NIK/NF-kappaB signaling:AGER,LIMS1,PSMB9 | regulation of innate immune response:HSPA1A,HSPA1B,NCR3,PSMB9 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB9 | regulation of T cell proliferation:AGER,AIF1,HLA-DPA1 | negative regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB9 | cell killing:NCR3,AGER | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:AGER,AIF1,HLA-DPA1,LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:AGER,AIF1,HLA-DPA1,LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | interferon-gamma production:HLA-DPA1 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB9 | regulation of leukocyte proliferation:AGER,AIF1,HLA-DPA1,LST1 | mRNA catabolic process:HSPA1A,HSPA1B,PSMB9 | response to tumor necrosis factor:HSPA1A,HSPA1B,LIMS1,PSMB9 | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:AIF1 | positive regulation of nitric oxide metabolic process:AIF1 | regulation of leukocyte mediated immunity:NCR3,AGER | activation of innate immune response:HSPA1A,HSPA1B,PSMB9 | regulation of T cell mediated cytotoxicity:AGER,NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | T cell proliferation:AGER,AIF1,HLA-DPA1 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of lymphocyte proliferation:AGER,AIF1,HLA-DPA1 | positive regulation of mononuclear cell proliferation:AGER,AIF1,HLA-DPA1 | regulation of leukocyte mediated cytotoxicity:AGER,NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A,PSMB9 | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B,PSMB9 | positive regulation of ubiquitin protein ligase activity:PSMB9 | RNA catabolic process:HSPA1A,HSPA1B,PSMB9 | positive regulation of leukocyte proliferation:AGER,AIF1,HLA-DPA1 | positive regulation of reactive oxygen species biosynthetic process:AIF1 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:HSPA1A,HSPA1B,PSMB9 | regulation of ubiquitin protein ligase activity:PSMB9 | regulation of nitric oxide biosynthetic process:AIF1 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3,AGER | lymphocyte proliferation:AGER,AIF1,HLA-DPA1,LST1 | mononuclear cell proliferation:AGER,AIF1,HLA-DPA1,LST1 | positive regulation of interleukin-12 production:AGER | regulation of cell killing:AGER,NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B,PSMB9 | regulation of interleukin-8 production:HSPA1A,HSPA1B | regulation of antigen processing and presentation:HLA-DOB | RNA phosphodiester bond hydrolysis:HSPA1A | regulation of dendritic cell differentiation:AGER | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3,AGER | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:AGER,AIF1,HLA-DPA1,LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B,AGER | regulation of protein stability:HSPA1A,HSPA1B | positive regulation of interferon-gamma production:HLA-DPA1 | nitric oxide biosynthetic process:AIF1 | interleukin-8 production:HSPA1A,HSPA1B | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | positive regulation of ubiquitin-protein transferase activity:PSMB9 | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | nucleocytoplasmic transport:AGER | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | nitric oxide metabolic process:AIF1 | nuclear transport:AGER | natural killer cell activation:NCR3 | reactive nitrogen species metabolic process:AIF1 | positive regulation of mononuclear cell migration:AIF1 | cellular response to topologically incorrect protein:HSPA1A | protein stabilization:HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | positive regulation of smooth muscle cell proliferation:AIF1 | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | mRNA cleavage:HSPA1A | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:AIF1 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A,PSMB9 | regulation of reactive oxygen species biosynthetic process:AIF1 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process:PSMB9 | protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition:PSMB9 | response to endoplasmic reticulum stress:HSPA1A | positive regulation of immune effector process:NCR3 | stimulatory C-type lectin receptor signaling pathway:PSMB9 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | regulation of ubiquitin-protein transferase activity:PSMB9 | pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | innate immune response activating cell surface receptor signaling pathway:PSMB9 | response to isoquinoline alkaloid:AIF1 | response to morphine:AIF1 | positive regulation of T cell mediated immunity:NCR3 | positive regulation of NIK/NF-kappaB signaling:AGER,LIMS1 | spindle assembly:HSPA1A,HSPA1B | regulation of interleukin-12 production:AGER | nucleic acid phosphodiester bond hydrolysis:HSPA1A | interleukin-12 production:AGER | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of response to endoplasmic reticulum stress:HSPA1A | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:AIF1 | negative regulation of immune system process:HLA-DOB,LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:HSPA1A,PSMB9 | positive regulation of NF-kappaB import into nucleus:AGER | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | post-translational protein modification:PSMB9 | regulation of T cell mediated immunity:AGER,NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | receptor-mediated endocytosis:AGER | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process:PSMB9 | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:LY6G5B,LY6G5C | regulation of interferon-gamma production:HLA-DPA1 | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | protein localization to nucleus:AGER | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:HSPA1A,PSMB9 | regulation of mononuclear cell migration:AIF1 | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:HSPA1A,PSMB9 | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:HSPA1A,PSMB9 | microglial cell activation:AGER,AIF1 | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | phagocytosis:AIF1 | mRNA cleavage involved in mRNA processing:HSPA1A | response to ammonium ion:AIF1 | microtubule polymerization:HSPA1A,HSPA1B | regulation of inflammatory response:AGER,GPSM3 | synapsis:MSH5 | macrophage activation:AGER,AIF1 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:HSPA1A,PSMB9 | positive regulation of cellular catabolic process:HSPA1A,PSMB9 | regulation of transcription factor import into nucleus:AGER | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | regulation of smooth muscle cell proliferation:AIF1 | negative regulation of growth:HSPA1A,HSPA1B | transcription factor import into nucleus:AGER | regulation of binding:AGER | regulation of mRNA metabolic process:HSPA1A,PSMB9 | regulation of NIK/NF-kappaB signaling:AGER,LIMS1 | smooth muscle cell proliferation:AIF1 | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | regulation of RNA stability:HSPA1A,PSMB9 | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | regulation of cellular amino acid metabolic process:PSMB9 | positive regulation of cellular component biogenesis:HSPA1A,HSPA1B | regulation of cellular protein catabolic process:HSPA1A,PSMB9 | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | glial cell activation:AGER,AIF1 | protein polymerization:AIF1,HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | regulation of mitotic cell cycle phase transition:AIF1,PSMB9 | mitochondrial membrane organization:HSPA1A | reactive oxygen species metabolic process:AIF1 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | protein polyubiquitination:PSMB9 | cellular response to ammonium ion:AIF1 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:HSPA1A | homologous chromosome segregation:MSH5 | positive regulation of cell junction assembly:LIMS1 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of macrophage activation:AGER | regulation of mRNA catabolic process:HSPA1A,PSMB9 | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | cellular amino acid metabolic process:PSMB9 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B,AGER | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | ruffle assembly:AIF1 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | regulation of protein catabolic process:HSPA1A | platelet activation:MPIG6B | negative regulation of mitotic cell cycle:PSMB9 | Fc-epsilon receptor signaling pathway:PSMB9 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle:PSMB9 | chromosome organization involved in meiotic cell cycle:MSH5 | negative regulation of chemotaxis:AIF1 | regulation of cell cycle phase transition:AIF1,PSMB9 | positive regulation of protein ubiquitination:PSMB9 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:AIF1,HSPA1A,HSPA1B | G2/M transition of mitotic cell cycle:PSMB9 | protein complex localization:AGER | regulation of reactive oxygen species metabolic process:AIF1 | negative regulation of ubiquitin protein ligase activity:PSMB9 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | regulation of response to endoplasmic reticulum stress:HSPA1A | regulation of leukocyte chemotaxis:AIF1,GPSM3 | response to unfolded protein:HSPA1A,HSPA1L | regulation of transcription from RNA polymerase II promoter in response to hypoxia:PSMB9 | response to oxidative stress:AIF1,HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of cellular amine metabolic process:PSMB9 | smooth muscle cell migration:AIF1 | negative regulation of leukocyte activation:LST1 | cell cycle G2/M phase transition:PSMB9 | anaphase-promoting complex-dependent catabolic process:PSMB9 | regulation of G2/M transition of mitotic cell cycle:PSMB9 | 0.0802508 | 0.0665854 | 0.641585408382236 | 0.123122 | 0.0637639 | 1.2700022614142 | 0.0524157 | 0.121885 | 0.175766745202407 | 0.429629 | 0.0726698 | 8.40417983156669 | 0.231409 | 0.0839259 | 2.22868229167923 | 0.670827 | 0.132785 | 6.25410816033881 | 0.111271 | 0.0546195 | 1.37926655025497 | 0.0712337 | 0.0662708 | 0.548801717985916 | 0.143544 | 0.0946484 | 0.88667846782167 | -0.00825524 | 0.0392273 | 0.0791887159769551 | -0.027027 | 0.0477944 | 0.242798384273578 | 0.00762161 | 0.0650494 | 0.0425229729347477 | 0.0354343 | 0.0400428 | 0.424575436701697 | 0.0844757 | 0.0372193 | 1.63400314051579 | 0.148155 | 0.044657 | 3.04197155101843 | -0.0201412 | 0.0601273 | 0.132153185789468 | 0.00309556 | 0.022496 | 0.0503402290108475 | 0.0278724 | 0.0358724 | 0.359354615513114 | 0.214443 | 0.108658 | 1.31363547318968 | 0.225918 | 0.145235 | 0.920598043683183 | 0.212413 | 0.163224 | 0.71314624499494 | |||||||||||
rs67836407:22292089:GAGGTT:G | 13 | 22292089 | 13q12.11 | G | GAGGTT | 0.942 | 0 | DHEAS ALL | 7659 | 8.30250998438206 | 0.60716359838099 | 2.61951 | FGF9 (13 kb); RN7SL766P (73 kb); RPS7P10 (89 kb); MICU2 (110 kb) | NA | EFHA1 | Regulation of actin cytoskeleton:FGF9 | endocrine system disease:FGF9 | gonadal dysgenesis:FGF9 | gonadal disease:FGF9 | organ growth:FGF9 | nucleocytoplasmic transport:FGF9 | nuclear transport:FGF9 | regulation of activin receptor signaling pathway:FGF9 | cellular response to fibroblast growth factor stimulus:FGF9 | lipid modification:FGF9 | response to fibroblast growth factor:FGF9 | protein localization to nucleus:FGF9 | regulation of cardiac muscle tissue growth:FGF9 | smoothened signaling pathway:FGF9 | regulation of heart growth:FGF9 | activin receptor signaling pathway:FGF9 | regulation of protein kinase B signaling:FGF9 | regulation of cardiac muscle tissue development:FGF9 | cardiac muscle tissue growth:FGF9 | regulation of striated muscle tissue development:FGF9 | regulation of muscle tissue development:FGF9 | heart growth:FGF9 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:FGF9 | regulation of organ growth:FGF9 | -0.01979 | 0.017939 | 0.568514007188591 | -0.0210363 | 0.0162 | 0.711475793420152 | -0.0300158 | 0.0351734 | 0.405103827537793 | -0.0157918 | 0.019739 | 0.372854419339517 | -0.017216 | 0.0213609 | 0.376327995287708 | -0.0146902 | 0.0399046 | 0.146981132502172 | 0.023269 | 0.0147203 | 0.942760033126509 | 0.00762123 | 0.0168301 | 0.186591162254011 | 0.0509562 | 0.027927 | 1.16444132189421 | 0.0612256 | 0.01047 | 8.30250998438206 | 0.068419 | 0.0131628 | 6.69560211436242 | 0.0552716 | 0.016649 | 3.04539187204145 | 0.00699565 | 0.0103845 | 0.300572490343027 | -0.0163238 | 0.0110193 | 0.858537683979731 | 0.0459087 | 0.0174635 | 2.06712256969952 | -0.00603131 | 0.0100248 | 0.261683306436353 | -0.013184 | 0.012416 | 0.540150838441945 | 0.00806523 | 0.0158605 | 0.213891980360821 | 0.0107472 | 0.00602802 | 1.12722391561763 | 0.0026019 | 0.00785942 | 0.130415119470223 | 0.0199859 | 0.00932442 | 1.49374127292725 | 0.0270407 | 0.029602 | 0.442367700805225 | 0.031714 | 0.037182 | 0.404668047506 | 0.0207834 | 0.0488852 | 0.173365512671506 | |||
rs9989237:94795202:C:T | known [2] | 14 | 94795202 | 14q32.13 | T | C | 0.999 | 10 | CORT ALL | 7667 | 8.24307876570261 | 0.224232750749967 | 0.734416 | SERPINA6 (5.5 kb); SERPINA2P (35 kb); SERPINA10 (36 kb); SERPINA1 (48 kb); PPP4R4 (49 kb) | NA | DDX24 | DICER1 | IFI27L1 | IFI27L2 | PPP4R4 | SERPINA1 | SERPINA11 | SERPINA6 | SERPINA9 | unnamed | Complement and coagulation cascades:SERPINA1 | Asparagine N-linked glycosylation:SERPINA1 | Post-translational protein phosphorylation:SERPINA1,SERPINA10 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs):SERPINA1,SERPINA10 | Platelet activation, signaling and aggregation:SERPINA1 | endocrine system disease:SERPINA1 | hepatitis:SERPINA1 | hepatitis C:SERPINA1 | cholestasis:SERPINA1 | uveitis:SERPINA1 | bile duct disease:SERPINA1 | uveal disease:SERPINA1 | biliary tract disease:SERPINA1 | vasculitis:SERPINA1 | hepatic vascular disease:SERPINA1 | gestational diabetes:SERPINA1 | esophageal varix:SERPINA1 | vein disease:SERPINA1 | pancreatitis:SERPINA1 | alpha 1-antitrypsin deficiency:SERPINA1 | Human immunodeficiency virus infectious disease:SERPINA1 | severe combined immunodeficiency:SERPINA1 | combined T cell and B cell immunodeficiency:SERPINA1 | thyroid carcinoma:SERPINA1 | pneumoconiosis:SERPINA1 | thyroid cancer:SERPINA1 | pancreas disease:SERPINA1 | varicose veins:SERPINA1 | interstitial lung disease:SERPINA1 | plasma protein metabolism disease:SERPINA1 | chromosomal disease:SERPINA1 | lower respiratory tract disease:SERPINA1 | bronchial disease:SERPINA1 | bronchiectasis:SERPINA1 | liver cirrhosis:SERPINA1 | lung disease:SERPINA1 | primary immunodeficiency disease:SERPINA1 | negative regulation of hydrolase activity:PPP4R4,SERPINA1,SERPINA10,SERPINA6 | glucocorticoid metabolic process:SERPINA6 | regulation of endopeptidase activity:SERPINA1,SERPINA10,SERPINA6 | regulation of peptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of endopeptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of peptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of proteolysis:SERPINA1,SERPINA10,SERPINA6 | regulation of phosphoprotein phosphatase activity:PPP4R4 | negative regulation of phosphoprotein phosphatase activity:PPP4R4 | regulation of protein dephosphorylation:PPP4R4 | steroid metabolic process:SERPINA6 | negative regulation of protein dephosphorylation:PPP4R4 | regulation of phosphatase activity:PPP4R4 | blood coagulation:SERPINA1,SERPINA10 | hemostasis:SERPINA1,SERPINA10 | coagulation:SERPINA1,SERPINA10 | post-translational protein modification:SERPINA1,SERPINA10 | regulation of dephosphorylation:PPP4R4 | acute inflammatory response:SERPINA1 | negative regulation of phosphatase activity:PPP4R4 | protein dephosphorylation:PPP4R4 | -0.0176633 | 0.0198196 | 0.428378501599504 | -0.00789343 | 0.0179812 | 0.179967429145895 | -0.0499181 | 0.0392606 | 0.691292623582277 | -0.0164624 | 0.0218065 | 0.346424760575176 | -0.0223549 | 0.0236944 | 0.461413699983688 | -0.0127984 | 0.0438425 | 0.113263995922989 | 0.00678311 | 0.016271 | 0.169535799857713 | 0.00507667 | 0.0186712 | 0.104720584758645 | 0.00491567 | 0.0307533 | 0.0589603858801831 | 0.0155342 | 0.012127 | 0.698518572778581 | 0.0290189 | 0.0151793 | 1.25251128451627 | 0.00102003 | 0.0193935 | 0.0186104648558439 | -0.00340549 | 0.0118867 | 0.110979699389714 | 0.00297858 | 0.0126522 | 0.0894380227600465 | -0.00403402 | 0.019984 | 0.0757083057016094 | -0.00149151 | 0.0116762 | 0.0465520106882209 | -0.00452093 | 0.0143748 | 0.123125439274282 | 0.00804267 | 0.0185728 | 0.177185538574809 | 0.0403298 | 0.00692366 | 8.24307876570261 | 0.0370085 | 0.00898525 | 4.41924489974262 | 0.0452752 | 0.0107792 | 4.57411216260854 | 0.0184933 | 0.0328167 | 0.241743069394748 | 0.00223045 | 0.0411204 | 0.0192010751768836 | 0.0545857 | 0.0545546 | 0.498408129005507 | |
14:94792771:GTT:GT | 14 | 94792771 | 14q32.13 | GT | GTT | 0.98 | 0 | CORT ALL | 7667 | 8.22297575719425 | 0.227028107473588 | 0.697878 | SERPINA6 (3 kb, near gene/Upstream gene/MODIFIER); SERPINA10 (33 kb); SERPINA2P (37 kb); PPP4R4 (47 kb) | NA | Complement and coagulation cascades:SERPINA1 | Asparagine N-linked glycosylation:SERPINA1 | Post-translational protein phosphorylation:SERPINA1,SERPINA10 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs):SERPINA1,SERPINA10 | Platelet activation, signaling and aggregation:SERPINA1 | endocrine system disease:SERPINA1 | hepatitis:SERPINA1 | hepatitis C:SERPINA1 | cholestasis:SERPINA1 | uveitis:SERPINA1 | bile duct disease:SERPINA1 | uveal disease:SERPINA1 | biliary tract disease:SERPINA1 | vasculitis:SERPINA1 | hepatic vascular disease:SERPINA1 | gestational diabetes:SERPINA1 | esophageal varix:SERPINA1 | vein disease:SERPINA1 | pancreatitis:SERPINA1 | alpha 1-antitrypsin deficiency:SERPINA1 | Human immunodeficiency virus infectious disease:SERPINA1 | severe combined immunodeficiency:SERPINA1 | combined T cell and B cell immunodeficiency:SERPINA1 | thyroid carcinoma:SERPINA1 | pneumoconiosis:SERPINA1 | thyroid cancer:SERPINA1 | pancreas disease:SERPINA1 | varicose veins:SERPINA1 | interstitial lung disease:SERPINA1 | plasma protein metabolism disease:SERPINA1 | chromosomal disease:SERPINA1 | lower respiratory tract disease:SERPINA1 | bronchial disease:SERPINA1 | bronchiectasis:SERPINA1 | liver cirrhosis:SERPINA1 | lung disease:SERPINA1 | primary immunodeficiency disease:SERPINA1 | negative regulation of hydrolase activity:PPP4R4,SERPINA1,SERPINA10,SERPINA6 | glucocorticoid metabolic process:SERPINA6 | regulation of endopeptidase activity:SERPINA1,SERPINA10,SERPINA6 | regulation of peptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of endopeptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of peptidase activity:SERPINA1,SERPINA10,SERPINA6 | negative regulation of proteolysis:SERPINA1,SERPINA10,SERPINA6 | regulation of phosphoprotein phosphatase activity:PPP4R4 | negative regulation of phosphoprotein phosphatase activity:PPP4R4 | regulation of protein dephosphorylation:PPP4R4 | steroid metabolic process:SERPINA6 | negative regulation of protein dephosphorylation:PPP4R4 | regulation of phosphatase activity:PPP4R4 | blood coagulation:SERPINA1,SERPINA10 | hemostasis:SERPINA1,SERPINA10 | coagulation:SERPINA1,SERPINA10 | post-translational protein modification:SERPINA1,SERPINA10 | regulation of dephosphorylation:PPP4R4 | acute inflammatory response:SERPINA1 | negative regulation of phosphatase activity:PPP4R4 | protein dephosphorylation:PPP4R4 | -0.0172741 | 0.0199123 | 0.413677177926967 | -0.00736992 | 0.018081 | 0.165180157776256 | -0.0546209 | 0.039426 | 0.780077704154573 | -0.0135224 | 0.0219092 | 0.269887441423905 | -0.0186524 | 0.0238282 | 0.362622360946726 | -0.011706 | 0.0439849 | 0.102256929088829 | 0.00833031 | 0.0163465 | 0.214398993604262 | 0.00543073 | 0.0187746 | 0.112141991721889 | 0.00825434 | 0.0308518 | 0.10285419766459 | 0.0179482 | 0.0121855 | 0.851483719162436 | 0.0311354 | 0.0152382 | 1.386920711689 | 0.00361358 | 0.0195094 | 0.0690234762653829 | -0.00141201 | 0.0119441 | 0.0429221373819524 | 0.00457019 | 0.0127034 | 0.143255405232731 | -0.00188598 | 0.0200861 | 0.0337676617562321 | -7.24653E-4 | 0.0117302 | 0.0219377770589908 | -0.0011399 | 0.0144282 | 0.0282469679755305 | 0.00497154 | 0.0186765 | 0.102322885264204 | 0.0404721 | 0.00695732 | 8.22297575719425 | 0.0366712 | 0.00902291 | 4.31703946886227 | 0.0459696 | 0.0108421 | 4.65055345119883 | 0.024362 | 0.0329572 | 0.337363032295245 | 0.00941744 | 0.0413374 | 0.0862799017880389 | 0.058191 | 0.0546973 | 0.540965047539232 | |||
rs114341625:112578458:G:A | novel2 | 3 | 112578458 | 3q13.2 | A | G | 0.955 | 3 | CORT ALL | 7667 | 8.1945072976831 | 0.018120907786618 | 0.524741 | CD200R1L (13 kb); CD200R1 (62 kb); GTPBP8 (130 kb); C3orf17 (140 kb) | NA | ATP6V1A | C3orf17 | CD200R1 | GTPBP8 | SLC35A5 | WDR52 | Kaposi sarcoma-associated herpesvirus infection:CD200R1,CD200R1L | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:CD200R1 | -0.0258943 | 0.0679564 | 0.152914962004336 | 0.0166459 | 0.05975 | 0.10757145305477 | -0.0712974 | 0.139298 | 0.215548184405478 | -0.0981653 | 0.0747363 | 0.723161511110615 | -0.0790859 | 0.0787278 | 0.501284293735714 | -0.155757 | 0.15938 | 0.483109139318258 | -0.0288922 | 0.0557788 | 0.218582860662791 | 0.00828982 | 0.0620416 | 0.0487960934581655 | -0.121831 | 0.111774 | 0.558943031228195 | -0.00977759 | 0.0384388 | 0.0973380038928629 | 0.00184771 | 0.0478065 | 0.0136000376175941 | -0.0142019 | 0.038394 | 0.147851343263538 | -0.0113557 | 0.0398976 | 0.110174658024887 | -0.0439174 | 0.0666561 | 0.292445152213103 | 0.00925469 | 0.0591443 | 0.057665480263401 | -0.128447 | 0.0221222 | 8.1945072976831 | -0.115467 | 0.0284758 | 4.29970568151621 | -0.142245 | 0.0347362 | 4.374542 | 0.0486626 | 0.112721 | 0.176525118736372 | -0.00662319 | 0.139033 | 0.0168195106011904 | 0.166618 | 0.192716 | 0.411643123753044 | ||||||||||||
rs35679777:68034459:CG:C | novel4 | 6 | 6834459 | 6q12 | C | CG | 0.999 | 0 | E2 ALL | 6798 | 8.1691759651567 | 0.380714842600765 | 0.782556 | RNA5SP208 (140 kb); RNU6-280P (220 kb) | NA | -0.010403 | 0.0172507 | 0.262374074433194 | -0.0102035 | 0.0154482 | 0.293241264515361 | 0.00564842 | 0.0347251 | 0.0600890606522299 | -0.011446 | 0.0189791 | 0.262394734992011 | -0.0098296 | 0.0203634 | 0.201086371876733 | -0.00748442 | 0.0390342 | 0.0716036356038689 | 0.0104805 | 0.0141592 | 0.337931922228444 | 0.00989792 | 0.0160407 | 0.269779117997645 | 0.0169697 | 0.0273726 | 0.271248634982209 | -5.57682E-5 | 0.0103937 | 0.00186320572055506 | 0.00418929 | 0.012934 | 0.12725244015235 | -0.00423261 | 0.0167335 | 0.0967401285234974 | 0.010691 | 0.010219 | 0.529480728499528 | 0.0147503 | 0.0107755 | 0.766904851282581 | 0.0577234 | 0.00995841 | 8.1691759651567 | 0.0393347 | 0.0122194 | 2.890671 | 0.0741314 | 0.0159642 | 5.4655119081985 | -7.95462E-5 | 0.00595638 | 0.00465223674567739 | 0.00490737 | 0.00767744 | 0.28174999251213 | -0.00707457 | 0.00934627 | 0.347670483609113 | 0.00537768 | 0.0285157 | 0.0703583638770128 | 0.00390933 | 0.0354359 | 0.0399232629787975 | 0.00368455 | 0.0480855 | 0.0273603089226293 | |||||||||
rs72906582:45222771:G:A | novel3 | 18 | 45222771 | 18q21.1 | A | G | 0.964 | 17 | PROG WOMEN | 1261 | 8.12492252325029 | 0.101244203013481 | 6.59622E-4 | TPMTP1 (66 kb); SMAD2 (140 kb) | NA | PIAS2 | SMAD2 | ST8SIA5 | Inflammatory bowel disease (IBD):SMAD2 | Human T-cell leukemia virus 1 infection:SMAD2 | Th17 cell differentiation:SMAD2 | Endocytosis:SMAD2 | Cellular senescence:SMAD2 | Relaxin signaling pathway:SMAD2 | Apelin signaling pathway:SMAD2 | Ubiquitin mediated proteolysis:PIAS2 | Signaling pathways regulating pluripotency of stem cells:SMAD2 | Transcriptional regulation of pluripotent stem cells:SMAD2 | urinary system disease:PIAS2,SMAD2 | multiple myeloma:SMAD2 | myeloma:SMAD2 | bone marrow cancer:SMAD2 | kidney disease:PIAS2,SMAD2 | collagen disease:SMAD2 | nephritis:SMAD2 | rheumatic disease:SMAD2 | systemic scleroderma:SMAD2 | scleroderma:SMAD2 | integumentary system disease:SMAD2 | cell type benign neoplasm:SMAD2 | glomerulonephritis:SMAD2 | amyotrophic lateral sclerosis:SMAD2 | lower respiratory tract disease:SMAD2 | bronchial disease:SMAD2 | motor neuron disease:SMAD2 | lung disease:SMAD2 | female reproductive organ cancer:SMAD2 | asthma:SMAD2 | adenoma:SMAD2 | integumentary system cancer:SMAD2 | skin cancer:SMAD2 | foregut morphogenesis:SMAD2 | signal transduction involved in regulation of gene expression:SMAD2 | regulation of mesoderm development:SMAD2 | negative regulation of intracellular steroid hormone receptor signaling pathway:PIAS2 | digestive tract development:SMAD2 | digestive system development:SMAD2 | regulation of gene expression, epigenetic:SMAD2 | gene silencing by miRNA:SMAD2 | posttranscriptional gene silencing by RNA:SMAD2 | posttranscriptional gene silencing:SMAD2 | digestive tract morphogenesis:SMAD2 | gene silencing by RNA:SMAD2 | endoderm formation:SMAD2 | regulation of activin receptor signaling pathway:SMAD2 | regulation of ossification:PIAS2 | ossification:PIAS2 | cellular response to dsRNA:SMAD2 | negative regulation of transforming growth factor beta receptor signaling pathway:SMAD2 | osteoblast differentiation:PIAS2 | negative regulation of cellular response to transforming growth factor beta stimulus:SMAD2 | negative regulation of translation:SMAD2 | regulation of intracellular steroid hormone receptor signaling pathway:PIAS2 | mesoderm formation:SMAD2 | pancreas development:SMAD2 | mesoderm morphogenesis:SMAD2 | endoderm development:SMAD2 | negative regulation of cellular amide metabolic process:SMAD2 | hormone-mediated signaling pathway:PIAS2 | regulation of epithelial to mesenchymal transition:SMAD2 | gene silencing:SMAD2 | regulation of BMP signaling pathway:SMAD2 | post-embryonic development:SMAD2 | response to dsRNA:SMAD2 | regulation of transforming growth factor beta receptor signaling pathway:SMAD2 | regulation of cellular response to transforming growth factor beta stimulus:SMAD2 | renal system development:SMAD2 | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:SMAD2 | regulation of osteoblast differentiation:PIAS2 | determination of left/right symmetry:SMAD2 | intracellular receptor signaling pathway:PIAS2 | activin receptor signaling pathway:SMAD2 | determination of bilateral symmetry:SMAD2 | specification of symmetry:SMAD2 | formation of primary germ layer:SMAD2 | urogenital system development:SMAD2 | mesoderm development:SMAD2 | epithelial to mesenchymal transition:SMAD2 | intracellular steroid hormone receptor signaling pathway:PIAS2 | negative regulation of cellular response to growth factor stimulus:SMAD2 | somatic stem cell population maintenance:SMAD2 | transmembrane receptor protein serine/threonine kinase signaling pathway:SMAD2 | regulation of binding:SMAD2 | 0.140791 | 0.0281928 | 6.19281823350953 | 0.0347859 | 0.0256685 | 0.755522481833114 | 0.318619 | 0.0551308 | 8.12492252325029 | 0.0840146 | 0.0311493 | 2.15179240278554 | 0.003563 | 0.0338559 | 0.0380092385430776 | 0.219603 | 0.0622721 | 3.34849132832137 | 0.0304565 | 0.0232711 | 0.719517239569672 | 3.77452E-4 | 0.0266705 | 0.00493107328508809 | 0.0773128 | 0.0439649 | 1.10186304953128 | -0.0116609 | 0.0166644 | 0.315078374327002 | -0.0247623 | 0.0207501 | 0.633147630487736 | 0.00381715 | 0.0268293 | 0.0521434635271791 | 0.0271158 | 0.0164623 | 1.00205515927867 | 0.0800302 | 0.0278825 | 2.38708481553918 | 0.00711207 | 0.0159999 | 0.182648194536236 | 0.00188761 | 0.0194791 | 0.0348914728982105 | 0.00880213 | 0.0259367 | 0.134107546120645 | 0.00669581 | 0.00957418 | 0.314862216162133 | 0.00262816 | 0.01237 | 0.0800087568983288 | 0.0144233 | 0.0149949 | 0.473517274019285 | 0.0267949 | 0.0467538 | 0.246695070530037 | 0.0294645 | 0.0586913 | 0.210606159264056 | 0.0290616 | 0.077354 | 0.150421517359175 | ||||
rs5935876:6922078:G:A | novel1 | 23 | 6922078 | Xp22.31 | A | G | 0.982 | 278 | DHEAS ALL | 7650 | 8.08300996296987 | 0.374331568627451 | 0.347581 | HDHD1 (45 kb); MIR4767 (140 kb); STS (220 kb) | NA | HDHD1 | HDHD1A | NLGN4X | PUDP | STS | Cell adhesion molecules (CAMs):NLGN4X | Steroid hormone biosynthesis:STS | Gamma carboxylation, hypusine formation and arylsulfatase activation:STS | polycystic ovary syndrome:STS | reproductive system disease:STS | neuropathy:STS | cell type benign neoplasm:STS | astrocytoma:STS | brain cancer:STS | specific developmental disorder:NLGN4X,STS | endocrine organ benign neoplasm:STS | female reproductive organ cancer:STS | adenoma:STS | glioblastoma multiforme:STS | steroid catabolic process:STS | organ growth:NLGN4X | postsynaptic membrane organization:NLGN4X | steroid metabolic process:STS | post-translational protein modification:STS | postsynaptic membrane assembly:NLGN4X | receptor-mediated endocytosis:NLGN4X | membrane assembly:NLGN4X | presynaptic membrane organization:NLGN4X | membrane biogenesis:NLGN4X | postsynapse assembly:NLGN4X | modulation of excitatory postsynaptic potential:NLGN4X | neuron cell-cell adhesion:NLGN4X | presynapse assembly:NLGN4X | synaptic vesicle recycling:NLGN4X | vocalization behavior:NLGN4X | 0.0360876 | 0.0271842 | 0.73404600176525 | 0.0199852 | 0.0221934 | 0.434133299368178 | 0.128295 | 0.0698463 | 1.17890721388401 | 0.0239878 | 0.0299082 | 0.3740499543161 | 0.01129276 | 0.02926 | 0.15515144074597 | 0.0826592 | 0.0786944 | 0.531797458547978 | 0.0777768 | 0.0222524 | 3.31540326234153 | 0.0876642 | 0.022923 | 3.86291503200198 | 0.0481106 | 0.055223 | 0.415738901757069 | -0.0971084 | 0.0168501 | 8.08300996296987 | -0.0563848 | 0.0185186 | 2.63289578174924 | -0.188607 | 0.0333804 | 7.79523719461589 | -0.00455113 | 0.0164808 | 0.10655173085991 | 0.00385598 | 0.0154184 | 0.0955452178476948 | -0.0291987 | 0.0159165 | 1.17665099089311 | -0.037635 | 0.0175125 | 1.49987609395766 | -0.0140109 | 0.0321312 | 0.178617500252701 | 0.0124042 | 0.0187462 | 0.293989268015477 | 0.0580214 | 0.0448892 | 0.70703987899252 | 0.0470532 | 0.050826 | 0.450094735384862 | 0.0944346 | 0.0970988 | 0.480019833008663 | ||||||||||
rs142754737:43865714:C:T | novel1 | 11 | 43865714 | 11p11.2 | T | C | 0.937 | 7 | PROG WOMEN | 1261 | 8.06021426219854 | 0.0142552712133228 | 0.426706 | HSD17B12 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); RP11-613D13.5 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); ALKBH3 (37 kb); SEC14L1P1 (53 kb) | NA | - | ALKBH3 | HSD17B12 | TTC17 | Steroid hormone biosynthesis:HSD17B12 | Metabolism of steroid hormones:HSD17B12 | Androgen biosynthesis:HSD17B12 | positive regulation of cell adhesion:HSD17B12 | DNA methylation or demethylation:ALKBH3 | cellular hormone metabolic process:HSD17B12 | oxidative demethylation:ALKBH3 | hormone biosynthetic process:HSD17B12 | DNA modification:ALKBH3 | steroid metabolic process:HSD17B12 | hormone metabolic process:HSD17B12 | steroid biosynthetic process:HSD17B12 | estrogen biosynthetic process:HSD17B12 | coenzyme biosynthetic process:HSD17B12 | fatty acid derivative metabolic process:HSD17B12 | 0.345894 | 0.0696468 | 6.13188244109844 | 0.13656 | 0.0627846 | 1.52580705437428 | 0.798375 | 0.138746 | 8.06021426219854 | 0.240311 | 0.0768993 | 2.74408135956067 | 0.249053 | 0.0826224 | 2.58117687436974 | 0.233298 | 0.157332 | 0.858355856687185 | 0.0775923 | 0.0574831 | 0.751489718381217 | 0.0732322 | 0.0652746 | 0.5815329790534 | 0.0931593 | 0.110471 | 0.398645223729474 | -0.0372806 | 0.0442842 | 0.398077919064475 | -0.112249 | 0.0586902 | 1.25334478732169 | 0.0285004 | 0.0666126 | 0.174731009703314 | 0.0350166 | 0.0695572 | 0.211359395932614 | 0.0491843 | 0.0434212 | 0.58951126769455 | 0.0947835 | 0.0561939 | 1.03783530928414 | 0.0143104 | 0.0660032 | 0.081784550555641 | 0.0299485 | 0.0252566 | 0.627616464685803 | 0.00278897 | 0.0343084 | 0.029090393622087 | 0.0568735 | 0.0372762 | 0.895933046432431 | 0.06289 | 0.113571 | 0.236713549598502 | -0.0361411 | 0.14144 | 0.0978017744899347 | 0.245713 | 0.190255 | 0.705602119972071 | ||||||||
rs67462449:7377539:C:CTTT | 17 | 7377539 | 17p13.1 | CTTT | C | 0.849 | 0 | TESTO MEN | 4291 | 8.01345353045888 | 0.635030529014216 | 0.108354 | ZBTB4 (0 kb, intron/Intron/MODIFIER); SLC35G6 (7.2 kb); POLR2A (10 kb); CHRNB1 (17 kb); FGF11 (29 kb); TMEM102 (37 kb); C17orf74 (47 kb) | 0.361 Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.361 Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.361 Systolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.361 Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.353 Blood protein levels // 0.339 Chin dimples | - | AC113189.5 | ACAP1 | ASGR2 | ATP1B2 | C17orf61 | C17orf61-PLSCR3 | CD68 | CHRNB1 | CTDNEP1 | EIF4A1 | EIF5A | FGF11 | FXR2 | KCTD11 | MPDU1 | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SHBG | SNORA48 | SOX15 | SPEM1 | TMEM102 | TMEM256-PLSCR3 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Endocytosis:ACAP1 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | RNA transport:EIF4A1 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of cell adhesion:TMEM102 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | positive regulation of cell cycle:SOX15 | peptidyl-tyrosine phosphorylation:TMEM102 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TMEM102 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13 | negative regulation of translation:POLR2A | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TMEM102 | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:POLR2A | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | mitochondrial outer membrane permeabilization:TMEM102 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | aging:EIF5A | protein export from nucleus:EIF5A | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | mitochondrial outer membrane permeabilization involved in programmed cell death:TMEM102 | positive regulation of mitochondrial membrane permeability:TMEM102 | regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | positive regulation of membrane permeability:TMEM102 | mRNA catabolic process:EIF4A1,TNFSF13 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | regulation of mitochondrial membrane permeability:TMEM102 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | mitochondrial membrane organization:TMEM102 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of membrane permeability:TMEM102 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of apoptotic signaling pathway:TMEM102,TNFSF12 | RNA catabolic process:EIF4A1,TNFSF13 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | regulation of striated muscle tissue development:SOX15 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | DNA-templated transcription, termination:POLR2A | regulation of leukocyte chemotaxis:TMEM102 | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | 0.0060841 | 0.0187121 | 0.127781939412239 | 0.00733798 | 0.0167491 | 0.179552225459887 | 0.00123882 | 0.0377946 | 0.0115070394942561 | -0.0507393 | 0.0205571 | 1.86456837696577 | -0.05542 | 0.0220267 | 1.92143444068288 | -0.0378856 | 0.0423968 | 0.429642725666719 | -0.029017 | 0.0153466 | 1.23067216267929 | -0.0215842 | 0.0173824 | 0.668465408540599 | -0.040759 | 0.0297153 | 0.768005699305248 | 0.00814764 | 0.0112572 | 0.328637368549604 | 0.00365289 | 0.0140948 | 0.0993559944611484 | 0.0130499 | 0.0179889 | 0.329585287459016 | -0.0451103 | 0.0110629 | 4.34195901505646 | -0.067072 | 0.0116932 | 8.01345353045888 | -0.0202812 | 0.0187888 | 0.552228186105944 | -0.0318551 | 0.0107705 | 2.50860048216445 | -0.0495663 | 0.013303 | 3.71088171378157 | -0.0113884 | 0.0171039 | 0.296266812301363 | -0.00874399 | 0.0064495 | 0.756527873834387 | -0.00367283 | 0.00835579 | 0.180285670206313 | -0.0153498 | 0.0100537 | 0.896822524756187 | -2.37031E-4 | 0.0308522 | 0.00266998142143869 | 0.0152494 | 0.0383135 | 0.160720604500867 | -0.0345718 | 0.0521175 | 0.29470517556445 | ||
rs13222543:100015457:C:T | 7 | 100015457 | 7q22.1 | T | C | 0.812 | 1 | DHEAS MEN | 4301 | 7.98730615830483 | 0.0174094236224134 | 0.449065 | ZCWPW1 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); MEPCE (11 kb); PPP1R35 (17 kb); PILRA (18 kb); C7orf61 (39 kb); RN7SL161P (45 kb); TSC22D4 (46 kb) | 1 Blood metabolite levels // 1 Blood metabolite ratios // 0.426 Metabolic traits // 0.426 Dehydroepiandrosterone sulphate levels // 0.426 Estrone levels | - | AP4M1 | C7orf59 | CNPY4 | COPS6 | EPHB4 | LAMTOR4 | MCM7 | MEPCE | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | STAG3OS | TAF6 | TRIM4 | TRIP6 | TSC22D4 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNHIT1 | ZSCAN21 | NNAT | Herpes simplex infection:PILRA | Lysosome:AP4M1 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | EPHB-mediated forward signaling:EPHB4 | EPH-Ephrin signaling:EPHB4 | multiple myeloma:EPHB4 | myeloma:EPHB4 | bone marrow cancer:EPHB4 | specific developmental disorder:AP4M1 | cerebral palsy:AP4M1 | immune response-activating signal transduction:PVRIG | immune response-activating cell surface receptor signaling pathway:PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:PVRIG | antigen receptor-mediated signaling pathway:PVRIG | protein localization to vacuole:AP4M1 | ephrin receptor signaling pathway:EPHB4 | nucleocytoplasmic transport:TRIP6 | protein localization to lysosome:AP4M1 | nuclear transport:TRIP6 | cytoplasmic sequestering of transcription factor:TRIP6 | leukocyte homeostasis:TSC22D4 | protein targeting to vacuole:AP4M1 | positive regulation of NF-kappaB import into nucleus:TRIP6 | cytoplasmic sequestering of protein:TRIP6 | protein localization to nucleus:TRIP6 | regulation of transcription factor import into nucleus:TRIP6 | transcription factor import into nucleus:TRIP6 | negative regulation of immune system process:PVRIG,TSC22D4 | snRNA metabolic process:MEPCE | negative regulation of phosphatase activity:PPP1R35 | negative regulation of hydrolase activity:PPP1R35 | negative regulation of transcription factor import into nucleus:TRIP6 | blood vessel endothelial cell migration:EPHB4 | sprouting angiogenesis:EPHB4 | -0.0626549 | 0.0618865 | 0.506601903906198 | -0.0323617 | 0.0574274 | 0.241715033457017 | -0.197553 | 0.123184 | 0.963462922919376 | -0.0836606 | 0.0680788 | 0.65904653245294 | -0.110607 | 0.0756428 | 0.841912044644965 | -0.0608289 | 0.131672 | 0.190949617447644 | -0.0328287 | 0.0508056 | 0.285464041254616 | -0.0424486 | 0.0596245 | 0.321819536985751 | -0.0321605 | 0.0923636 | 0.13798973892034 | -0.220414 | 0.0422364 | 6.74397536944864 | -0.30917 | 0.0539962 | 7.98730615830483 | -0.137302 | 0.0660338 | 1.42489648107015 | -0.00665327 | 0.0403157 | 0.0610197066625842 | 0.0456767 | 0.0447312 | 0.512594339828133 | -0.0955178 | 0.0650957 | 0.846850038743081 | 0.0111383 | 0.0407576 | 0.105331769820202 | 0.0863085 | 0.0516015 | 1.0249971829289 | -0.10768900000000001 | 0.0620248 | 1.08342762364898 | -0.0167663 | 0.0239631 | 0.315037107613412 | -0.0528616 | 0.0316168 | 1.02440829026471 | 0.027549 | 0.0366363 | 0.344789509029079 | -0.0341407 | 0.102561 | 0.131203379515346 | -0.064922 | 0.131151 | 0.207139245671999 | 0.0310479 | 0.164448 | 0.0704252671588668 | |
rs3867595:7379776:G:C | 17 | 7379776 | 17p13.1 | C | G | 0.884 | 1 | TESTO ALL | 7643 | 7.98159911809756 | 0.0169014130576998 | 0.110172 | ZBTB4 (0 kb, intron/Intron/MODIFIER); SLC35G6 (4.9 kb, near gene/Upstream gene/MODIFIER); POLR2A (7.9 kb); CHRNB1 (19 kb); FGF11 (32 kb); TMEM102 (39 kb); C17orf74 (49 kb) | 0.341 Testosterone levels // 0.341 Sex hormone-binding globulin levels | - | ALOX12 | C17orf81 | CD68 | CHRNB1 | CTDNEP1 | EIF5A | FGF11 | KCNAB3 | LSMD1 | MPDU1 | NLGN2 | PLSCR3 | POLR2A | RP11-186B7.4 | SENP3 | SNORA48 | SOX15 | SPEM1 | TMEM102 | TMEM88 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TRAPPC1 | ZBTB4 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Huntington disease:POLR2A | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Asparagine N-linked glycosylation:MPDU1 | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | kidney disease:TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF13 | nephritis:TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF13 | systemic scleroderma:TNFSF13 | scleroderma:TNFSF13 | integumentary system disease:TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:TNFSF13 | myopathy:TNFSF13 | muscle tissue disease:TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lung adenocarcinoma:EIF5A | liver cirrhosis:TNFSF13 | chronic lymphocytic leukemia:TNFSF13 | positive regulation of cell activation:TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF13 | positive regulation of cell adhesion:TMEM102 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | cellular response to tumor necrosis factor:TNFSF13 | response to tumor necrosis factor:TNFSF13 | regulation of immune effector process:TNFSF13 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | peptidyl-tyrosine phosphorylation:TMEM102 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TMEM102 | regulation of DNA metabolic process:TNFSF13 | negative regulation of translation:POLR2A | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TMEM102 | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:POLR2A | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | mitochondrial outer membrane permeabilization:TMEM102 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | aging:EIF5A | protein export from nucleus:EIF5A | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | mitochondrial outer membrane permeabilization involved in programmed cell death:TMEM102 | positive regulation of mitochondrial membrane permeability:TMEM102 | regulation of mitochondrial membrane permeability involved in apoptotic process:TMEM102 | positive regulation of membrane permeability:TMEM102 | mRNA catabolic process:TNFSF13 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | regulation of mitochondrial membrane permeability:TMEM102 | mitochondrial membrane organization:TMEM102 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of membrane permeability:TMEM102 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of apoptotic signaling pathway:TMEM102 | RNA catabolic process:TNFSF13 | regulation of membrane potential:CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | positive regulation of viral process:POLR2A | DNA-templated transcription, termination:POLR2A | regulation of leukocyte chemotaxis:TMEM102 | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | -0.00464921 | 0.0701262 | 0.0235826119846827 | 0.00254798 | 0.0653312 | 0.0137232852726779 | -0.040161 | 0.12964 | 0.121063639707981 | -0.128414 | 0.0771003 | 1.01793284282923 | -0.0741188 | 0.0860878 | 0.409594015309134 | -0.209568 | 0.14778 | 0.805213788858602 | 0.00322948 | 0.0575615 | 0.0198765887317363 | 0.0240295 | 0.0678322 | 0.140736778416766 | -0.0267901 | 0.103798 | 0.0988654767246436 | 0.0297631 | 0.0408601 | 0.331278706371361 | -0.0185932 | 0.0659715 | 0.108981887598371 | -0.231364 | 0.0404232 | 7.98159911809756 | -0.241832 | 0.0422914 | 7.96805455468595 | -0.196297 | 0.0679342 | 2.41360175583393 | -0.0705202 | 0.0386254 | 1.16820378697916 | -0.119158 | 0.0476114 | 1.90923773856357 | -0.00531515 | 0.0613412 | 0.0310736437310292 | -0.0296703 | 0.0235007 | 0.684537677477285 | -0.00837033 | 0.0304064 | 0.106182776032537 | -0.0563735 | 0.0367724 | 0.902166790267756 | 0.119888 | 0.116357 | 0.518597506175541 | 0.133277 | 0.150881 | 0.423401835371188 | 0.0958456 | 0.182176 | 0.222587678503256 | |||||
rs139441768:90679263:T:C | novel4 | 5 | 90679263 | 5q14.3 | C | T | 0.904 | 2 | PROG ALL | 2070 | 7.89146880114213 | 0.0117106280193237 | ARRDC3 (0.087 kb, near gene/Upstream gene/MODIFIER); LUCAT1 (69 kb); RAB5CP2 (93 kb); RNU4-90P (110 kb) | NA | negative regulation of homeostatic process:ARRDC3 | regulation of heat generation:ARRDC3 | regulation of homeostatic process:ARRDC3 | regulation of protein modification by small protein conjugation or removal:ARRDC3 | heat generation:ARRDC3 | multicellular organismal homeostasis:ADGRV1,ARRDC3 | 0.45207 | 0.0791544 | 7.89146880114213 | 0.155067 | 0.0794433 | 1.29112719286341 | 0.6113884 | 0.1479081 | 4.447124 | 0.228273 | 0.087626 | 2.03379864389534 | 0.227599 | 0.104677 | 1.5249800151335 | 0.207666 | 0.154583 | 0.745758961836335 | 0.0216393 | 0.0654815 | 0.130133735101348 | 0.0445043 | 0.0825955 | 0.229075857298699 | -0.0211874 | 0.108563 | 0.0729778281090877 | 0.0196247 | 0.130793 | 0.0551498136347395 | -0.0624597 | 0.182494 | 0.135361971624086 | 0.132415 | 0.187192 | 0.319144370115748 | ||||||||||||||||||||||||||||||||||||||||||
X:6960700:TG:TGG | 23 | 6960700 | Xp22.31 | TGG | TG | 0.977 | 0 | DHEAS ALL | 7650 | 7.86903936987784 | 0.529926470588235 | 0.962423 | HDHD1 (6.3 kb); MIR4767 (110 kb); STS (180 kb) | NA | HDHD1 | HDHD1A | NLGN4X | PUDP | STS | Cell adhesion molecules (CAMs):NLGN4X | Steroid hormone biosynthesis:STS | Gamma carboxylation, hypusine formation and arylsulfatase activation:STS | polycystic ovary syndrome:STS | reproductive system disease:STS | neuropathy:STS | cell type benign neoplasm:STS | astrocytoma:STS | brain cancer:STS | specific developmental disorder:NLGN4X,STS | endocrine organ benign neoplasm:STS | female reproductive organ cancer:STS | adenoma:STS | glioblastoma multiforme:STS | steroid catabolic process:STS | organ growth:NLGN4X | postsynaptic membrane organization:NLGN4X | steroid metabolic process:STS | post-translational protein modification:STS | postsynaptic membrane assembly:NLGN4X | receptor-mediated endocytosis:NLGN4X | membrane assembly:NLGN4X | presynaptic membrane organization:NLGN4X | membrane biogenesis:NLGN4X | postsynapse assembly:NLGN4X | modulation of excitatory postsynaptic potential:NLGN4X | neuron cell-cell adhesion:NLGN4X | presynapse assembly:NLGN4X | synaptic vesicle recycling:NLGN4X | vocalization behavior:NLGN4X | -0.01561574 | 0.0264266 | 0.255983331700476 | -0.0093668 | 0.0216216 | 0.177226031745652 | -0.0949248 | 0.0679628 | 0.789149307274757 | -0.00781976 | 0.029069 | 0.103500788971458 | 0.00279402 | 0.028501 | 0.0353062923238324 | -0.0658968 | 0.0759674 | 0.413416070687076 | -0.078564 | 0.0216198 | 3.54361422666133 | -0.0876904 | 0.0223206 | 4.04710734671467 | -0.058852 | 0.0532788 | 0.569107781682363 | 0.0929846 | 0.0163723 | 7.86903936987784 | 0.0708701 | 0.017923 | 4.11457658078602 | 0.143003 | 0.0327413 | 4.90106223007539 | 0.00575572 | 0.0160187 | 0.143052507337902 | -0.00550818 | 0.0149444 | 0.14725048585313 | 0.0111664 | 0.0154317 | 0.328540191795284 | 0.0138383 | 0.0169606 | 0.382420985266633 | 0.00155502 | 0.00937032 | 0.0613827196245503 | 0.0122387 | 0.0106588 | 0.600542614504458 | -0.0251035 | 0.0183257 | 0.767682528488278 | -0.0231102 | 0.0436568 | 0.224307287737694 | 0.01236552 | 0.0495138 | 0.0953769482018654 | -0.1472402 | 0.0938086 | 0.931899520775334 | ||||||||
rs111730697:22317658:T:TATCC | 13 | 22317658 | 13q12.11 | TATCC | T | 0.805 | 0 | DHEAS ALL | 7659 | 7.79134101336498 | 0.259692779736258 | 1.41888 | FGF9 (39 kb); RN7SL766P (47 kb); RPS7P10 (110 kb); LINC00424 (130 kb) | NA | Regulation of actin cytoskeleton:FGF9 | endocrine system disease:FGF9 | gonadal dysgenesis:FGF9 | gonadal disease:FGF9 | organ growth:FGF9 | nucleocytoplasmic transport:FGF9 | nuclear transport:FGF9 | regulation of activin receptor signaling pathway:FGF9 | cellular response to fibroblast growth factor stimulus:FGF9 | lipid modification:FGF9 | response to fibroblast growth factor:FGF9 | protein localization to nucleus:FGF9 | regulation of cardiac muscle tissue growth:FGF9 | smoothened signaling pathway:FGF9 | regulation of heart growth:FGF9 | activin receptor signaling pathway:FGF9 | regulation of protein kinase B signaling:FGF9 | regulation of cardiac muscle tissue development:FGF9 | cardiac muscle tissue growth:FGF9 | regulation of striated muscle tissue development:FGF9 | regulation of muscle tissue development:FGF9 | heart growth:FGF9 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:FGF9 | regulation of organ growth:FGF9 | -0.00715224 | 0.0215587 | 0.130705488174068 | 0.0145105 | 0.0191682 | 0.347582489785504 | -0.018214 | 0.042607 | 0.174558302440534 | -0.013419 | 0.0237174 | 0.242908539669139 | 0.00188661 | 0.0252704 | 0.0266416618836319 | -0.0333144 | 0.0494608 | 0.300321804796207 | -0.0325129 | 0.017682 | 1.1798412493334 | -0.00800288 | 0.0199059 | 0.162587082498492 | -0.0735943 | 0.0345935 | 1.47196048332282 | -0.0719463 | 0.0127368 | 7.79134101336498 | -0.070903 | 0.0161087 | 4.96864405825692 | -0.071587 | 0.0201082 | 3.43094109736391 | -0.00854298 | 0.0126021 | 0.302916318569356 | 0.0186615 | 0.0134458 | 0.782076719421994 | -0.0381678 | 0.0212896 | 1.13664263566127 | 0.00452618 | 0.0122922 | 0.147085928883825 | -0.0043954 | 0.0152667 | 0.111586286200048 | 0.0112712 | 0.0194335 | 0.2503231914882 | -0.0123646 | 0.00732469 | 1.03906995994126 | -5.77864E-4 | 0.0095743 | 0.0214214480768081 | -0.0251723 | 0.0112847 | 1.59001111480936 | -0.0551231 | 0.0355115 | 0.918080492007669 | -0.0707079 | 0.0438841 | 0.969121091749273 | -0.031314 | 0.0605919 | 0.217913108851545 | ||||
rs77032081:13363279:C:T | novel3 | 11 | 13363279 | 11p15.2 | T | C | 0.932 | 3 | PROG WOMEN | 1261 | 7.78098687603881 | 0.017956161776368 | 0.0346787 | ARNTL (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); RN7SKP151 (11 kb); BTBD10 (46 kb); PTH (150 kb) | NA | ARNTL | Herpes simplex infection:ARNTL | Parathyroid hormone synthesis, secretion and action:PTH | Dopaminergic synapse:ARNTL | endocrine system disease:PTH | urinary system disease:PTH | myeloma:PTH | bone marrow cancer:PTH | kidney disease:PTH | polycystic ovary syndrome:PTH | aortic valve disease:PTH | heart valve disease:PTH | aortic valve stenosis:PTH | amyotrophic lateral sclerosis:BTBD10 | motor neuron disease:BTBD10 | coronary artery disease:PTH | positive regulation of skeletal muscle tissue development:ARNTL | negative regulation of intracellular steroid hormone receptor signaling pathway:ARNTL | nucleocytoplasmic transport:ARNTL | nuclear transport:ARNTL | regulation of skeletal muscle tissue development:ARNTL | columnar/cuboidal epithelial cell development:ARNTL | regulation of ossification:PTH | ossification:PTH | regulation of intracellular steroid hormone receptor signaling pathway:ARNTL | pancreas development:ARNTL | positive regulation of leukocyte proliferation:PTH | positive regulation of striated muscle tissue development:ARNTL | positive regulation of muscle organ development:ARNTL | positive regulation of muscle tissue development:ARNTL | regulation of protein secretion:ARNTL | hormone-mediated signaling pathway:ARNTL,PTH | protein localization to nucleus:ARNTL | positive regulation of ossification:PTH | regulation of peptide secretion:ARNTL | regulation of canonical Wnt signaling pathway:ARNTL | ribonucleotide biosynthetic process:PTH | ribose phosphate biosynthetic process:PTH | columnar/cuboidal epithelial cell differentiation:ARNTL | protein import into nucleus:ARNTL | positive regulation of nucleotide biosynthetic process:PTH | positive regulation of purine nucleotide biosynthetic process:PTH | cellular response to oxidative stress:ARNTL | molting cycle:ARNTL | hair cycle:ARNTL | regulation of fat cell differentiation:ARNTL | nuclear import:ARNTL | canonical Wnt signaling pathway:ARNTL | positive regulation of canonical Wnt signaling pathway:ARNTL | negative regulation of ossification:PTH | regulation of Wnt signaling pathway:ARNTL | protein import:ARNTL | nucleotide biosynthetic process:PTH | regulation of leukocyte proliferation:PTH | nucleoside phosphate biosynthetic process:PTH | intracellular steroid hormone receptor signaling pathway:ARNTL | regulation of striated muscle tissue development:ARNTL | regulation of epithelial cell differentiation:ARNTL | positive regulation of nucleotide metabolic process:PTH | positive regulation of purine nucleotide metabolic process:PTH | regulation of muscle tissue development:ARNTL | regulation of muscle organ development:ARNTL | epithelial cell proliferation:BTBD10 | regulation of purine nucleotide biosynthetic process:PTH | 0.260374 | 0.064853 | 4.21033328348379 | -0.0275468 | 0.0600816 | 0.189313928247121 | 0.704529 | 0.124815 | 7.78098687603881 | 6.11614E-4 | 0.0716284 | 0.00296853636401619 | -0.125103 | 0.0791252 | 0.94274100023236 | 0.186814 | 0.139411 | 0.743116359248172 | -0.0191596 | 0.0534388 | 0.142678964268778 | -0.0442369 | 0.0623778 | 0.32026602457579 | 0.00762143 | 0.0979092 | 0.027808273775426 | -0.0171224 | 0.0390652 | 0.179690144678914 | -0.0597471 | 0.0477898 | 0.675256737296413 | 0.0417754 | 0.0643033 | 0.287425212215136 | 0.0506302 | 0.0653458 | 0.358073982494028 | -0.0565597 | 0.0377418 | 0.872963268044416 | -0.0593791 | 0.0449345 | 0.729675263997477 | 0.0131278 | 0.0224046 | 0.253432740495958 | 0.0275991 | 0.0285439 | 0.476781769156376 | -0.00403423 | 0.035769 | 0.0408626916880709 | 0.0246786 | 0.109218 | 0.0855203868824726 | 0.167219 | 0.141431 | 0.624724224132252 | -0.180296 | 0.171254 | 0.53342151144606 | |||||||||||
rs2431830:48380206:C:T | 19 | 48380206 | 19q13.33 | T | C | 0.996 | 20 | DHEAS ALL | 7659 | 7.75954810449467 | 0.730061496278888 | 0.0642353 | SULT2A1 (0 kb, intron/Intron/MODIFIER); TPRX2P (15 kb); CRX (34 kb); TPRX1 (58 kb) | 0.655 Blood metabolite levels // 0.456 Blood metabolite ratios // 0.456 Gallstone disease // 0.31 Dehydroepiandrosterone sulphate levels // 0.31 Sex hormone levels | CA11 | CABP5 | CTD-3098H1.2 | EMP3 | GLTSCR1 | GLTSCR2 | LIG1 | PLA2G4C | PRR24 | SEPW1 | SULT2A1 | TMEM160 | VRK3 | Chemical carcinogenesis:SULT2A1 | Metabolism of xenobiotics by cytochrome P450:SULT2A1 | Bile secretion:SULT2A1 | Biological oxidations:SULT2A1 | Phase II - Conjugation of compounds:SULT2A1 | polycystic ovary syndrome:SULT2A1 | steroid catabolic process:SULT2A1 | steroid metabolic process:SULT2A1 | sulfur compound metabolic process:SULT2A1 | sperm capacitation:BSPH1 | 0.00405093 | 0.019054 | 0.0800552304978746 | -0.00966123 | 0.0174233 | 0.237075480733422 | 0.0255334 | 0.0373709 | 0.305874105432653 | 0.0460973 | 0.0209387 | 1.5558286834733 | -8.9429E-4 | 0.0229678 | 0.0136999775798274 | 0.126185 | 0.0411709 | 2.64585312941309 | -0.00738022 | 0.0156394 | 0.195827843410711 | -0.0299919 | 0.0180748 | 1.01196215230361 | 0.0310457 | 0.0290456 | 0.544398450956806 | 0.0633974 | 0.0112485 | 7.75954810449467 | 0.0358072 | 0.0140671 | 1.96204390614082 | 0.0948782 | 0.0180251 | 6.85016530328422 | -0.00666904 | 0.011129 | 0.260421327078977 | -0.0160573 | 0.0117502 | 0.7650602694601 | 0.0139359 | 0.0187323 | 0.340172188326248 | -0.034153 | 0.0108474 | 2.78484907663748 | -0.0295199 | 0.0132718 | 1.58283399823679 | -0.0319155 | 0.0174154 | 1.1748186881663 | -0.00383689 | 0.008386 | 0.188903786135938 | 0.0286233 | 0.0315633 | 0.438191673833969 | -0.00553659 | 0.039987 | 0.0506592812559392 | 0.0876113 | 0.0512427 | 1.05665241721682 | |||||||
rs117430166:99827531:C:T | 7 | 99827531 | 7q22.1 | T | C | 0.883 | 1 | DHEAS MEN | 4301 | 7.73037966289911 | 0.0432336665891653 | 0.164078 | GATS (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); GATS (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); PVRIG (8.4 kb); STAG3 (8.4 kb) | 0.619 Metabolic traits // 0.619 Dehydroepiandrosterone sulphate levels // 0.619 Estrone levels // 0.491 Blood metabolite levels // 0.491 Blood metabolite ratios // 0.48 Obesity-related traits | - | AC073842.5 | ACHE | AP4M1 | C7orf43 | C7orf59 | CNPY4 | COPS6 | CYP3A7 | EPHB4 | FIS1 | GAL3ST4 | GATS | GIGYF1 | GS1-259H13.2 | LAMTOR4 | MCM7 | MEPCE | OR2AE1 | PILRA | PILRB | PMS2P1 | PTCD1 | PVRIG | PVRIG2P | SAP25 | STAG3 | STAG3L5P | STAG3L5P-PVRIG2P-PILRB | STAG3OS | TAF6 | TRIM4 | TRIP6 | TSC22D4 | UFSP1 | ZCWPW1 | ZKSCAN1 | ZKSCAN5 | ZNF3 | ZNF394 | ZNHIT1 | ZSCAN21 | NNAT | PMS2 | PMS2P5 | TIMP1 | Herpes simplex infection:PILRA,TAF6 | Lysosome:AP4M1 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:PILRA,PILRB | EPHB-mediated forward signaling:EPHB4 | mTORC1-mediated signalling:LAMTOR4 | EPH-Ephrin signaling:EPHB4 | Energy dependent regulation of mTOR by LKB1-AMPK:LAMTOR4 | Infectious disease:TAF6 | mTOR signalling:LAMTOR4 | Transcriptional Regulation by TP53:LAMTOR4,TAF6 | Transcription of the HIV genome:TAF6 | Regulation of PTEN gene transcription:LAMTOR4 | RNA Polymerase II Pre-transcription Events:TAF6 | Macroautophagy:LAMTOR4 | TP53 Regulates Metabolic Genes:LAMTOR4 | multiple myeloma:EPHB4 | myeloma:EPHB4 | bone marrow cancer:EPHB4 | specific developmental disorder:AP4M1 | female reproductive organ cancer:STAG3 | cerebral palsy:AP4M1 | immune response-activating signal transduction:PVRIG | immune response-activating cell surface receptor signaling pathway:PVRIG | T cell receptor signaling pathway:PVRIG | immune response-regulating cell surface receptor signaling pathway:PVRIG | antigen receptor-mediated signaling pathway:PVRIG | protein localization to vacuole:AP4M1,LAMTOR4 | ephrin receptor signaling pathway:EPHB4 | nucleocytoplasmic transport:TRIP6 | protein localization to lysosome:AP4M1,LAMTOR4 | nuclear transport:TRIP6 | positive regulation of TOR signaling:LAMTOR4 | cytoplasmic sequestering of transcription factor:TRIP6 | leukocyte homeostasis:TSC22D4 | protein targeting to vacuole:AP4M1 | DNA-templated transcription, elongation:TAF6 | positive regulation of NF-kappaB import into nucleus:TRIP6 | post-translational protein modification:COPS6 | cytoplasmic sequestering of protein:TRIP6 | protein localization to nucleus:TRIP6 | cellular response to amino acid stimulus:LAMTOR4 | regulation of autophagy:LAMTOR4 | regulation of transcription factor import into nucleus:TRIP6 | smoothened signaling pathway:GPC2 | transcription factor import into nucleus:TRIP6 | regulation of macroautophagy:LAMTOR4 | negative regulation of immune system process:PVRIG,TSC22D4 | snRNA metabolic process:MEPCE,TAF6 | negative regulation of transcription factor import into nucleus:TRIP6 | regulation of TOR signaling:LAMTOR4 | autophagy:LAMTOR4 | process utilizing autophagic mechanism:LAMTOR4 | transcription elongation from RNA polymerase II promoter:TAF6 | blood vessel endothelial cell migration:EPHB4 | sprouting angiogenesis:EPHB4 | ncRNA transcription:TAF6 | -0.012439 | 0.0410566 | 0.118078086453888 | -0.0196515 | 0.0369026 | 0.225883938028723 | -0.0663436 | 0.0817107 | 0.380041031633696 | -0.0359093 | 0.0451641 | 0.369923160473893 | -0.0660083 | 0.0486124 | 0.757612639403327 | -6.38191E-6 | 0.0923744 | 2.38868533991808E-5 | -0.0327089 | 0.0336934 | 0.479161578198342 | -0.0622147 | 0.0382838 | 0.981399350623058 | 0.00744765 | 0.0647926 | 0.0416650297442628 | -0.124655 | 0.0258156 | 5.86184577696109 | -0.18205 | 0.0323673 | 7.73037966289911 | -0.0621062 | 0.0411549 | 0.881811356530928 | 0.0191784 | 0.0251763 | 0.35047140737125 | 0.039699 | 0.0270161 | 0.848605631348993 | -0.0109153 | 0.0423036 | 0.0988742018993811 | 0.00437533 | 0.0248042 | 0.0655096287289328 | 0.0483612 | 0.0307737 | 0.93530246609966 | -0.0503061 | 0.0391336 | 0.701977022445313 | -0.0132754 | 0.0147515 | 0.433971656200081 | -0.0442793 | 0.0191431 | 1.68363749798755 | 0.0235854 | 0.0229509 | 0.516959302316127 | -0.0401426 | 0.0674344 | 0.258280485299921 | -0.0290506 | 0.0836937 | 0.137529907659868 | -0.0482536 | 0.114133 | 0.172250885430948 | |
rs57159061:81590962:T:C | known [8] | 16 | 81590962 | 16q23.2 | C | T | 0.847 | 11 | DHEAS ALL | 7659 | 7.72049047060693 | 0.0750952121686904 | 0.357375 | CMIP (0 kb, intron/Intron/MODIFIER); GAN (170 kb); MIR4720 (170 kb); PLCG2 (180 kb) | 0.964 Dehydroepiandrosterone sulphate levels | PLCG2 | urinary system disease:CMIP | kidney disease:CMIP | neuropathy:GAN | axonal neuropathy:GAN | post-translational protein modification:GAN | 0.0591226 | 0.034094 | 1.08066559255752 | 0.036291 | 0.0295495 | 0.658355798414595 | 0.104542 | 0.07214 | 0.831817892217862 | -0.029029 | 0.0375317 | 0.357196288770155 | -0.0182532 | 0.0389669 | 0.194123459545334 | -0.0485137 | 0.0827131 | 0.25359468318842 | 0.00389076 | 0.0280056 | 0.0508442827773688 | -0.00871009 | 0.0306983 | 0.109769620741877 | 0.0385702 | 0.0580126 | 0.295543181852527 | 0.117829 | 0.020964 | 7.72049047060693 | 0.0912883 | 0.0257788 | 3.39981477283119 | 0.149075 | 0.0342206 | 4.87848283234815 | -0.0114247 | 0.0214667 | 0.225787512069757 | 0.0178242 | 0.0332091 | 0.228076823887355 | -0.0210143 | 0.0152354 | 0.775208043507319 | 0.00695904 | 0.0192153 | 0.144340947723931 | -0.0263515 | 0.0562439 | 0.194185258348194 | 0.00267489 | 0.0674535 | 0.0139568795030368 | -0.0978435 | 0.102189 | 0.470228401683001 | ||||||||||||||||||
rs9268559:32389391:A:G | 6 | 32389391 | 6p21.32 | G | A | 0.974 | 0 | OHP17 ALL | 2070 | 7.68586933134742 | 0.0137550724637681 | BTNL2 (14 kb); HLA-DRA (18 kb); HCG23 (28 kb); HLA-DRB9 (38 kb); C6orf10 (50 kb) | 0.519 Blood protein levels // 0.42 Migraine // 0.376 Economic and political preferences (environmentalism) // 0.376 Hepatitis B vaccine response // 0.323 Ulcerative colitis // 0.321 Marginal zone lymphoma | - | ABHD16A | AGER | AIF1 | APOM | BAG6 | BRD2 | C4A | C4B | C4B 2 | C6orf10 | C6orf136 | C6orf48 | CCHCR1 | CLIC1 | CSNK2B | CUTA | CYP21A1P | DDAH2 | DDR1 | DHX16 | DOM3Z | DXO | EHMT2 | GPANK1 | GPSM3 | HCG23 | HCG27 | HCP5 | HLA-C | HLA-DOA | HLA-DOB | HLA-DPA1 | HLA-DQA1 | HLA-DQA2 | HLA-DQB1 | HLA-DQB2 | HLA-DRA | HLA-DRB1 | HLA-DRB2 | HLA-DRB3 | HLA-DRB4 | HLA-DRB5 | HLA-DRB6 | HLA-DRB7 | HLA-DRB8 | HSPA1A | HSPA1B | HSPA1L | LSM2 | LST1 | LTA | LTB | LY6G5B | LY6G5C | LY6G6C | MCCD1 | MDC1 | MICA | MICB | MSH5 | MSH5-SAPCD1 | NCR3 | NEU1 | PHF1 | PRRC2A | PSMB8 | PSMB9 | PSORS1C1 | PSORS1C2 | RNF5 | SAPCD1 | SKIV2L | SLC44A4 | STK19 | TAP1 | TAP2 | TNF | unnamed | VARS | VARS2 | VPS52 | XXbac-BPG299F13.17 | Y RNA | ZBTB12 | BTN3A3 | FLOT1 | HCP5 | HLA-C | IAH1 | KIAA2013 | LIMS1 | LINC00243 | LST1 | MDC1 | NHP2 | TINF2 | unnamed | VARS2 | XPO5 | ZNF672 | Type I diabetes mellitus:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Allograft rejection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graft-versus-host disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Antigen processing and presentation:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L,TAP2 | Autoimmune thyroid disease:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Viral myocarditis:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Staphylococcus aureus infection:HLA-DQA1,HLA-DRA,HLA-DRB1 | Asthma:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phagosome:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Herpes simplex infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | Intestinal immune network for IgA production:HLA-DQA1,HLA-DRA,HLA-DRB1 | Rheumatoid arthritis:HLA-DQA1,HLA-DRA,HLA-DRB1 | Inflammatory bowel disease (IBD):HLA-DQA1,HLA-DRA,HLA-DRB1 | Toxoplasmosis:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Systemic lupus erythematosus:HLA-DQA1,HLA-DRA,HLA-DRB1 | Cell adhesion molecules (CAMs):HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Leishmaniasis:HLA-DQA1,HLA-DRA,HLA-DRB1 | Influenza A:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Hematopoietic cell lineage:HLA-DQA1,HLA-DRA,HLA-DRB1 | Epstein-Barr virus infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | Human T-cell leukemia virus 1 infection:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Th1 and Th2 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Th17 cell differentiation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Tuberculosis:HLA-DQA1,HLA-DRA,HLA-DRB1 | Natural killer cell mediated cytotoxicity:HLA-C,NCR3 | Endocytosis:HLA-C,HSPA1A,HSPA1B,HSPA1L | Legionellosis:HSPA1A,HSPA1B,HSPA1L | Human cytomegalovirus infection:HLA-C,TAP2 | Kaposi sarcoma-associated herpesvirus infection:HLA-C | Viral carcinogenesis:HLA-C | Spliceosome:HSPA1A,HSPA1B,HSPA1L | Human immunodeficiency virus 1 infection:HLA-C,TAP2 | Protein processing in endoplasmic reticulum:HSPA1A,HSPA1B,HSPA1L | Cellular senescence:HLA-C | Longevity regulating pathway - multiple species:HSPA1A,HSPA1B,HSPA1L | Measles:HSPA1A,HSPA1B,HSPA1L | Estrogen signaling pathway:HSPA1A,HSPA1B,HSPA1L | Human papillomavirus infection:HLA-C | Translocation of ZAP-70 to Immunological synapse:HLA-DQA1,HLA-DRA,HLA-DRB1 | Phosphorylation of CD3 and TCR zeta chains:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon gamma signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | PD-1 signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Generation of second messenger molecules:HLA-DQA1,HLA-DRA,HLA-DRB1 | Downstream TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | Interferon Signaling:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | TCR signaling:HLA-DQA1,HLA-DRA,HLA-DRB1 | MHC class II antigen presentation:HLA-DQA1,HLA-DRA,HLA-DRB1 | Costimulation by the CD28 family:HLA-DQA1,HLA-DRA,HLA-DRB1 | Endosomal/Vacuolar pathway:HLA-C | Antigen Presentation: Folding, assembly and peptide loading of class I MHC:HLA-C,TAP2 | ER-Phagosome pathway:HLA-C,TAP2 | Antigen processing-Cross presentation:HLA-C,TAP2 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell:HLA-C,NCR3 | Interferon alpha/beta signaling:HLA-C | Attenuation phase:HSPA1A,HSPA1B,HSPA1L | Infectious disease:HSPA1A,HSPA1B | Butyrophilin (BTN) family interactions:BTNL2 | HSP90 chaperone cycle for steroid hormone receptors (SHR):HSPA1A,HSPA1B,HSPA1L | HSF1-dependent transactivation:HSPA1A,HSPA1B,HSPA1L | TP53 Regulates Transcription of DNA Repair Genes:MDC1 | AUF1 (hnRNP D0) binds and destabilizes mRNA:HSPA1A,HSPA1B | Class I MHC mediated antigen processing & presentation:HLA-C,TAP2 | Regulation of mRNA stability by proteins that bind AU-rich elements:HSPA1A,HSPA1B | Regulation of HSF1-mediated heat shock response:HSPA1A,HSPA1B,HSPA1L | Influenza Infection:HSPA1A,HSPA1B | Cellular response to heat stress:HSPA1A,HSPA1B,HSPA1L | Transcriptional Regulation by TP53:MDC1 | Export of Viral Ribonucleoproteins from Nucleus:HSPA1A,HSPA1B | Neutrophil degranulation:HLA-C,HSPA1A,HSPA1B | Influenza Life Cycle:HSPA1A,HSPA1B | Kawasaki disease:HLA-C,HLA-DRB1,BTNL2 | lymphadenitis:HLA-C,HLA-DRB1,BTNL2 | lymph node disease:HLA-C,HLA-DRB1,BTNL2 | lymphatic system disease:HLA-C,HLA-DRB1,BTNL2 | leprosy:BTNL2,HLA-DRB1 | sarcoidosis:BTNL2,HLA-DQA1,HLA-DRB1,HSPA1L | hypersensitivity reaction type IV disease:BTNL2,HLA-DQA1,HLA-DRB1,HSPA1L | autoimmune disease of endocrine system:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | multiple sclerosis:BTNL2,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | endocrine system disease:HLA-C,HLA-DQA1,HLA-DRB1,HSPA1B,TAP2 | autoimmune thyroiditis:HLA-DRB1 | demyelinating disease:BTNL2,HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | Graves' disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | thyroid gland disease:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | intrahepatic cholestasis:HLA-DQA1,HLA-DRB1 | cavernous hemangioma:HLA-DRA | vascular hemostatic disease:HLA-DRA | hypersensitivity reaction type I disease:HCP5,HLA-C,HLA-DQA1,HLA-DRB1 | primary bacterial infectious disease:BTNL2,HLA-DRB1,TAP2 | hepatitis:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | hyperthyroidism:HLA-C,HLA-DQA1,HLA-DRB1,TAP2 | vitiligo:HLA-C | spondylitis:HLA-C | ankylosing spondylitis:HLA-C | rheumatic fever:HLA-DQA1,HLA-DRB1 | bacterial infectious disease:BTNL2,HLA-DRB1,TAP2 | aplastic anemia:HLA-DQA1,HLA-DRB1 | urticaria:HCP5,HLA-DRB1 | spondyloarthropathy:HLA-C | vasculitis:HLA-DRB1 | hypothyroidism:HLA-DRB1 | Behcet's disease:HLA-DRB1 | hepatitis C:HLA-C,HLA-DQA1,HLA-DRB1,NCR3 | autoimmune disease of the nervous system:HLA-DQA1,HLA-DRA,HLA-DRB1 | arthropathy:HLA-C | hypotrichosis:HLA-DQA1 | tropical spastic paraparesis:HLA-C,HLA-DRB1 | parasitic infectious disease:HLA-DRB1,NCR3,TAP2 | malaria:HLA-DRB1,NCR3 | hair disease:HLA-DQA1 | pulmonary sarcoidosis:HLA-DRB1 | pure red-cell aplasia:HLA-DRB1 | purpura:HLA-DRB1 | cystic echinococcosis:HLA-DRB1,TAP2 | myasthenia gravis:HLA-DQA1,HLA-DRA | neuromuscular junction disease:HLA-DQA1,HLA-DRA | brucellosis:TAP2 | duodenal ulcer:HSPA1A | cholestasis:HLA-DQA1,HLA-DRB1 | autoimmune hepatitis:HLA-DQA1,HLA-DRB1 | hepatitis B:HLA-C,HLA-DQA1,HLA-DRB1 | upper respiratory tract disease:HLA-C,HSPA1A,TAP2 | uveitis:HLA-DQA1,HLA-DRB1,HSPA1L | parasitic protozoa infectious disease:HLA-DRB1,NCR3 | urinary system disease:HLA-DQA1,HLA-DRB1,HSPA1A | multiple myeloma:NCR3 | myeloma:NCR3 | reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | bone marrow cancer:NCR3 | uveal disease:HLA-DQA1,HLA-DRB1,HSPA1L | bile duct disease:HLA-C,HLA-DQA1,HLA-DRB1 | biliary tract disease:HLA-C,HLA-DQA1,HLA-DRB1 | azoospermia:HLA-DRB1,MSH5 | proteinuria:HLA-DRB1 | kidney disease:HLA-DQA1,HLA-DRB1,HSPA1A | alopecia:HLA-DQA1 | autoimmune disease of gastrointestinal tract:HLA-DQA1,HLA-DRB1 | type 1 diabetes mellitus:HLA-DQA1 | blood coagulation disease:HLA-DRA,HLA-DRB1 | allergic rhinitis:HLA-C,TAP2 | hemorrhagic disease:HLA-DRA,HLA-DRB1 | neuromuscular disease:HLA-DQA1,HLA-DRA | thyroiditis:HLA-DRB1 | nasal cavity disease:HLA-C,TAP2 | nose disease:HLA-C,TAP2 | rhinitis:HLA-C,TAP2 | collagen disease:HLA-DRB1,TAP2 | prostatitis:HLA-DRB1,HSPA1A | pancreatitis:HLA-DRB1,HSPA1B | nephritis:HLA-DQA1,HLA-DRB1 | celiac disease:HLA-DQA1,HLA-DRB1 | peptic ulcer disease:HSPA1A | hematopoietic system disease:HLA-DQA1,HLA-DRA,HLA-DRB1 | echinococcosis:HLA-DRB1,TAP2 | anemia:HLA-DQA1,HLA-DRB1 | rheumatic disease:HLA-DRB1,TAP2 | systemic scleroderma:HLA-DRB1,TAP2 | scleroderma:HLA-DRB1,TAP2 | male reproductive system disease:HLA-DRB1,HSPA1A,MSH5 | male infertility:HLA-DRB1,MSH5 | silicosis:HLA-DRB1 | integumentary system disease:HCP5,HLA-DQA1,HLA-DRB1 | sickle cell anemia:HLA-DRB1 | parasitic helminthiasis infectious disease:HLA-DRB1,TAP2 | Human immunodeficiency virus infectious disease:HLA-C,HLA-DRB1 | reactive arthritis:HLA-DRB1 | alcoholic pancreatitis:HSPA1B | interstitial lung disease:HLA-DRB1 | bronchial disease:HSPA1A,HSPA1B,TAP2 | acute pancreatitis:HSPA1B | tuberculosis:BTNL2,HLA-DRB1 | Vogt-Koyanagi-Harada disease:HLA-DRB1 | prostate disease:HLA-DRB1,HSPA1A | pneumoconiosis:HLA-DRB1 | sclerosing cholangitis:HLA-C,HLA-DRB1 | schistosomiasis:HLA-DRB1 | autoimmune disease of peripheral nervous system:HLA-DRB1 | Guillain-Barre syndrome:HLA-DRB1 | pancreas disease:HLA-DRB1,HSPA1B | open-angle glaucoma:HLA-DRB1,TAP2 | influenza:HLA-DRB1 | low tension glaucoma:HLA-DRB1 | chronic leukemia:HLA-DQA1,HLA-DRB1 | Plasmodium falciparum malaria:HLA-DRB1 | lower respiratory tract disease:HLA-DRB1,HSPA1A,HSPA1B,TAP2 | ovarian disease:MSH5 | gastritis:HLA-DRB1 | dermatomyositis:HLA-DRB1 | essential hypertension:HSPA1A,HSPA1B,HSPA1L | female reproductive system disease:MSH5 | osteomyelitis:HLA-DRB1 | neuropathy:HLA-DQA1,HLA-DRA | migraine:HLA-DRB1 | infertility:MSH5 | peripheral nervous system disease:HLA-DRB1 | autoimmune disease of urogenital tract:HLA-DRB1 | primary biliary cirrhosis:HLA-DRB1 | stomach disease:HLA-DRB1 | cholangitis:HLA-C,HLA-DRB1 | Crohn's disease:BTNL2,HSPA1B | lung disease:HLA-DRB1,HSPA1A,HSPA1B | spinal cord disease:HLA-C,HLA-DRB1 | pulmonary edema:HSPA1A | myositis:HLA-DRB1 | Henoch-Schoenlein purpura:HLA-DRB1 | hypersensitivity reaction type III disease:HLA-DRB1 | hypersensitivity vasculitis:HLA-DRB1 | inflammatory bowel disease:HSPA1B,BTNL2 | myopathy:HLA-DRB1 | muscle tissue disease:HLA-DRB1 | nasopharynx carcinoma:HSPA1B | pharynx cancer:HSPA1B | lymphoblastic leukemia:HLA-DRB1,HSPA1A,HSPA1B,HSPA1L | muscular disease:HLA-DRB1 | bronchiectasis:TAP2 | premature ovarian failure:MSH5 | liver cirrhosis:HLA-DRB1 | renal cell carcinoma:HLA-DRB1,TAP2 | glaucoma:HLA-DRB1,TAP2 | esophageal carcinoma:HLA-DRB1,MDC1 | skin disease:HCP5,HLA-DRB1 | retinal disease:HLA-DRB1,TAP2 | female reproductive organ cancer:HLA-DQA1,HLA-DRB1 | primary open angle glaucoma:TAP2 | severe combined immunodeficiency:HLA-DRB1 | retinal degeneration:HLA-DRB1,TAP2 | malignant ovarian surface epithelial-stromal neoplasm:HLA-DQA1,HLA-DRB1 | ovary epithelial cancer:HLA-DQA1,HLA-DRB1 | ovarian carcinoma:HLA-DQA1,HLA-DRB1 | combined T cell and B cell immunodeficiency:HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of exogenous antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation of peptide antigen:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | antigen processing and presentation:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1,TAP2 | interferon-gamma-mediated signaling pathway:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | cellular response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | response to interferon-gamma:HLA-C,HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating signal transduction:HLA-DQA1,HLA-DRA,HLA-DRB1,HSPA1A,HSPA1B,NCR3 | T cell costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-activating cell surface receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | lymphocyte costimulation:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen receptor-mediated signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1 | immune response-regulating cell surface receptor signaling pathway:HLA-DQA1,HLA-DRA,HLA-DRB1,NCR3 | positive regulation of cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent:HLA-C,TAP2 | regulation of leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of exogenous peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | positive regulation of cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of lymphocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | regulation of T cell activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1,LST1 | leukocyte cell-cell adhesion:HLA-DQA1,HLA-DRA,HLA-DRB1 | antigen processing and presentation of peptide antigen via MHC class I:HLA-C,TAP2 | positive regulation of leukocyte activation:HLA-DQA1,HLA-DRA,HLA-DRB1 | lymphocyte mediated immunity:NCR3 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | adaptive immune response:NCR3,TAP2 | natural killer cell mediated cytotoxicity:NCR3 | natural killer cell mediated immunity:NCR3 | T cell mediated cytotoxicity:NCR3 | response to type I interferon:HLA-C | type I interferon signaling pathway:HLA-C | cellular response to type I interferon:HLA-C | tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | leukocyte mediated cytotoxicity:NCR3 | positive regulation of defense response:HSPA1A,HSPA1B,NCR3 | positive regulation of cytokine production:HSPA1A,HSPA1B | T cell mediated immunity:NCR3 | protein refolding:HSPA1A,HSPA1B,HSPA1L | regulation of immune effector process:NCR3 | positive regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | regulation of lymphocyte mediated immunity:NCR3 | regulation of innate immune response:HSPA1A,HSPA1B,NCR3 | cellular response to tumor necrosis factor:HSPA1A,HSPA1B | negative regulation of protein ubiquitination:HSPA1A,HSPA1B | cell killing:NCR3 | positive regulation of lymphocyte mediated immunity:NCR3 | regulation of lymphocyte proliferation:LST1 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | regulation of mononuclear cell proliferation:LST1 | negative regulation of signal transduction in absence of ligand:HSPA1A,HSPA1B | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of natural killer cell mediated cytotoxicity:NCR3 | positive regulation of adaptive immune response:NCR3 | regulation of natural killer cell mediated immunity:NCR3 | negative regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of leukocyte proliferation:LST1 | mRNA catabolic process:HSPA1A,HSPA1B | response to tumor necrosis factor:HSPA1A,HSPA1B | response to heat:HSPA1A,HSPA1B,HSPA1L | antigen processing and presentation via MHC class Ib:TAP2 | positive regulation of nitric oxide biosynthetic process:DDAH2 | positive regulation of nitric oxide metabolic process:DDAH2 | regulation of leukocyte mediated immunity:NCR3 | activation of innate immune response:HSPA1A,HSPA1B | regulation of T cell mediated cytotoxicity:NCR3 | positive regulation of leukocyte mediated immunity:NCR3 | negative regulation of inclusion body assembly:HSPA1A,HSPA1B | antigen processing and presentation of endogenous antigen:TAP2 | positive regulation of interleukin-8 production:HSPA1A,HSPA1B | microtubule nucleation:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | regulation of leukocyte mediated cytotoxicity:NCR3 | regulation of DNA-templated transcription in response to stress:HSPA1A | nucleotide-binding oligomerization domain containing 2 signaling pathway:HSPA1A,HSPA1B | regulation of protein ubiquitination:HSPA1A,HSPA1B | RNA catabolic process:HSPA1A,HSPA1B | positive regulation of reactive oxygen species biosynthetic process:DDAH2 | immune response to tumor cell:NCR3 | response to topologically incorrect protein:HSPA1A,HSPA1L | positive regulation of T cell mediated cytotoxicity:NCR3 | regulation of tumor necrosis factor-mediated signaling pathway:HSPA1A,HSPA1B | regulation of inclusion body assembly:HSPA1A,HSPA1B | innate immune response-activating signal transduction:HSPA1A,HSPA1B | regulation of nitric oxide biosynthetic process:DDAH2 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:NCR3 | lymphocyte proliferation:LST1 | mononuclear cell proliferation:LST1 | regulation of cell killing:NCR3 | regulation of protein modification by small protein conjugation or removal:HSPA1A,HSPA1B | regulation of interleukin-8 production:HSPA1A,HSPA1B | RNA phosphodiester bond hydrolysis:HSPA1A | regulation of mitotic spindle assembly:HSPA1A,HSPA1B | regulation of adaptive immune response:NCR3 | response to temperature stimulus:HSPA1A,HSPA1B,HSPA1L | response to tumor cell:NCR3 | leukocyte proliferation:LST1 | positive regulation of NF-kappaB transcription factor activity:HSPA1A,HSPA1B | regulation of protein stability:HSPA1A,HSPA1B | nitric oxide biosynthetic process:DDAH2 | interleukin-8 production:HSPA1A,HSPA1B | positive regulation of protein complex assembly:HSPA1A,HSPA1B | interaction with host:HSPA1A,HSPA1B | signal transduction in absence of ligand:HSPA1A,HSPA1B | extrinsic apoptotic signaling pathway in absence of ligand:HSPA1A,HSPA1B | positive regulation of microtubule polymerization:HSPA1A,HSPA1B | inclusion body assembly:HSPA1A,HSPA1B | positive regulation of natural killer cell mediated immunity:NCR3 | nitric oxide metabolic process:DDAH2 | natural killer cell activation:NCR3 | reactive nitrogen species metabolic process:DDAH2 | cellular response to topologically incorrect protein:HSPA1A | protein stabilization:HSPA1A,HSPA1B | positive regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | regulation of cellular response to heat:HSPA1A,HSPA1B,HSPA1L | mRNA cleavage:HSPA1A | positive regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of spindle assembly:HSPA1A,HSPA1B | positive regulation of reactive oxygen species metabolic process:DDAH2 | regulation of organelle assembly:HSPA1A,HSPA1B | regulation of transcription from RNA polymerase II promoter in response to stress:HSPA1A | regulation of reactive oxygen species biosynthetic process:DDAH2 | positive regulation of response to cytokine stimulus:HSPA1A,HSPA1B | response to endoplasmic reticulum stress:HSPA1A | positive regulation of immune effector process:NCR3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:HSPA1A | pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | positive regulation of T cell mediated immunity:NCR3 | spindle assembly:HSPA1A,HSPA1B | nucleic acid phosphodiester bond hydrolysis:HSPA1A | regulation of mitotic spindle organization:HSPA1A,HSPA1B | positive regulation of response to endoplasmic reticulum stress:HSPA1A | positive regulation of leukocyte mediated cytotoxicity:NCR3 | reactive oxygen species biosynthetic process:DDAH2 | negative regulation of immune system process:LST1 | positive regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | negative regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | regulation of T cell mediated immunity:NCR3 | nucleotide-binding oligomerization domain containing signaling pathway:HSPA1A,HSPA1B | regulation of microtubule polymerization:HSPA1A,HSPA1B | nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway:HSPA1A,HSPA1B | regulation of spindle organization:HSPA1A,HSPA1B | mitotic spindle assembly:HSPA1A,HSPA1B | protein homooligomerization:LY6G5C | viral life cycle:HSPA1A,HSPA1B | mitochondrial outer membrane permeabilization:HSPA1A | positive regulation of protein polymerization:HSPA1A,HSPA1B | regulation of proteolysis involved in cellular protein catabolic process:HSPA1A | cellular response to heat:HSPA1A,HSPA1B,HSPA1L | positive regulation of catabolic process:HSPA1A | viral entry into host cell:HSPA1A,HSPA1B | positive regulation of cellular protein catabolic process:HSPA1A | positive regulation of cell killing:NCR3 | extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | mRNA cleavage involved in mRNA processing:HSPA1A | microtubule polymerization:HSPA1A,HSPA1B | synapsis:MSH5 | protein folding:HSPA1A,HSPA1B,HSPA1L | positive regulation of protein catabolic process:HSPA1A | positive regulation of cellular catabolic process:HSPA1A | positive regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | negative regulation of growth:HSPA1A,HSPA1B | regulation of mRNA metabolic process:HSPA1A | entry into host cell:HSPA1A,HSPA1B | entry into host:HSPA1A,HSPA1B | entry into cell of other organism involved in symbiotic interaction:HSPA1A,HSPA1B | entry into other organism involved in symbiotic interaction:HSPA1A,HSPA1B | regulation of RNA stability:HSPA1A | mitochondrial outer membrane permeabilization involved in programmed cell death:HSPA1A | regulation of monooxygenase activity:DDAH2 | positive regulation of cellular component biogenesis:HSPA1A,HSPA1B | regulation of cellular protein catabolic process:HSPA1A | positive regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | protein polymerization:HSPA1A,HSPA1B | positive regulation of mitochondrial membrane permeability:HSPA1A | mitochondrial membrane organization:HSPA1A | reactive oxygen species metabolic process:DDAH2 | regulation of mitochondrial membrane permeability involved in apoptotic process:HSPA1A | positive regulation of membrane permeability:HSPA1A | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress:HSPA1A | homologous chromosome segregation:MSH5 | regulation of microtubule polymerization or depolymerization:HSPA1A,HSPA1B | regulation of mRNA catabolic process:HSPA1A | cytoplasmic pattern recognition receptor signaling pathway:HSPA1A,HSPA1B | cellular amino acid metabolic process:DDAH2 | regulation of DNA binding transcription factor activity:HSPA1A,HSPA1B | regulation of protein complex assembly:HSPA1A,HSPA1B | regulation of extrinsic apoptotic signaling pathway:HSPA1A,HSPA1B | spindle organization:HSPA1A,HSPA1B | regulation of protein catabolic process:HSPA1A | negative regulation of mitotic cell cycle:MDC1 | chromosome organization involved in meiotic cell cycle:MSH5 | regulation of cytokine-mediated signaling pathway:HSPA1A,HSPA1B | RNA splicing, via endonucleolytic cleavage and ligation:HSPA1A | cellular response to oxidative stress:HSPA1A,HSPA1B | regulation of reactive oxygen species metabolic process:DDAH2 | regulation of response to cytokine stimulus:HSPA1A,HSPA1B | regulation of response to endoplasmic reticulum stress:HSPA1A | response to unfolded protein:HSPA1A,HSPA1L | response to oxidative stress:HSPA1A,HSPA1B | microtubule polymerization or depolymerization:HSPA1A,HSPA1B | negative regulation of leukocyte activation:LST1 | 0.138717 | 0.0719203 | 1.26842976725521 | 0.182096 | 0.0671535 | 2.16877543058183 | 0.0473308 | 0.129231 | 0.146192924121122 | 0.442409 | 0.0785964 | 7.68586933134742 | 0.226148 | 0.0885403 | 1.96849054877387 | 0.762177 | 0.148411 | 6.4389618561406 | 0.0880902 | 0.0590555 | 0.866643150265828 | 0.0552861 | 0.0699004 | 0.367416183566193 | 0.12949 | 0.105908 | 0.653917076332865 | 0.00242737 | 0.0391789 | 0.0220031037693031 | 0.00568065 | 0.0654895 | 0.0311077000608549 | 0.0632021 | 0.0676403 | 0.455801686844497 | 0.0654682 | 0.0373135 | 1.1005231308849 | 0.118796 | 0.0440301 | 2.15650373432113 | 0.00718208 | 0.0226286 | 0.124390135026379 | 0.0080732 | 0.0286727 | 0.10886524581185 | 0.00406787 | 0.0364274 | 0.0404411034782556 | 0.308234 | 0.117677 | 2.0517132327087 | 0.35261 | 0.153655 | 1.65952019118987 | 0.243159 | 0.182511 | 0.737055566257698 | ||||||||||||||
rs79589801:211054061:C:T | novel3 | 1 | 211054061 | 1q32.2 | T | C | 0.807 | 0 | PROG WOMEN | 1261 | 7.67160204647787 | 0.0143406026962728 | 1.68352 | KCNH1 (0 kb, intron/Intron/MODIFIER); IPO8P1 (18 kb); HHAT (200 kb) | NA | cell type benign neoplasm:KCNH1 | esophageal carcinoma:KCNH1 | adenoma:KCNH1 | positive regulation of mitochondrion organization:HHAT | protein acylation:HHAT | regulation of mitochondrion organization:HHAT | positive regulation of protein targeting to mitochondrion:HHAT | protein lipidation:HHAT | lipoprotein metabolic process:HHAT | smoothened signaling pathway:HHAT | regulation of protein targeting to mitochondrion:HHAT | lipoprotein biosynthetic process:HHAT | positive regulation of protein transport:HHAT | positive regulation of establishment of protein localization to mitochondrion:HHAT | mitochondrial transport:HHAT | response to calcium ion:KCNH1 | regulation of establishment of protein localization to mitochondrion:HHAT | regulation of protein targeting:HHAT | 0.371084 | 0.0735692 | 6.30477494827276 | 0.0592719 | 0.0675164 | 0.420033581034919 | 0.808409 | 0.144331 | 7.67160204647787 | 0.198628 | 0.0813197 | 1.83366463011977 | 0.0418087 | 0.0890097 | 0.194745243799519 | 0.487796 | 0.160745 | 2.60261624434272 | 0.0944862 | 0.0607229 | 0.921340220273065 | 0.0743217 | 0.0700951 | 0.538804714807546 | 0.142922 | 0.113353 | 0.682402528607138 | -0.00908651 | 0.0462169 | 0.0735875779106778 | 0.0140427 | 0.0544118 | 0.0988992877532313 | -0.0509134 | 0.0805193 | 0.278039426627493 | 0.0389127 | 0.04512 | 0.410662638183606 | 0.0606509 | 0.0455418 | 0.737698447226097 | 0.0339862 | 0.0795966 | 0.174318184685994 | -0.0184466 | 0.0441428 | 0.170034031062263 | -0.00361402 | 0.0512728 | 0.0251168059185839 | -0.0623922 | 0.0774739 | 0.376101820948918 | 0.0169397 | 0.0263222 | 0.284109420532446 | -0.0100584 | 0.0324451 | 0.121161216303143 | 0.0573502 | 0.0441447 | 0.712431150157221 | 0.195352 | 0.120996 | 0.972365034222456 | 0.163873 | 0.153948 | 0.541644723118617 | 0.243531 | 0.195369 | 0.671616318697948 | ||||
rs858516:7537098:C:T | 17 | 7537098 | 17p13.1 | T | C | 0.861 | 5 | TESTO MEN | 4291 | 7.6414408274504 | 0.583872407364251 | 0.0289115 | SHBG (0.4 kb, near gene/Downstream gene/MODIFIER); SAT2 (5.9 kb); ATP1B2 (13 kb); FXR2 (19 kb); TP53 (28 kb); MPDU1 (41 kb); SOX15 (44 kb) | 0.981 Sex hormone-binding globulin levels // 0.981 Androgen levels // 0.911 Red cell distribution width // 0.791 Blood protein levels // 0.629 Esophageal squamous cell carcinoma | - | AC113189.5 | ACAP1 | ASGR1 | ASGR2 | ATP1B2 | C17orf49 | C17orf81 | CD68 | CHRNB1 | CNTROB | CTC1 | CTDNEP1 | EIF4A1 | EIF5A | FGF11 | FXR2 | KDM6B | LOC100130387 | LSMD1 | MPDU1 | NLGN2 | NM 172089 | PLSCR3 | POLR2A | RNASEK | RP11-186B7.4 | SAT2 | SENP3 | SENP3-EIF4A1 | SHBG | SNORA48 | SOX15 | SPEM1 | TMEM102 | TMEM88 | TMEM95 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | TRAPPC1 | TXNDC17 | ZBTB4 | ANKRD34B | EIF4A1P2 | Herpes simplex infection:TP53 | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:TP53 | Human T-cell leukemia virus 1 infection:TP53 | Thyroid hormone synthesis:ASGR1,ATP1B2 | Huntington disease:TP53 | Kaposi sarcoma-associated herpesvirus infection:TP53 | Ferroptosis:SAT2,TP53 | Cellular senescence:TP53 | Transcriptional misregulation in cancer:TP53 | Viral carcinogenesis:TP53 | Small cell lung cancer:TP53 | Human cytomegalovirus infection:TP53 | Lysosome:CD68 | Endocrine resistance:TP53 | Aldosterone synthesis and secretion:ATP1B2 | RNA transport:EIF4A1,FXR2 | Measles:TP53 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:TP53 | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | Pre-NOTCH Transcription and Translation:TP53 | Association of TriC/CCT with target proteins during biosynthesis:TP53 | Pre-NOTCH Expression and Processing:TP53 | Transcriptional Regulation by TP53:TP53 | Asparagine N-linked glycosylation:ASGR1,MPDU1 | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | TP53 Regulates Metabolic Genes:TP53 | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Regulation of TP53 Activity through Phosphorylation:TP53 | Chaperonin-mediated protein folding:TP53 | Formation of Senescence-Associated Heterochromatin Foci (SAHF):TP53 | Protein folding:TP53 | Signaling by NOTCH:TP53 | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | endocrine system disease:SHBG,TP53 | lymphatic system disease:TNFSF13,TP53 | intrahepatic cholestasis:SHBG,TP53 | Graves' disease:TP53 | autoimmune disease of endocrine system:TP53 | hyperthyroidism:TP53 | hypersensitivity reaction type I disease:TP53 | hepatitis:EIF4A1,TP53 | hepatitis C:EIF4A1,TP53 | aplastic anemia:TP53 | hypotrichosis:TNFSF13 | duodenal ulcer:TP53 | cholestasis:SHBG,TP53 | urinary system disease:TNFSF12,TNFSF13,TP53 | multiple myeloma:TNFSF13,TP53 | myeloma:TNFSF13,TP53 | bone marrow cancer:TNFSF13,TP53 | primary bacterial infectious disease:TP53 | bile duct disease:SHBG,TP53 | hair disease:TNFSF13 | vitiligo:TP53 | biliary tract disease:SHBG,TP53 | thyroid gland disease:TP53 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | hepatitis B:TP53 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | keratoconjunctivitis sicca:TP53 | keratoconjunctivitis:TP53 | bacterial infectious disease:TP53 | dry eye syndrome:TP53 | lacrimal apparatus disease:TP53 | gestational diabetes:SHBG | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | male reproductive system disease:SHBG,TP53 | male infertility:SHBG,TP53 | hyperandrogenism:SHBG | polycystic ovary syndrome:SHBG | peptic ulcer disease:TP53 | integumentary system disease:TNFSF12,TNFSF13,TP53 | Human immunodeficiency virus infectious disease:TP53 | hematopoietic system disease:TNFSF13,TP53 | colon carcinoma:TNFSF13,TP53 | intestinal cancer:SAT2,TNFSF13,TP53 | reproductive system disease:SHBG,TP53 | sex differentiation disease:SHBG | germ cell and embryonal cancer:TP53 | sporadic breast cancer:SHBG,TP53 | malignant glioma:ATP1B2,TP53 | mammary Paget's disease:TP53 | open-angle glaucoma:TP53 | pancreas disease:SHBG | varicose veins:TP53 | influenza:TP53 | astrocytoma:TP53 | interstitial lung disease:TNFSF12 | gastritis:TP53 | gonadal dysgenesis:SHBG | gonadal disease:SHBG | breast adenocarcinoma:TP53 | myopathy:SHBG,TNFSF12,TNFSF13,TP53 | muscle tissue disease:SHBG,TNFSF12,TNFSF13,TP53 | neuropathy:TP53 | tuberculosis:TP53 | osteoporosis:SHBG | Sjogren's syndrome:TNFSF13 | bone resorption disease:SHBG | muscular disease:SHBG,TNFSF12,TNFSF13,TP53 | alopecia areata:TNFSF13 | chronic leukemia:TP53 | cell type benign neoplasm:TP53 | teratoma:TP53 | Alzheimer's disease:SHBG,TP53 | non-small cell lung carcinoma:EIF5A,TNFSF13,TP53 | colon cancer:TNFSF13,TP53 | tauopathy:SHBG,TP53 | cholangitis:TP53 | colorectal cancer:TNFSF13,TP53 | stomach disease:TP53 | large intestine cancer:TNFSF13,TP53 | gallbladder carcinoma:TP53 | esophagus squamous cell carcinoma:TP53 | gallbladder cancer:TP53 | female reproductive organ cancer:SHBG,TP53 | infertility:SHBG,TP53 | neurofibroma:TP53 | anemia:TP53 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12,TP53 | lung adenocarcinoma:EIF5A,TP53 | cardiomyopathy:TNFSF12,TP53 | keratoacanthoma:TP53 | primary immunodeficiency disease:TP53 | liver cirrhosis:TNFSF13,TP53 | gallbladder disease:TP53 | pleural cancer:TP53 | malignant pleural mesothelioma:TP53 | esophageal carcinoma:TP53 | mouth disease:TP53 | lung disease:TNFSF12,TP53 | chronic lymphocytic leukemia:TNFSF13,TP53 | ataxia telangiectasia:TP53 | vein disease:TP53 | dilated cardiomyopathy:TNFSF12,TP53 | adenoma:TP53 | acute myocardial infarction:TNFSF12,TP53 | gastric adenocarcinoma:TP53 | coronary artery disease:TNFSF12,TP53 | integumentary system cancer:TP53 | skin cancer:TP53 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of DNA biosynthetic process:TP53 | RNA secondary structure unwinding:EIF4A1 | regulation of telomerase activity:TP53 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | DNA biosynthetic process:TP53 | replicative senescence:TP53 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15,TP53 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | regulation of cell cycle G2/M phase transition:TP53 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A,TP53 | nuclear transport:EIF5A,TP53 | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | negative regulation of DNA biosynthetic process:TP53 | positive regulation of reactive oxygen species metabolic process:EIF5A,TP53 | protein stabilization:ATP1B2,TMEM88 | positive regulation of cell cycle:SOX15,TP53 | negative regulation of growth:TP53 | peptidyl-tyrosine phosphorylation:TP53 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TP53 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13,TP53 | negative regulation of translation:FXR2 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TP53 | cell cycle G2/M phase transition:TP53 | protein N-linked glycosylation via asparagine:ASGR1 | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | peptidyl-asparagine modification:ASGR1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:FXR2 | regulation of mitotic cell cycle phase transition:TP53 | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:ASGR1 | regulation of lymphocyte apoptotic process:TP53 | mitochondrial outer membrane permeabilization:TP53 | regulation of protein stability:ATP1B2,TMEM88 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of cell cycle phase transition:TP53 | aging:EIF5A,TP53 | negative regulation of cell growth:TP53 | protein export from nucleus:EIF5A,TP53 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:TP53 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | mitochondrial outer membrane permeabilization involved in programmed cell death:TP53 | positive regulation of mitochondrial membrane permeability:TP53 | regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | positive regulation of membrane permeability:TP53 | regulation of DNA-templated transcription in response to stress:TP53 | mRNA catabolic process:EIF4A1,TNFSF13 | lymphocyte apoptotic process:TP53 | protein N-linked glycosylation:ASGR1 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | positive regulation of protein complex assembly:TP53 | cellular response to UV:TP53 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A,TP53 | regulation of mitochondrial membrane permeability:TP53 | execution phase of apoptosis:TP53 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | regulation of leukocyte apoptotic process:TP53 | mitochondrial membrane organization:TP53 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | potassium ion homeostasis:ATP1B2 | positive regulation of leukocyte mediated immunity:TNFSF13 | DNA geometric change:TP53 | cellular response to extracellular stimulus:ASGR1,TP53 | regulation of membrane permeability:TP53 | regulation of fibroblast proliferation:TP53 | regulation of ion transmembrane transporter activity:ATP1B2 | fibroblast proliferation:TP53 | regulation of apoptotic signaling pathway:TNFSF12,TP53 | regulation of transmembrane transporter activity:ATP1B2 | RNA catabolic process:EIF4A1,TNFSF13 | negative regulation of hydrolase activity:TP53 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:ATP1B2,CHRNB1 | autophagy:TP53 | process utilizing autophagic mechanism:TP53 | cell aging:TP53 | leukocyte apoptotic process:TP53 | regulation of striated muscle tissue development:SOX15 | regulation of transporter activity:ATP1B2 | G0 to G1 transition:SOX15 | regulation of muscle tissue development:SOX15 | regulation of canonical Wnt signaling pathway:TMEM88 | cellular response to light stimulus:TP53 | -0.00899421 | 0.0182025 | 0.206716121971134 | -0.0316458 | 0.0161621 | 1.29729294737877 | 0.0544418 | 0.0362811 | 0.874616339532293 | 0.0119888 | 0.0200256 | 0.260067079805183 | -0.00929842 | 0.0213315 | 0.178500882812612 | 0.0534385 | 0.0416692 | 0.698737718919011 | -0.00688839 | 0.0149412 | 0.190558806696773 | -0.00757001 | 0.0168041 | 0.185464746156286 | -0.00645146 | 0.0292606 | 0.0832524097481363 | -0.0159226 | 0.0103467 | 0.90718464875274 | -0.00963308 | 0.0129463 | 0.340247285075646 | -0.0238031 | 0.0165307 | 0.824241827746707 | 0.0377103 | 0.0102964 | 3.60240582739658 | 0.0602525 | 0.0107805 | 7.6414408274504 | 0.01255 | 0.0176137 | 0.32226168394398 | 0.03035 | 0.00988548 | 2.66970394858558 | 0.0364934 | 0.0121572 | 2.57124176048244 | 0.0197124 | 0.0158529 | 0.670195477835931 | 0.00433439 | 0.00596275 | 0.330422806768362 | 0.00134781 | 0.00772715 | 0.0647290909533666 | 0.00781189 | 0.00928445 | 0.3978021420592 | -0.0148383 | 0.03008 | 0.206308774243237 | -0.046218 | 0.037117 | 0.671041722948794 | 0.0492919 | 0.0512791 | 0.472669182266429 | |
rs12913657:51000968:T:C | 15 | 51000968 | 15q21.2 | C | T | 0.985 | 3 | E2 MEN | 4191 | 7.60720283649909 | 0.144226795514197 | 1.91236 | SPPL2A (0 kb, intron/Intron/MODIFIER); RN7SL354P (20 kb); TRPM7 (22 kb); USP50 (160 kb) | 0.494 Chloride levels // 0.365 Creatinine levels // 0.365 Glomerular filtration rate // 0.303 Fibrinogen levels | AC012100.1 | AP4E1 | CYP19A1 | DCAF13P3 | GABPB1 | GABPB1-AS1 | GLDN | HDC | RP11-108K3.2 | RP11-507J18.1 | RP11-562A8.4 | RP11-562A8.5 | SPPL2A | TMOD2 | TNFAIP8L3 | TRPM7 | USP50 | USP8 | NOD-like receptor signaling pathway:TRPM7 | Endocytosis:USP8 | Cellular senescence:TRPM7 | Lysosome:AP4E1 | cell type benign neoplasm:TRPM7 | adenoma:TRPM7 | cerebral palsy:AP4E1 | tumor necrosis factor-mediated signaling pathway:SPPL2A | cellular response to tumor necrosis factor:SPPL2A | response to tumor necrosis factor:SPPL2A | protein tetramerization:TRPM7 | actomyosin structure organization:TRPM7 | magnesium ion homeostasis:TRPM7 | regulation of tumor necrosis factor-mediated signaling pathway:SPPL2A | protein deubiquitination:USP50,USP8 | calcium ion transmembrane transport:TRPM7 | protein modification by small protein removal:USP50,USP8 | -0.0250542 | 0.0250237 | 0.499161366090353 | -0.0305952 | 0.0227782 | 0.746080739425089 | -0.0216453 | 0.0486004 | 0.183063060172214 | -0.0198186 | 0.027534 | 0.326298217914485 | -0.0484316 | 0.0300146 | 0.97123766724569 | 0.0231506 | 0.0548808 | 0.171808156473022 | -0.0222705 | 0.0205393 | 0.555388491632315 | -0.0297731 | 0.0236533 | 0.681216917565549 | -0.0144854 | 0.0384955 | 0.150694242487142 | 0.00873582 | 0.0144406 | 0.263433000884533 | 0.00113984 | 0.0180165 | 0.0224803324170433 | 0.0186554 | 0.0231761 | 0.375866476856108 | 0.00982807 | 0.01433 | 0.307316963107464 | 0.017249 | 0.0150555 | 0.598735628436851 | 0.00787792 | 0.0242371 | 0.127753962904598 | -0.0702482 | 0.0138291 | 6.42254496738951 | -0.0939528 | 0.0168515 | 7.60720283649909 | -0.0371082 | 0.0223343 | 1.01495454276852 | -0.00771838 | 0.00831276 | 0.452040789412814 | -0.0139537 | 0.0107671 | 0.709992115274119 | -2.89743E-6 | 0.0129717 | 7.73112986885129E-5 | -0.0128825 | 0.0415222 | 0.12124905398719 | -0.0113735 | 0.0522356 | 0.0821427860970056 | -0.01118 | 0.0684392 | 0.0603375037469278 | |||
rs140935700:90611965:G:A | 5 | 90611965 | 5q14.3 | A | G | 0.843 | 0 | PROG ALL | 2070 | 7.59606486827327 | 0.0135640096618357 | LUCAT1 (1.7 kb, near gene/Upstream gene/MODIFIER); RP11-213H15.4 (1.7 kb, near gene/Upstream gene/MODIFIER); RNU4-90P (45 kb); ARRDC3 (53 kb) | NA | negative regulation of homeostatic process:ARRDC3 | regulation of heat generation:ARRDC3 | regulation of homeostatic process:ARRDC3 | regulation of protein modification by small protein conjugation or removal:ARRDC3 | heat generation:ARRDC3 | multicellular organismal homeostasis:ADGRV1,ARRDC3 | 0.424947 | 0.0759846 | 7.59606486827327 | 0.173325 | 0.0756013 | 1.65712549321755 | 0.160694 | 0.0841539 | 1.24923557802314 | 0.192876 | 0.0997037 | 1.27358986833274 | 0.104131 | 0.149591 | 0.312835928053133 | 0.0505984 | 0.062831 | 0.375993422958432 | 0.0757351 | 0.0786244 | 0.474187106523548 | 0.00734434 | 0.104962 | 0.0249194456508963 | -0.0547025 | 0.0502371 | 0.55877003623766 | 0.0204303 | 0.065222 | 0.122573362861873 | -0.143233 | 0.0774722 | 1.19056352128226 | -0.0461553 | 0.0541611 | 0.404381443407344 | -0.112138 | 0.0753823 | 0.863723464339708 | -0.0898569 | 0.0485192 | 1.19363142031037 | -0.127409 | 0.0617754 | 1.40710408689536 | -0.00835296 | 0.0285195 | 0.113729862192329 | 0.0427791 | 0.0385616 | 0.573049786345024 | -0.056993 | 0.0425903 | 0.742703100104448 | 0.155525 | 0.125532 | 0.666516451840995 | 0.0734962 | 0.174024 | 0.172080452346316 | 0.268086 | 0.180637 | 0.85936313327873 | ||||||||||||||||
rs8042456:40290476:G:T | 15 | 40290476 | 15q15.1 | T | G | 0.975 | 8 | DHEAS ALL | 7659 | 7.5749583896058 | 0.590634547591069 | 0.039112 | EIF2AK4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); SRP14 (37 kb); SRP14-AS1 (41 kb); H3F3AP1 (47 kb) | 0.74 Endometrial cancer // 0.74 Endometrial endometrioid carcinoma // 0.438 Dehydroepiandrosterone sulphate levels // 0.324 Ewing sarcoma | BMF | C15orf57 | CHST14 | EIF2AK4 | FSIP1 | LOC100131089 | PLCB2 | RHOV | RP11-521C20.2 | RP11-521C20.4 | SRP14 | SRP14-AS1 | THBS1 | Herpes simplex infection:EIF2AK4 | Phagosome:THBS1 | Influenza A:EIF2AK4 | Epstein-Barr virus infection:EIF2AK4 | MicroRNAs in cancer:THBS1 | Malaria:THBS1 | Protein processing in endoplasmic reticulum:EIF2AK4 | Measles:EIF2AK4 | hepatitis:THBS1 | hepatitis C:THBS1 | urinary system disease:THBS1 | myeloma:THBS1 | bone marrow cancer:THBS1 | proteinuria:THBS1 | kidney disease:THBS1 | collagen disease:THBS1 | hemorrhagic disease:THBS1 | blood coagulation disease:THBS1 | rheumatic disease:THBS1 | systemic scleroderma:THBS1 | scleroderma:THBS1 | hemorrhagic fever with renal syndrome:THBS1 | hematopoietic system disease:THBS1 | osteoporosis:THBS1 | bone resorption disease:THBS1 | cell type benign neoplasm:THBS1 | thyroid cancer:THBS1 | myositis:THBS1 | myopathy:THBS1 | muscle tissue disease:THBS1 | muscular disease:THBS1 | keratoacanthoma:THBS1 | Down syndrome:THBS1 | female reproductive organ cancer:THBS1 | adenoma:THBS1 | coronary artery disease:THBS1 | integumentary system cancer:THBS1 | skin cancer:THBS1 | antigen processing and presentation:THBS1 | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II:THBS1 | modulation by virus of host morphology or physiology:EIF2AK4 | modification by symbiont of host morphology or physiology:EIF2AK4 | modulation by virus of host process:EIF2AK4 | positive regulation of cell activation:THBS1 | modulation by symbiont of host cellular process:EIF2AK4 | positive regulation of leukocyte activation:THBS1 | regulation of leukocyte activation:THBS1 | modification of morphology or physiology of other organism involved in symbiotic interaction:EIF2AK4 | cellular response to tumor necrosis factor:THBS1 | chronic inflammatory response:THBS1 | T cell activation:EIF2AK4 | response to tumor necrosis factor:THBS1 | modification of morphology or physiology of other organism:EIF2AK4 | regulation of immune effector process:EIF2AK4 | adaptive immune response:EIF2AK4 | regulation of antigen processing and presentation:THBS1 | apoptotic cell clearance:THBS1 | positive regulation of adaptive immune response:EIF2AK4 | positive regulation of translation:EIF2AK4,THBS1 | interaction with host:EIF2AK4 | positive regulation of reactive oxygen species metabolic process:THBS1 | positive regulation of cytokine production:THBS1 | cellular response to amino acid starvation:EIF2AK4 | positive regulation of cellular amide metabolic process:EIF2AK4,THBS1 | regulation of adaptive immune response:EIF2AK4 | cellular response to fibroblast growth factor stimulus:THBS1 | response to drug:SRP14,THBS1 | positive regulation of translational initiation:EIF2AK4 | response to fibroblast growth factor:THBS1 | phagocytosis:THBS1 | regulation of autophagy:EIF2AK4 | regulation of defense response to virus:EIF2AK4 | cellular response to UV:EIF2AK4 | macrophage activation:THBS1 | regulation of macrophage activation:THBS1 | negative regulation of immune system process:THBS1 | regulation of protein kinase B signaling:THBS1 | negative regulation of hydrolase activity:THBS1 | negative regulation of chemotaxis:THBS1 | regulation of mononuclear cell migration:THBS1 | negative regulation of ion transmembrane transport:THBS1 | autophagy:EIF2AK4 | process utilizing autophagic mechanism:EIF2AK4 | regulation of protein processing:THBS1 | negative regulation of proteolysis:THBS1 | blood vessel endothelial cell migration:THBS1 | sprouting angiogenesis:THBS1 | negative regulation of transmembrane transport:THBS1 | regulation of leukocyte chemotaxis:THBS1 | regulation of protein maturation:THBS1 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway:THBS1 | -0.0182924 | 0.0172011 | 0.54105108096779 | 8.1969E-4 | 0.015491 | 0.018721539875009 | -0.0627281 | 0.0340454 | 1.18439170604328 | -0.032772 | 0.0189159 | 1.0791835043848 | -0.0334472 | 0.020398 | 0.994411991224136 | -0.0363114 | 0.0384818 | 0.461305645589146 | -0.0308192 | 0.0141067 | 1.53727565510212 | -0.0291568 | 0.0160652 | 1.15639103786198 | -0.0376373 | 0.0269718 | 0.786952651333662 | -0.0579139 | 0.0104117 | 7.5749583896058 | -0.0457575 | 0.0129856 | 3.37106267248369 | -0.0744006 | 0.0167153 | 5.06830775491086 | -0.0322406 | 0.0102395 | 2.78507936276593 | -0.0257609 | 0.0108239 | 1.76163017946666 | -0.0432231 | 0.0173593 | 1.89355071148576 | -0.0173301 | 0.0100157 | 1.07790127051484 | -0.0314629 | 0.0122803 | 1.98273287276361 | -0.00277934 | 0.0160156 | 0.0643783816591027 | -0.00109653 | 0.00597187 | 0.068381968259491 | 0.00217156 | 0.00771272 | 0.108861897706357 | -0.00439304 | 0.00934906 | 0.194884672804727 | 0.0480302 | 0.028426 | 1.03976522311903 | 0.0354169 | 0.0355951 | 0.494954536364729 | 0.0730345 | 0.0471877 | 0.913113639587595 | |||
rs4227:7491177:G:T | 17 | 7491177 | 17p13.1 | T | G | 0.905 | 6 | TESTO MEN | 4291 | 7.46210789923732 | 0.71889419715684 | 0.043823 | MPDU1 (0 kb, 3'utr/3 prime UTR/MODIFIER | nc-exon/Non coding transcript exon/MODIFIER | intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); SOX15 (0.32 kb, near gene/Downstream gene/MODIFIER); FXR2 (3.4 kb, near gene/Downstream gene/MODIFIER); AC113189.5 (3.8 kb, near gene/Upstream gene/MODIFIER); CD68 (5.7 kb); SNORA67 (5.8 kb); EIF4A1 (8.9 kb); SENP3-EIF4A1 (9.1 kb); SNORD10 (11 kb); SNORA48 (13 kb); SENP3 (16 kb); SHBG (26 kb); TNFSF12 (26 kb); TNFSF13 (26 kb); TNFSF12-TNFSF13 (26 kb); SAT2 (38 kb) | 1 IgA nephropathy // 0.799 Testosterone levels // 0.799 Sex hormone-binding globulin levels // 0.595 Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.595 Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) // 0.595 Systolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.595 Diastolic blood pressure x smoking status (ever vs never) interaction (2df test) // 0.579 Blood protein levels // 0.541 Chin dimples | - | AC113189.5 | ACAP1 | ASGR2 | ATP1B2 | C17orf61 | C17orf61-PLSCR3 | C17orf81 | CD68 | CHRNB1 | CTDNEP1 | CYB5D1 | EFNB3 | EIF4A1 | EIF5A | FGF11 | FXR2 | KCTD11 | LOC100130387 | MPDU1 | NLGN2 | PLSCR3 | POLR2A | RP11-186B7.4 | SAT2 | SENP3 | SENP3-EIF4A1 | SHBG | SLC35G6 | SNORA48 | SOX15 | SPEM1 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TP53 | TRAPPC1 | unnamed | EIF4A1P2 | EIF5AL1 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:POLR2A | Endocytosis:ACAP1 | Huntington disease:POLR2A | Ferroptosis:SAT2 | Lysosome:CD68 | RNA transport:EIF4A1,FXR2 | Interferon Signaling:EIF4A1 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Transcription of the HIV genome:POLR2A | Asparagine N-linked glycosylation:MPDU1 | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | ISG15 antiviral mechanism:EIF4A1 | Antiviral mechanism by IFN-stimulated genes:EIF4A1 | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | endocrine system disease:SHBG | lymphatic system disease:TNFSF13 | intrahepatic cholestasis:SHBG | hepatitis:EIF4A1 | hepatitis C:EIF4A1 | hypotrichosis:TNFSF13 | cholestasis:SHBG | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | bile duct disease:SHBG | hair disease:TNFSF13 | biliary tract disease:SHBG | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | gestational diabetes:SHBG | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | male reproductive system disease:SHBG | male infertility:SHBG | hyperandrogenism:SHBG | polycystic ovary syndrome:SHBG | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:SAT2,TNFSF13 | reproductive system disease:SHBG | sex differentiation disease:SHBG | sporadic breast cancer:SHBG | pancreas disease:SHBG | interstitial lung disease:TNFSF12 | gonadal dysgenesis:SHBG | gonadal disease:SHBG | myopathy:SHBG,TNFSF12,TNFSF13 | muscle tissue disease:SHBG,TNFSF12,TNFSF13 | osteoporosis:SHBG | Sjogren's syndrome:TNFSF13 | bone resorption disease:SHBG | muscular disease:SHBG,TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | Alzheimer's disease:SHBG | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | tauopathy:SHBG | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | female reproductive organ cancer:SHBG | infertility:SHBG | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | RNA secondary structure unwinding:EIF4A1 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | response to tumor necrosis factor:TNFSF12,TNFSF13 | ammonium ion metabolic process:SAT2 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | B cell mediated immunity:TNFSF13 | translational initiation:EIF4A1 | positive regulation of adaptive immune response:TNFSF13 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1 | nucleocytoplasmic transport:EIF5A | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1 | positive regulation of reactive oxygen species metabolic process:EIF5A | stem cell proliferation:KCTD11 | positive regulation of cell cycle:SOX15 | regulation of lymphocyte mediated immunity:TNFSF13 | nuclear-transcribed mRNA poly(A) tail shortening:EIF4A1 | regulation of DNA metabolic process:TNFSF13 | negative regulation of neurogenesis:KCTD11 | negative regulation of translation:FXR2,POLR2A | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1 | synapse organization:CHRNB1 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:FXR2,POLR2A | negative regulation of nervous system development:KCTD11 | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | negative regulation of cell development:KCTD11 | aging:EIF5A | protein export from nucleus:EIF5A | regulation of stem cell proliferation:KCTD11 | mRNA catabolic process:EIF4A1,TNFSF13 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | smoothened signaling pathway:KCTD11 | somatic stem cell population maintenance:POLR2A | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | regulation of neural precursor cell proliferation:KCTD11 | nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay:EIF4A1 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of apoptotic signaling pathway:TNFSF12 | RNA catabolic process:EIF4A1,TNFSF13 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:CHRNB1 | transcription elongation from RNA polymerase II promoter:POLR2A | regulation of striated muscle tissue development:SOX15 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | DNA-templated transcription, termination:POLR2A | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | 0.0118506 | 0.0199301 | 0.257927979273824 | 0.0261016 | 0.0176658 | 0.854592249292861 | -0.0399573 | 0.0403441 | 0.492180545827942 | -0.0233245 | 0.0219227 | 0.541393874512511 | -0.0259342 | 0.0232929 | 0.575547972209599 | -0.0157952 | 0.0459185 | 0.136105793954084 | -0.0119727 | 0.0163584 | 0.33318822128519 | -0.015038 | 0.0183532 | 0.384344485134748 | -0.00418643 | 0.0322104 | 0.0473886717909804 | 0.022816 | 0.0114776 | 1.32952499641427 | 0.0106975 | 0.0141849 | 0.346055593254887 | 0.0382361 | 0.0186187 | 1.3978238504336 | -0.042067 | 0.0113915 | 3.65411482867407 | -0.06512 | 0.0118038 | 7.46210789923732 | -0.0157139 | 0.0197226 | 0.371000421575331 | -0.0298354 | 0.0109775 | 2.18239695355789 | -0.0394663 | 0.013323 | 2.51516652001851 | -0.0127462 | 0.0179222 | 0.321515309679131 | -0.0118881 | 0.00660567 | 1.14321191913178 | -0.00855133 | 0.00846444 | 0.505333463063769 | -0.0161991 | 0.0104382 | 0.918346705230338 | 0.0231452 | 0.0329039 | 0.317063802089458 | 0.022638 | 0.0405282 | 0.239163776790284 | 0.0213097 | 0.0564268 | 0.15131465405792 | |
17:7591511:C:CGGGG | 17 | 7591511 | 17p13.1 | CGGGG | C | 0.914 | 0 | TESTO MEN | 4291 | 7.45432926776887 | 0.0751241668608716 | 0.367241 | WRAP53 (0 kb, 5'utr/5 prime UTR/MODIFIER | intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | near gene/Upstream gene/MODIFIER); TP53 (0.66 kb, near gene/Upstream gene/MODIFIER); RP11-199F11.2 (1.8 kb, near gene/Upstream gene/MODIFIER); EFNB3 (17 kb); DNAH2 (29 kb); ATP1B2 (30 kb) | 0.325 Cognitive function | - | ASGR1 | AURKB | C17orf81 | CD68 | CHD3 | CTDNEP1 | CYB5D1 | DLG4 | DNAH2 | EFNB3 | EIF4A1 | EIF5A | GABARAP | LSMD1 | MPDU1 | NDEL1 | PER1 | RP11-186B7.4 | RPL26 | SAT2 | SNORA48 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | WRAP53 | ZBTB4 | Herpes simplex infection:TP53 | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Epstein-Barr virus infection:TP53 | Human T-cell leukemia virus 1 infection:TP53 | Thyroid hormone synthesis:ASGR1,ATP1B2 | Huntington disease:DLG4,DNAH2,TP53 | Kaposi sarcoma-associated herpesvirus infection:TP53 | Ferroptosis:TP53 | Cellular senescence:TP53 | Transcriptional misregulation in cancer:TP53 | Viral carcinogenesis:TP53 | Small cell lung cancer:TP53 | Human cytomegalovirus infection:TP53 | Lysosome:CD68 | Endocrine resistance:TP53 | Aldosterone synthesis and secretion:ATP1B2 | Measles:TP53 | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:TP53 | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | Pre-NOTCH Transcription and Translation:TP53 | Association of TriC/CCT with target proteins during biosynthesis:TP53,WRAP53 | EPHB-mediated forward signaling:EFNB3 | Pre-NOTCH Expression and Processing:TP53 | Transcriptional Regulation by TP53:TP53 | Neurexins and neuroligins:DLG4 | Asparagine N-linked glycosylation:ASGR1,MPDU1 | TP53 Regulates Metabolic Genes:TP53 | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Protein-protein interactions at synapses:DLG4 | Regulation of TP53 Activity through Phosphorylation:TP53 | EPH-Ephrin signaling:EFNB3 | Chaperonin-mediated protein folding:TP53,WRAP53 | Formation of Senescence-Associated Heterochromatin Foci (SAHF):TP53 | Protein folding:TP53,WRAP53 | Signaling by NOTCH:TP53 | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | endocrine system disease:TP53 | lymphatic system disease:TNFSF13,TP53 | intrahepatic cholestasis:TP53 | Graves' disease:TP53 | autoimmune disease of endocrine system:TP53 | hyperthyroidism:TP53 | hypersensitivity reaction type I disease:TP53 | hepatitis:TP53 | hepatitis C:TP53 | aplastic anemia:TP53 | hypotrichosis:TNFSF13 | duodenal ulcer:TP53 | cholestasis:TP53 | urinary system disease:TNFSF12,TNFSF13,TP53 | multiple myeloma:TNFSF13,TP53 | myeloma:TNFSF13,TP53 | bone marrow cancer:TNFSF13,TP53 | primary bacterial infectious disease:TP53 | bile duct disease:TP53 | hair disease:TNFSF13 | vitiligo:TP53 | biliary tract disease:TP53 | thyroid gland disease:TP53 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | hepatitis B:TP53 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | keratoconjunctivitis sicca:TP53 | keratoconjunctivitis:TP53 | bacterial infectious disease:TP53 | dry eye syndrome:TP53 | lacrimal apparatus disease:TP53 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | male reproductive system disease:TP53 | male infertility:TP53 | peptic ulcer disease:TP53 | integumentary system disease:TNFSF12,TNFSF13,TP53 | Human immunodeficiency virus infectious disease:TP53 | hematopoietic system disease:TNFSF13,TP53 | colon carcinoma:EFNB3,TNFSF13,TP53 | intestinal cancer:EFNB3,TNFSF13,TP53 | reproductive system disease:TP53 | germ cell and embryonal cancer:TP53 | sporadic breast cancer:TP53 | malignant glioma:ATP1B2,TP53 | mammary Paget's disease:TP53 | open-angle glaucoma:TP53 | varicose veins:TP53 | influenza:TP53 | astrocytoma:TP53 | interstitial lung disease:TNFSF12 | gastritis:TP53 | breast adenocarcinoma:TP53 | myopathy:TNFSF12,TNFSF13,TP53 | muscle tissue disease:TNFSF12,TNFSF13,TP53 | neuropathy:TP53 | tuberculosis:TP53 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13,TP53 | alopecia areata:TNFSF13 | chronic leukemia:TP53 | cell type benign neoplasm:TP53 | teratoma:TP53 | Alzheimer's disease:DLG4,TP53 | non-small cell lung carcinoma:EIF5A,TNFSF13,TP53 | colon cancer:EFNB3,TNFSF13,TP53 | tauopathy:DLG4,TP53 | cholangitis:TP53 | colorectal cancer:EFNB3,TNFSF13,TP53 | stomach disease:TP53 | large intestine cancer:EFNB3,TNFSF13,TP53 | gallbladder carcinoma:TP53 | esophagus squamous cell carcinoma:TP53 | gallbladder cancer:TP53 | infertility:TP53 | neurofibroma:TP53 | anemia:TP53 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12,TP53 | lung adenocarcinoma:EIF5A,TP53 | cardiomyopathy:TNFSF12,TP53 | keratoacanthoma:TP53 | primary immunodeficiency disease:TP53 | liver cirrhosis:TNFSF13,TP53 | gallbladder disease:TP53 | pleural cancer:TP53 | malignant pleural mesothelioma:TP53 | esophageal carcinoma:TP53 | mouth disease:TP53 | lung disease:TNFSF12,TP53 | chronic lymphocytic leukemia:TNFSF13,TP53 | female reproductive organ cancer:TP53 | ataxia telangiectasia:TP53 | vein disease:TP53 | dilated cardiomyopathy:TNFSF12,TP53 | adenoma:TP53 | acute myocardial infarction:TNFSF12,TP53 | gastric adenocarcinoma:TP53 | coronary artery disease:TNFSF12,TP53 | integumentary system cancer:TP53 | skin cancer:TP53 | T cell costimulation:EFNB3 | lymphocyte costimulation:EFNB3 | positive regulation of leukocyte cell-cell adhesion:EFNB3 | positive regulation of cell-cell adhesion:EFNB3 | positive regulation of cell activation:EFNB3,TNFSF13 | positive regulation of T cell activation:EFNB3 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of cell adhesion:EFNB3 | positive regulation of lymphocyte activation:EFNB3,TNFSF13 | positive regulation of leukocyte activation:EFNB3,TNFSF13 | regulation of leukocyte activation:EFNB3,TNFSF13 | regulation of lymphocyte activation:EFNB3,TNFSF13 | postsynaptic membrane organization:DLG4 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | regulation of cell-cell adhesion:EFNB3 | regulation of DNA biosynthetic process:TP53,WRAP53 | regulation of leukocyte cell-cell adhesion:EFNB3 | regulation of telomerase activity:TP53,WRAP53 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | DNA biosynthetic process:TP53,WRAP53 | regulation of T cell activation:EFNB3 | T cell activation:EFNB3 | locomotory exploration behavior:DLG4 | replicative senescence:TP53 | response to tumor necrosis factor:TNFSF12,TNFSF13 | leukocyte cell-cell adhesion:EFNB3 | regulation of immune effector process:TNFSF13 | telomere maintenance via telomerase:WRAP53 | RNA-dependent DNA biosynthetic process:WRAP53 | positive regulation of cell cycle process:TP53 | telomere maintenance via telomere lengthening:WRAP53 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | positive regulation of excitatory postsynaptic potential:DLG4 | B cell mediated immunity:TNFSF13 | exploration behavior:DLG4 | positive regulation of adaptive immune response:TNFSF13 | regulation of cell cycle G2/M phase transition:TP53 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:DLG4 | interaction with host:EFNB3 | nucleocytoplasmic transport:EIF5A,TP53 | protein localization to synapse:DLG4 | nuclear transport:EIF5A,TP53 | positive regulation of DNA metabolic process:TNFSF13,WRAP53 | chemical synaptic transmission, postsynaptic:DLG4 | modulation of excitatory postsynaptic potential:DLG4 | regulation of glutamate receptor signaling pathway:DLG4 | negative regulation of DNA biosynthetic process:TP53 | positive regulation of telomerase activity:WRAP53 | positive regulation of reactive oxygen species metabolic process:EIF5A,TP53 | protein stabilization:ATP1B2 | positive regulation of cell cycle:TP53 | negative regulation of growth:TP53 | peptidyl-tyrosine phosphorylation:TP53 | regulation of lymphocyte mediated immunity:TNFSF13 | peptidyl-tyrosine modification:TP53 | regulation of neurotransmitter receptor activity:DLG4 | regulation of DNA metabolic process:TNFSF13,TP53,WRAP53 | negative regulation of neurogenesis:EFNB3 | regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway:TP53 | cell cycle G2/M phase transition:TP53 | protein N-linked glycosylation via asparagine:ASGR1 | regulation of postsynaptic membrane potential:DLG4 | synapse organization:DLG4 | peptidyl-asparagine modification:ASGR1 | positive regulation of cellular amide metabolic process:EIF5A | neuromuscular process controlling balance:DLG4 | regulation of mitotic cell cycle phase transition:TP53 | negative regulation of nervous system development:EFNB3 | regulation of adaptive immune response:TNFSF13 | negative regulation of axonogenesis:EFNB3 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:ASGR1,DLG4 | regulation of lymphocyte apoptotic process:TP53 | mitochondrial outer membrane permeabilization:TP53 | protein localization to nucleoplasm:WRAP53 | regulation of protein stability:ATP1B2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | telomere maintenance:WRAP53 | negative regulation of cell development:EFNB3 | regulation of cell cycle phase transition:TP53 | aging:EIF5A,TP53 | negative regulation of cell growth:TP53 | protein export from nucleus:EIF5A,TP53 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress:TP53 | protein localization to nucleus:CTDNEP1,WRAP53 | positive regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | telomere organization:WRAP53 | mitochondrial outer membrane permeabilization involved in programmed cell death:TP53 | glycerolipid metabolic process:CTDNEP1 | positive regulation of mitochondrial membrane permeability:TP53 | positive regulation of DNA biosynthetic process:WRAP53 | regulation of mitochondrial membrane permeability involved in apoptotic process:TP53 | positive regulation of membrane permeability:TP53 | regulation of DNA-templated transcription in response to stress:TP53 | mRNA catabolic process:TNFSF13 | lymphocyte apoptotic process:TP53 | triglyceride metabolic process:CTDNEP1 | protein N-linked glycosylation:ASGR1 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | positive regulation of protein complex assembly:TP53 | locomotory behavior:DLG4,EFNB3 | cellular response to UV:TP53 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | negative regulation of neuron differentiation:EFNB3 | protein localization to chromosome:WRAP53 | nuclear export:EIF5A,TP53 | glutamate receptor signaling pathway:DLG4 | regulation of mitochondrial membrane permeability:TP53 | negative regulation of cell morphogenesis involved in differentiation:EFNB3 | execution phase of apoptosis:TP53 | regulation of leukocyte apoptotic process:TP53 | mitochondrial membrane organization:TP53 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | acylglycerol metabolic process:CTDNEP1 | potassium ion homeostasis:ATP1B2 | neutral lipid metabolic process:CTDNEP1 | positive regulation of leukocyte mediated immunity:TNFSF13 | DNA geometric change:TP53 | regulation of receptor internalization:DLG4 | cellular response to extracellular stimulus:ASGR1,TP53 | regulation of membrane permeability:TP53 | ephrin receptor signaling pathway:EFNB3 | regulation of fibroblast proliferation:TP53 | regulation of ion transmembrane transporter activity:ATP1B2,DLG4 | fibroblast proliferation:TP53 | regulation of apoptotic signaling pathway:TNFSF12,TP53 | regulation of transmembrane transporter activity:ATP1B2,DLG4 | RNA catabolic process:TNFSF13 | negative regulation of hydrolase activity:TP53 | regulation of endocytosis:DLG4 | neuromuscular process:DLG4 | regulation of membrane potential:ATP1B2,DLG4 | negative regulation of receptor-mediated endocytosis:DLG4 | autophagy:TP53 | process utilizing autophagic mechanism:TP53 | cell aging:TP53 | leukocyte apoptotic process:TP53 | regulation of transporter activity:ATP1B2,DLG4 | vocalization behavior:DLG4 | RNA localization to Cajal body:WRAP53 | telomerase RNA localization to Cajal body:WRAP53 | telomerase RNA localization:WRAP53 | RNA localization to nucleus:WRAP53 | regulation of canonical Wnt signaling pathway:CTDNEP1 | cellular response to light stimulus:TP53 | axonogenesis:EFNB3 | 0.00381504 | 0.0325702 | 0.0425047724992186 | 0.0211499 | 0.0296459 | 0.322656806149853 | -0.0246548 | 0.0634005 | 0.156536739372855 | -0.0301257 | 0.0358273 | 0.397370370907602 | -0.0196194 | 0.0390792 | 0.21061673929699 | -0.0472365 | 0.0714017 | 0.293736373834104 | 0.0388526 | 0.0267209 | 0.835367619934282 | 0.0266889 | 0.0307795 | 0.413366568053205 | 0.0614261 | 0.0500448 | 0.657435209691273 | 0.0117172 | 0.0193249 | 0.264162463579088 | 0.00482788 | 0.0241543 | 0.0749061421418301 | 0.0180455 | 0.0309547 | 0.251875570770743 | -0.0781964 | 0.0190379 | 4.39779562975847 | -0.110668 | 0.0200713 | 7.45432926776887 | -0.023399 | 0.0321097 | 0.331453815351436 | -0.0167603 | 0.0184607 | 0.438973789209112 | -0.0392005 | 0.0227488 | 1.07132307401198 | 0.0202153 | 0.0293672 | 0.308719538679266 | 0.00402102 | 0.011095 | 0.144456010908661 | -0.00107115 | 0.0143835 | 0.0265784039631467 | 0.0101127 | 0.0172944 | 0.252803450409147 | -0.0364524 | 0.0537913 | 0.302714847880884 | 0.0634079 | 0.06795 | 0.454801780132632 | -0.209589 | 0.0875145 | 1.77227265158883 | ||
rs9989479:7418109:A:G | 17 | 7418109 | 17p13.1 | G | A | 0.965 | 36 | TESTO ALL | 7643 | 7.44408612534746 | 0.963836320816433 | 0.0427826 | POLR2A (0.18 kb, near gene/Downstream gene/MODIFIER); ZBTB4 (31 kb); SLC35G6 (32 kb); TNFSF12 (34 kb); TNFSF12-TNFSF13 (34 kb); TNFSF13 (43 kb); SENP3 (47 kb); SENP3-EIF4A1 (48 kb) | NA | - | ALOX12 | ATP1B2 | AURKB | C17orf81 | CD68 | CHRNB1 | CTDNEP1 | EFNB3 | EIF4A1 | EIF5A | FGF11 | KCNAB3 | LSMD1 | MPDU1 | NLGN2 | PLSCR3 | POLR2A | RP11-186B7.4 | SENP3 | SENP3-EIF4A1 | SNORA48 | SOX15 | SPEM1 | TMEM102 | TMEM88 | TNFSF12 | TNFSF12-TNFSF13 | TNFSF13 | TRAPPC1 | ZBTB4 | Herpes simplex infection:POLR2A | Intestinal immune network for IgA production:TNFSF13 | Rheumatoid arthritis:TNFSF13 | Cell adhesion molecules (CAMs):NLGN2 | Epstein-Barr virus infection:POLR2A | Huntington disease:POLR2A | TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13 | TP53 Regulates Transcription of DNA Repair Genes:POLR2A | TNFR2 non-canonical NF-kB pathway:TNFSF12,TNFSF12-TNFSF13,TNFSF13 | MicroRNA (miRNA) biogenesis:POLR2A | Transcriptional regulation of pluripotent stem cells:POLR2A | Infectious disease:POLR2A | Influenza Infection:POLR2A | Transcriptional Regulation by TP53:POLR2A | HIV Transcription Elongation:POLR2A | Formation of HIV-1 elongation complex containing HIV-1 Tat:POLR2A | Tat-mediated elongation of the HIV-1 transcript:POLR2A | Neurexins and neuroligins:NLGN2 | Transcription of the HIV genome:POLR2A | Asparagine N-linked glycosylation:MPDU1,TRAPPC1 | Formation of HIV elongation complex in the absence of HIV Tat:POLR2A | RNA Polymerase II Pre-transcription Events:POLR2A | Formation of the Early Elongation Complex:POLR2A | Formation of the HIV-1 Early Elongation Complex:POLR2A | Regulation of mRNA stability by proteins that bind AU-rich elements:TNFSF13 | Pausing and recovery of Tat-mediated HIV elongation:POLR2A | Tat-mediated HIV elongation arrest and recovery:POLR2A | Protein-protein interactions at synapses:NLGN2 | Neutrophil degranulation:TRAPPC1 | RAB GEFs exchange GTP for GDP on RABs:TRAPPC1 | Formation of RNA Pol II elongation complex :POLR2A | RNA Polymerase II Transcription Elongation:POLR2A | HIV elongation arrest and recovery:POLR2A | Pausing and recovery of HIV elongation:POLR2A | Transcriptional regulation by small RNAs:POLR2A | Kawasaki disease:TNFSF13 | lymphadenitis:TNFSF13 | lymph node disease:TNFSF13 | lymphatic system disease:TNFSF13 | hypotrichosis:TNFSF13 | urinary system disease:TNFSF12,TNFSF13 | multiple myeloma:TNFSF13 | myeloma:TNFSF13 | bone marrow cancer:TNFSF13 | hair disease:TNFSF13 | proteinuria:TNFSF12 | kidney disease:TNFSF12,TNFSF13 | purpura:TNFSF13 | alopecia:TNFSF13 | collagen disease:TNFSF12,TNFSF13 | nephritis:TNFSF12,TNFSF13 | hemorrhagic disease:TNFSF13 | blood coagulation disease:TNFSF13 | rheumatic disease:TNFSF12,TNFSF13 | systemic scleroderma:TNFSF12,TNFSF13 | scleroderma:TNFSF12,TNFSF13 | integumentary system disease:TNFSF12,TNFSF13 | hematopoietic system disease:TNFSF13 | colon carcinoma:TNFSF13 | intestinal cancer:TNFSF13 | interstitial lung disease:TNFSF12 | myopathy:TNFSF12,TNFSF13 | muscle tissue disease:TNFSF12,TNFSF13 | Sjogren's syndrome:TNFSF13 | muscular disease:TNFSF12,TNFSF13 | alopecia areata:TNFSF13 | non-small cell lung carcinoma:EIF5A,TNFSF13 | colon cancer:TNFSF13 | colorectal cancer:TNFSF13 | large intestine cancer:TNFSF13 | myositis:TNFSF13 | lower respiratory tract disease:TNFSF12 | lung adenocarcinoma:EIF5A | cardiomyopathy:TNFSF12 | liver cirrhosis:TNFSF13 | lung disease:TNFSF12 | chronic lymphocytic leukemia:TNFSF13 | dilated cardiomyopathy:TNFSF12 | acute myocardial infarction:TNFSF12 | coronary artery disease:TNFSF12 | positive regulation of cell activation:SOX15,TNFSF13 | lymphocyte mediated immunity:TNFSF13 | tumor necrosis factor-mediated signaling pathway:TNFSF12,TNFSF13 | positive regulation of lymphocyte activation:TNFSF13 | positive regulation of leukocyte activation:TNFSF13 | regulation of leukocyte activation:TNFSF13 | regulation of lymphocyte activation:TNFSF13 | postsynaptic membrane organization:CHRNB1,NLGN2 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | cellular response to tumor necrosis factor:TNFSF12,TNFSF13 | locomotory exploration behavior:NLGN2 | response to tumor necrosis factor:TNFSF12,TNFSF13 | regulation of immune effector process:TNFSF13 | positive regulation of cell cycle process:SOX15 | adaptive immune response:TNFSF13 | immunoglobulin mediated immune response:TNFSF13 | positive regulation of excitatory postsynaptic potential:NLGN2 | B cell mediated immunity:TNFSF13 | exploration behavior:NLGN2 | positive regulation of adaptive immune response:TNFSF13 | regulation of neurotransmitter receptor activity:NLGN2 | positive regulation of translation:EIF5A | excitatory postsynaptic potential:CHRNB1,NLGN2 | nucleocytoplasmic transport:EIF5A | protein localization to synapse:NLGN2 | nuclear transport:EIF5A | positive regulation of DNA metabolic process:TNFSF13 | chemical synaptic transmission, postsynaptic:CHRNB1,NLGN2 | modulation of excitatory postsynaptic potential:NLGN2 | regulation of glutamate receptor signaling pathway:NLGN2 | positive regulation of reactive oxygen species metabolic process:EIF5A | positive regulation of cell cycle:SOX15 | regulation of lymphocyte mediated immunity:TNFSF13 | regulation of DNA metabolic process:TNFSF13 | negative regulation of translation:POLR2A | DNA-templated transcription, elongation:POLR2A | regulation of postsynaptic membrane potential:CHRNB1,NLGN2 | synapse organization:CHRNB1,NLGN2 | positive regulation of cellular amide metabolic process:EIF5A | negative regulation of cellular amide metabolic process:POLR2A | neuromuscular process controlling balance:NLGN2 | regulation of adaptive immune response:TNFSF13 | positive regulation of lymphocyte mediated immunity:TNFSF13 | receptor-mediated endocytosis:NLGN2 | postsynaptic membrane assembly:NLGN2 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | aging:EIF5A | membrane assembly:NLGN2 | protein export from nucleus:EIF5A | presynaptic membrane organization:NLGN2 | protein localization to nucleus:CTDNEP1 | glycerolipid metabolic process:CTDNEP1 | mRNA catabolic process:TNFSF13 | triglyceride metabolic process:CTDNEP1 | membrane biogenesis:NLGN2 | positive regulation of B cell mediated immunity:TNFSF13 | positive regulation of immunoglobulin mediated immune response:TNFSF13 | somatic stem cell population maintenance:POLR2A | locomotory behavior:NLGN2 | regulation of viral process:POLR2A | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains:TNFSF13 | nuclear export:EIF5A | postsynapse assembly:NLGN2 | glutamate receptor signaling pathway:NLGN2 | regulation of leukocyte mediated immunity:TNFSF13 | immunoglobulin production:TNFSF13 | acylglycerol metabolic process:CTDNEP1 | neuron cell-cell adhesion:NLGN2 | neutral lipid metabolic process:CTDNEP1 | positive regulation of leukocyte mediated immunity:TNFSF13 | regulation of synapse assembly:NLGN2 | regulation of symbiosis, encompassing mutualism through parasitism:POLR2A | regulation of ion transmembrane transporter activity:NLGN2 | regulation of apoptotic signaling pathway:TNFSF12 | regulation of transmembrane transporter activity:NLGN2 | RNA catabolic process:TNFSF13 | neuromuscular process:NLGN2 | regulation of G0 to G1 transition:SOX15 | regulation of membrane potential:CHRNB1,NLGN2 | presynapse assembly:NLGN2 | transcription elongation from RNA polymerase II promoter:POLR2A | synaptic vesicle recycling:NLGN2 | regulation of striated muscle tissue development:SOX15 | regulation of transporter activity:NLGN2 | G0 to G1 transition:SOX15 | positive regulation of viral process:POLR2A | regulation of muscle tissue development:SOX15 | regulation of canonical Wnt signaling pathway:CTDNEP1 | DNA-templated transcription, termination:POLR2A | regulation of gene silencing by miRNA:POLR2A | regulation of posttranscriptional gene silencing:POLR2A | regulation of gene silencing by RNA:POLR2A | 0.029008 | 0.047984 | 0.263162255632327 | 0.0214551 | 0.0442844 | 0.201956686564625 | 0.103229 | 0.0527472 | 1.29691764952094 | 0.0750574 | 0.0583396 | 0.702309506753444 | 0.139506 | 0.102857 | 0.75588870988744 | 0.0365163 | 0.0393818 | 0.451105938732763 | 0.0222205 | 0.0459819 | 0.201349354554731 | 0.0528119 | 0.0722122 | 0.332722668340382 | -0.0261426 | 0.0341182 | 0.353073082830201 | 0.125669 | 0.0429711 | 2.46218719909526 | 0.148523 | 0.0269573 | 7.44408612534746 | 0.149382 | 0.0284521 | 6.81855088482657 | 0.137723 | 0.0451144 | 2.64442780606973 | 0.0524125 | 0.0262194 | 1.34095230642323 | 0.0854887 | 0.0320403 | 2.11765650324144 | 0.00848387 | 0.0421322 | 0.0755062047678788 | 0.00714222 | 0.0156187 | 0.188783032497795 | 0.00511144 | 0.0204536 | 0.0954678381771703 | 0.00869969 | 0.0240614 | 0.144069761469442 | 0.0528745 | 0.0789569 | 0.298302522974151 | 0.0221044 | 0.101421 | 0.0822298982486436 | 0.112505 | 0.125654 | 0.430729115850472 | ||||||||
rs5895733:143959477:CAT:C | 8 | 143959477 | 8q24.3 | C | CAT | 0.846 | 0 | ANDRO ALL | 2070 | 7.38110611479282 | 0.655915700483092 | GML (0 kb, intron/Intron/MODIFIER); CYP11B1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); ZNHIT1P1 (19 kb); CYP11B2 (32 kb) | 0.522 Estrone levels // 0.498 Systolic blood pressure // 0.444 Diastolic blood pressure // 0.331 Mean arterial pressure // 0.319 Plasma androstenedione levels in resected early stage-receptor positive breast cancer | C8orf31 | C8orf55 | C8ORF55 | CTD-2292P10.4 | GML | JRK | LY6D | LY6E | LY6K | LYNX1 | LYPD2 | NAPRT1 | PSCA | RP11-273G15.2 | RP11-706C16.7 | RP13-582O9.5 | SLURP1 | THEM6 | unnamed | ZNF623 | Steroid hormone biosynthesis:CYP11B1,CYP11B2 | Cortisol synthesis and secretion:CYP11B1 | Post-translational modification: synthesis of GPI-anchored proteins:LY6D,LY6E,LYPD2 | Cytochrome P450 - arranged by substrate type:CYP11B1,CYP11B2 | Endogenous sterols:CYP11B1,CYP11B2 | Metabolism of steroid hormones:CYP11B1,CYP11B2 | Metabolic disorders of biological oxidation enzymes:CYP11B1,CYP11B2 | Phase I - Functionalization of compounds:CYP11B1,CYP11B2 | Diseases of metabolism:CYP11B1,CYP11B2 | Metabolism of steroids:CYP11B1,CYP11B2 | Biological oxidations:CYP11B1,CYP11B2 | endocrine system disease:CYP11B1,CYP11B2 | glucocorticoid-remediable aldosteronism:CYP11B1,CYP11B2 | hyperaldosteronism:CYP11B1,CYP11B2 | adrenal gland hyperfunction:CYP11B1,CYP11B2 | adrenal cortex disease:CYP11B1,CYP11B2 | adrenal gland disease:CYP11B1,CYP11B2 | hemorrhagic disease:CYP11B2 | blood coagulation disease:CYP11B2 | hyperandrogenism:CYP11B1 | polycystic ovary syndrome:CYP11B1 | hematopoietic system disease:CYP11B2 | sex differentiation disease:CYP11B1 | essential hypertension:CYP11B2 | gonadal disease:CYP11B1 | cell type benign neoplasm:CYP11B1,CYP11B2 | pulmonary edema:CYP11B2 | lower respiratory tract disease:CYP11B2 | myopathy:CYP11B2 | muscle tissue disease:CYP11B2 | adenoma:CYP11B1,CYP11B2 | cardiomyopathy:CYP11B2 | muscular disease:CYP11B2 | lung disease:CYP11B2 | C-terminal protein lipidation:LY6D,LY6E,LYPD2 | C-terminal protein amino acid modification:LY6D,LY6E,LYPD2 | C21-steroid hormone biosynthetic process:CYP11B1,CYP11B2 | protein lipidation:LY6D,LY6E,LYPD2 | lipoprotein biosynthetic process:LY6D,LY6E,LYPD2 | C21-steroid hormone metabolic process:CYP11B1,CYP11B2 | lipoprotein metabolic process:LY6D,LY6E,LYPD2 | hormone biosynthetic process:CYP11B1,CYP11B2 | mineralocorticoid biosynthetic process:CYP11B1,CYP11B2 | mineralocorticoid metabolic process:CYP11B1,CYP11B2 | response to potassium ion:CYP11B1,CYP11B2 | aldehyde biosynthetic process:CYP11B1,CYP11B2 | glucocorticoid biosynthetic process:CYP11B1,CYP11B2 | glucocorticoid metabolic process:CYP11B1,CYP11B2 | post-translational protein modification:LY6D,LY6E,LYPD2 | cellular hormone metabolic process:CYP11B1,CYP11B2 | ketone biosynthetic process:CYP11B1,CYP11B2 | sterol metabolic process:CYP11B1,CYP11B2 | steroid biosynthetic process:CYP11B1,CYP11B2 | hormone metabolic process:CYP11B1,CYP11B2 | cellular aldehyde metabolic process:CYP11B1,CYP11B2 | steroid metabolic process:CYP11B1,CYP11B2 | regulation of neurotransmitter receptor activity:LYNX1 | cellular response to metal ion:CYP11B1,CYP11B2 | regulation of blood pressure:CYP11B1,CYP11B2 | cellular response to inorganic substance:CYP11B1,CYP11B2 | regulation of hormone levels:CYP11B1,CYP11B2 | organic hydroxy compound metabolic process:CYP11B1,CYP11B2 | organic hydroxy compound biosynthetic process:CYP11B1,CYP11B2 | regulation of G1/S transition of mitotic cell cycle:GML | cellular ketone metabolic process:CYP11B1,CYP11B2 | regulation of cell cycle G1/S phase transition:GML | response to metal ion:CYP11B1,CYP11B2 | G1/S transition of mitotic cell cycle:GML | positive regulation of cell cycle process:GML | cell cycle G1/S phase transition:GML | potassium ion homeostasis:CYP11B2 | positive regulation of cell cycle:GML | -0.0165915 | 0.0188653 | 0.421077845975903 | 0.0150825 | 0.0170332 | 0.424745168004851 | -0.0399719 | 0.0372668 | 0.547515877874784 | -0.032301 | 0.0207471 | 0.922090926773041 | -0.0245132 | 0.0224477 | 0.560632564000853 | -0.0447192 | 0.041961 | 0.542257341933799 | -0.0846384 | 0.0153757 | 7.38110611479282 | -0.0660831 | 0.0175999 | 3.74263826372474 | -0.117467 | 0.0291232 | 4.21515527934065 | -0.0123327 | 0.0113625 | 0.556345932387095 | -0.00135158 | 0.0181798 | 0.0265322361151812 | -0.0397388 | 0.0111689 | 3.42745365982439 | -0.0159198 | 0.0118478 | 0.747030525776429 | -0.0736223 | 0.0188187 | 4.03875740679219 | -0.0190427 | 0.0108892 | 1.09511898922089 | -0.0114265 | 0.0134152 | 0.404120357427449 | 0.00143361 | 0.00651144 | 0.0831561511171874 | -0.00563804 | 0.00843626 | 0.297625477367593 | 0.0105215 | 0.0101508 | 0.522933759399013 | 0.0474997 | 0.0310694 | 0.89802278348091 | 0.00420185 | 0.0390025 | 0.0389473818973198 | 0.124764 | 0.0512047 | 1.82152954548062 | |||||||||
X:7061182:C:CT | 23 | 7061182 | Xp22.31 | CT | C | 0.985 | 0 | DHEAS WOMEN | 3353 | 7.30810993426542 | 0.616185058156875 | 1.00809 | HDHD1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); MIR4767 (4.7 kb, near gene/Upstream gene/MODIFIER); STS (76 kb) | NA | Steroid hormone biosynthesis:STS | Gamma carboxylation, hypusine formation and arylsulfatase activation:STS | polycystic ovary syndrome:STS | reproductive system disease:STS | neuropathy:STS | cell type benign neoplasm:STS | astrocytoma:STS | brain cancer:STS | specific developmental disorder:STS | endocrine organ benign neoplasm:STS | female reproductive organ cancer:STS | adenoma:STS | glioblastoma multiforme:STS | steroid catabolic process:STS | steroid metabolic process:STS | post-translational protein modification:STS | -0.0313718 | 0.0270134 | 0.609706215358433 | -0.01635994 | 0.0220716 | 0.338481674728673 | -0.11673 | 0.0693649 | 1.03429324901276 | -0.0261462 | 0.0297164 | 0.42131495662131 | -0.0131117 | 0.029096 | 0.18553664282379 | -0.0883462 | 0.0779756 | 0.589055827241282 | -0.0769634 | 0.022111 | 3.29213102992007 | -0.0895806 | 0.022788 | 4.05129760103381 | -0.039247 | 0.054735 | 0.324599310507705 | 0.0903748 | 0.0167863 | 7.13721707139292 | 0.0501323 | 0.01843 | 2.1853935269343 | 0.181824 | 0.0333364 | 7.30810993426542 | 0.00121752 | 0.0164045 | 0.0264860731745856 | -0.00672253 | 0.0153385 | 0.179677007627999 | 0.0287434 | 0.0158456 | 1.15687503003852 | 0.0372387 | 0.0174141 | 1.48835322690797 | 0.0128585 | 0.0320793 | 0.162069563305516 | -0.0150871 | 0.018705 | 0.376847919721969 | -0.0598866 | 0.0446122 | 0.745630801080276 | -0.0465828 | 0.0505604 | 0.447272178931714 | -0.1031146 | 0.0961946 | 0.546485965691725 | ||||||||||||
References of known loci | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[2] Bolton et al. (2014) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[3] Chen et al. (2013) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[4] Eriksson et al. (2018) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[5] Jin et al. (2012) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[7] Ohlsson et al. (2011) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[8] Prins et al. (2017) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[9] Ruth et al. (2016) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[10] Zhai et al. (2011) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
[11] Dudenkov et al. (2017) |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
Supplemental Table 3: Look-up of cis and trans eQTLs. The table is restricted to the 22 lead SNPs, for which cis or trans eQTLs were found. Chromosomal positions are as reported in the original eQTL study. NA: Information not available | |||||||||||||||||||||||
SNP | chromosome of SNP | position of SNP | r2 SNP & eQTL-SNP | distance SNP & GWAS-SNP | reference LD calculation | eQTL-SNP | eQTL-gene | eQTL-gene probe ID | cis/trans | eQTL tissue | eQTL p-value or q-value | eQTL statistic type | chromosome of eQTL-SNP | position of eQTL-SNP | choromosome of eQTL-gene | transcription start position eQTL-gene | transcription end position eQTL-gene | distance eQTL-SNP eQTL-gene | PMID / doi / Reference | ||||
7:99025328:C:T | 7 | 99025328 | 0.306705 | 314721 | ref1: TG phase3 v5 | rs12538820 | - | 40317 | cis | blood | 3.11547E-28 | pval | 7 | 99340049 | 7 | 99806651 | 99806652 | 466602 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.741559 | 265816 | ref1: TG phase3 v5 | rs118168183 | - | 40317 | cis | blood | 3.34844E-6 | pval | 7 | 99291144 | 7 | 99806651 | 99806652 | 515507 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | AP4M1 | ILMN_1779512 | cis | PBMC and Whole Blood | 6.31856797397087E-10 | pval | 7 | 98965615 | 7 | 99699130 | 99704802 | 733515 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | AP4M1 | ILMN_1779512 | cis | PBMC and Whole Blood | 0.00129865318547675 | pval | 7 | 99332948 | 7 | 99699130 | 99704802 | 366182 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | AP4M1 | ILMN_1779512 | cis | PBMC | 1.11568354646807E-6 | pval | 7 | 98965615 | 7 | 99699130 | 99704802 | 733515 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | AP4M1 | ILMN_1779512 | cis | PBMC | 0.00338422506014749 | pval | 7 | 99332948 | 7 | 99699130 | 99704802 | 366182 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | AP4M1 | ILMN_1779512 | cis | Whole Blood | 3.75818543271121E-5 | pval | 7 | 98965615 | 7 | 99699130 | 99704802 | 733515 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | AP4M1 | 37052 | cis | blood | 1.17717E-8 | pval | 7 | 98965615 | 7 | 99704574 | 99704575 | 738959 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.336434 | 494667 | ref1: TG phase3 v5 | rs11761383 | AP4M1 | 37052 | cis | blood | 3.02312E-7 | pval | 7 | 99519995 | 7 | 99704574 | 99704575 | 184579 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.329462 | 7071 | ref1: TG phase3 v5 | rs11973173 | ARPC1A | NA | cis | Thyroid | 2.06981E-9 | pval | 7 | 99032399 | 7 | 98923521 | 98963880 | 68519 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | ARPC1A | NA | cis | Thyroid | 1.07886E-6 | pval | 7 | 99118320 | 7 | 98923521 | 98963880 | 154440 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | 7:99025510 | ARPC1A | 3014714 | cis | Whole_Blood | 5.65457540687621E-6 | pval | 7 | 99025510 | 7 | 98971875 | 98992402 | 33108 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | 7:99118320 | ARPC1A | 3014714 | cis | Whole_Blood | 1.59477713364217E-5 | pval | 7 | 99118320 | 7 | 98971875 | 98992402 | 125918 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.312176 | 137359 | ref1: TG phase3 v5 | rs10265385 | ARPC1A | 27782 | cis | blood | 5.93196E-6 | pval | 7 | 99162687 | 7 | 98963576 | 98963577 | 199110 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.312176 | 171850 | ref1: TG phase3 v5 | rs10240199 | ARPC1A | 27782 | cis | blood | 6.31974E-6 | pval | 7 | 99197178 | 7 | 98963576 | 98963577 | 233601 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | rs28419687 | ARPC1B | ILMN_1804530 | cis | PBMC and Whole Blood | 1.01643886576673E-32 | pval | 7 | 99025510 | 7 | 98972329 | 98992402 | 33108 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | ARPC1B | ILMN_1804530 | cis | PBMC and Whole Blood | 4.71923772735927E-4 | pval | 7 | 99130834 | 7 | 98972329 | 98992402 | 138432 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | rs28419687 | ARPC1B | ILMN_1804530 | cis | PBMC | 1.9000492211475E-22 | pval | 7 | 99025510 | 7 | 98972329 | 98992402 | 33108 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | ARPC1B | ILMN_1804530 | cis | PBMC | 4.40656422610024E-4 | pval | 7 | 99130834 | 7 | 98972329 | 98992402 | 138432 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.329462 | 7071 | ref1: TG phase3 v5 | rs11973173 | ARPC1B | NA | cis | Thyroid | 3.1069E-21 | pval | 7 | 99032399 | 7 | 98971872 | 98992424 | 39975 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | ARPC1B | NA | cis | Thyroid | 1.69048E-11 | pval | 7 | 99141373 | 7 | 98971872 | 98992424 | 148949 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 138623 | ref1: TG phase3 v5 | rs75293196 | ARPC1B | ILMN_1804530 | cis | Whole Blood | 2.18139325332341E-12 | pval | 7 | 99163951 | 7 | 98972329 | 98992402 | 171549 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | ARPC1B | ILMN_1804530 | cis | Whole Blood | 0.00208459177764884 | pval | 7 | 99141373 | 7 | 98972329 | 98992402 | 148971 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | 7:99025510 | ARPC1B | 3014714 | cis | Whole_Blood | 5.65457540687621E-6 | pval | 7 | 99025510 | 7 | 98971875 | 98992402 | 33108 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | 7:99118320 | ARPC1B | 3014714 | cis | Whole_Blood | 1.59477713364217E-5 | pval | 7 | 99118320 | 7 | 98971875 | 98992402 | 125918 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | rs28419687 | ARPC1B | 2219 | cis | blood | 4.75917E-23 | pval | 7 | 99025510 | 7 | 98988833 | 98988834 | 36676 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | ARPC1B | 2219 | cis | blood | 6.79265E-7 | pval | 7 | 99141373 | 7 | 98988833 | 98988834 | 152539 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | ATP5J2 | NA | cis | Artery_Tibial | 8.17151E-5 | pval | 7 | 98965615 | 7 | 99046098 | 99063954 | 80483 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.329462 | 34622 | ref1: TG phase3 v5 | rs28627543 | ATP5J2 | NA | cis | Cells_Transformed_fibroblasts | 1.50177E-5 | pval | 7 | 99059950 | 7 | 99046098 | 99063954 | 0 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 76175 | ref1: TG phase3 v5 | rs66509940 | ATP5J2 | NA | cis | Cells_Transformed_fibroblasts | 8.26313E-5 | pval | 7 | 99101503 | 7 | 99046098 | 99063954 | 37549 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 182 | ref1: TG phase3 v5 | rs28419687 | ATP5J2 | ILMN_2310621 | cis | PBMC and Whole Blood | 1.52673995881937E-4 | pval | 7 | 99025510 | 7 | 99055785 | 99063808 | 30275 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | ATP5J2 | ILMN_2310621 | cis | PBMC and Whole Blood | 0.00113548698323265 | pval | 7 | 99141373 | 7 | 99055785 | 99063808 | 77565 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 81346 | ref1: TG phase3 v5 | rs9656060 | ATP5J2 | ILMN_2310621 | cis | PBMC | 1.25456064387445E-4 | pval | 7 | 99106674 | 7 | 99055785 | 99063808 | 42866 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | ATP5J2 | ILMN_2310621 | cis | PBMC | 2.36136879696212E-4 | pval | 7 | 99141373 | 7 | 99055785 | 99063808 | 77565 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | ATP5J2 | 37356 | cis | blood | 7.18275E-6 | pval | 7 | 98965615 | 7 | 99055890 | 99055891 | 90275 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 76175 | ref1: TG phase3 v5 | rs66509940 | BUD31 | ILMN_1710697 | cis | PBMC and Whole Blood | 2.11368292588021E-4 | pval | 7 | 99101503 | 7 | 99006601 | 99017238 | 84265 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | BUD31 | ILMN_1710697 | cis | PBMC and Whole Blood | 7.50645032117299E-4 | pval | 7 | 99118320 | 7 | 99006601 | 99017238 | 101082 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 692 | ref1: TG phase3 v5 | rs190256229 | BUD31 | ILMN_1710697 | cis | Whole Blood | 0.00153379699276312 | pval | 7 | 99024636 | 7 | 99006601 | 99017238 | 7398 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 28488 | ref1: TG phase3 v5 | rs12535424 | BUD31 | ILMN_1710697 | cis | Whole Blood | 0.0026721136968945 | pval | 7 | 99053816 | 7 | 99006601 | 99017238 | 36578 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 170745 | ref1: TG phase3 v5 | 7:99196073 | BUD31 | 3014742 | cis | Whole_Blood | 1.44410908441612E-14 | pval | 7 | 99196073 | 7 | 99006285 | 99017235 | 178838 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | 7:99118320 | BUD31 | 3014742 | cis | Whole_Blood | 8.39653301579873E-14 | pval | 7 | 99118320 | 7 | 99006285 | 99017235 | 101085 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 90349 | ref1: TG phase3 v5 | rs12533251 | BUD31 | 4490706 | cis | blood | 0.00347345139792154 | pval | 7 | 99115677 | 7 | 99006591 | 99017239 | 98438 | 24013639 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 170745 | ref1: TG phase3 v5 | rs10273424 | BUD31 | 4490706 | cis | blood | 0.00347568274925589 | pval | 7 | 99196073 | 7 | 99006591 | 99017239 | 178834 | 24013639 | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | BUD31 | 17940 | cis | blood | 1.37358E-6 | pval | 7 | 98965615 | 7 | 99015162 | 99015163 | 49547 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 81346 | ref1: TG phase3 v5 | rs9656060 | CNPY4 | NA | cis | Adipose_Subcutaneous | 1.35708E-5 | pval | 7 | 99106674 | 7 | 99717236 | 99723134 | 610562 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | CNPY4 | NA | cis | Adipose_Subcutaneous | 3.51273E-5 | pval | 7 | 99118320 | 7 | 99717236 | 99723134 | 598916 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.306705 | 314721 | ref1: TG phase3 v5 | rs12538820 | CNPY4 | NA | cis | Adipose_Visceral_Omentum | 6.49838E-6 | pval | 7 | 99340049 | 7 | 99717236 | 99723134 | 377187 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 28488 | ref1: TG phase3 v5 | rs12535424 | CNPY4 | NA | cis | Adipose_Visceral_Omentum | 5.59958E-5 | pval | 7 | 99053816 | 7 | 99717236 | 99723134 | 663420 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 28488 | ref1: TG phase3 v5 | rs12535424 | CNPY4 | NA | cis | Breast_Mammary_Tissue | 3.40267E-5 | pval | 7 | 99053816 | 7 | 99717236 | 99723134 | 663420 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 81346 | ref1: TG phase3 v5 | rs9656060 | CNPY4 | NA | cis | Esophagus_Muscularis | 1.16456E-5 | pval | 7 | 99106674 | 7 | 99717236 | 99723134 | 610562 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.341977 | 90349 | ref1: TG phase3 v5 | rs12533251 | CNPY4 | NA | cis | Esophagus_Muscularis | 1.88564E-5 | pval | 7 | 99115677 | 7 | 99717236 | 99723134 | 601559 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 304 | ref1: TG phase3 v5 | rs11982726 | CNPY4 | ILMN_2252408 | cis | PBMC and Whole Blood | 1.33300139421609E-45 | pval | 7 | 99025632 | 7 | 99717265 | 99723126 | 691633 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | CNPY4 | ILMN_2252408 | cis | PBMC and Whole Blood | 3.12129773639807E-6 | pval | 7 | 99332948 | 7 | 99717265 | 99723126 | 384317 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 304 | ref1: TG phase3 v5 | rs11982726 | CNPY4 | ILMN_2252408 | cis | PBMC | 6.38510158074329E-31 | pval | 7 | 99025632 | 7 | 99717265 | 99723126 | 691633 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | CNPY4 | ILMN_2252408 | cis | PBMC | 3.72634370477251E-4 | pval | 7 | 99332948 | 7 | 99717265 | 99723126 | 384317 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 304 | ref1: TG phase3 v5 | rs11982726 | CNPY4 | ILMN_2252408 | cis | Whole Blood | 3.2306131300217E-15 | pval | 7 | 99025632 | 7 | 99717265 | 99723126 | 691633 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | CNPY4 | ILMN_2252408 | cis | Whole Blood | 0.00270158452599696 | pval | 7 | 99332948 | 7 | 99717265 | 99723126 | 384317 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.33252 | 304 | ref1: TG phase3 v5 | 7:99025632 | CNPY4 | 3015276 | cis | Whole_Blood | 4.21987901687157E-6 | pval | 7 | 99025632 | 7 | 99717265 | 99723126 | 691633 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | 7:99118320 | CNPY4 | 3015276 | cis | Whole_Blood | 2.66747280212458E-5 | pval | 7 | 99118320 | 7 | 99717265 | 99723126 | 598945 | 28122634 | ||||
7:99025328:C:T | 7 | 99025328 | 0.306705 | 314721 | ref1: TG phase3 v5 | rs12538820 | CNPY4 | 41565 | cis | blood | 1.93923E-28 | pval | 7 | 99340049 | 7 | 99722964 | 99722965 | 382915 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | CNPY4 | 41565 | cis | blood | 5.09195E-25 | pval | 7 | 99118320 | 7 | 99722964 | 99722965 | 604644 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 9883 | ref1: TG phase3 v5 | rs6955891 | COPS6 | ILMN_1764431 | cis | PBMC and Whole Blood | 8.3942919532418E-5 | pval | 7 | 99035211 | 7 | 99686583 | 99689820 | 651372 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | COPS6 | ILMN_1764431 | cis | PBMC and Whole Blood | 6.54334817793161E-4 | pval | 7 | 99332948 | 7 | 99686583 | 99689820 | 353635 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 21289 | ref1: TG phase3 v5 | rs45618033 | COPS6 | ILMN_1764431 | cis | PBMC | 7.70545787814584E-4 | pval | 7 | 99046617 | 7 | 99686583 | 99689820 | 639966 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | COPS6 | ILMN_1764431 | cis | PBMC | 0.00150806949934639 | pval | 7 | 99130834 | 7 | 99686583 | 99689820 | 555749 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | COPS6 | ILMN_1764431 | cis | Whole Blood | 0.00142942044889265 | pval | 7 | 98965615 | 7 | 99686583 | 99689820 | 720968 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 141216 | ref1: TG phase3 v5 | rs36104094 | CPSF4 | NA | cis | Cells_Transformed_fibroblasts | 3.97839E-8 | pval | 7 | 99166544 | 7 | 99036545 | 99054994 | 111550 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | CPSF4 | NA | cis | Cells_Transformed_fibroblasts | 4.86728E-6 | pval | 7 | 99141373 | 7 | 99036545 | 99054994 | 86379 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | CPSF4 | ILMN_1660426 | cis | PBMC and Whole Blood | 3.02698786958133E-10 | pval | 7 | 98965615 | 7 | 99036563 | 99054994 | 70948 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | CPSF4 | ILMN_1660426 | cis | PBMC | 6.44939151689062E-10 | pval | 7 | 98965615 | 7 | 99036563 | 99054994 | 70948 | LIFE Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.329462 | 7071 | ref1: TG phase3 v5 | rs11973173 | CPSF4 | ILMN_1660426 | cis | Whole Blood | 7.33312024213454E-4 | pval | 7 | 99032399 | 7 | 99036563 | 99054994 | 4164 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | CPSF4 | ILMN_1660426 | cis | Whole Blood | 0.00124779601846369 | pval | 7 | 99141373 | 7 | 99036563 | 99054994 | 86379 | LIFE Adult (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 159450 | ref1: TG phase3 v5 | rs7809615 | CPSF4 | 5560010 | cis | blood | 3.69587599909881E-8 | pval | 7 | 99184778 | 7 | 99036562 | 99054996 | 129782 | 24013639 | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | CPSF4 | 5560010 | cis | blood | 6.88294059679755E-4 | pval | 7 | 99141373 | 7 | 99036562 | 99054996 | 86377 | 24013639 | ||||
7:99025328:C:T | 7 | 99025328 | 0.312176 | 137359 | ref1: TG phase3 v5 | rs10265385 | CPSF4 | 45501 | cis | blood | 1.25729E-13 | pval | 7 | 99162687 | 7 | 99054924 | 99054925 | 107762 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | CPSF4 | 45501 | cis | blood | 5.18871E-7 | pval | 7 | 99118320 | 7 | 99054924 | 99054925 | 63395 | https://doi.org/10.1101/447367 | ||||
7:99025328:C:T | 7 | 99025328 | 0.306705 | 314721 | ref1: TG phase3 v5 | rs12538820 | CYP3A5 | NA | cis | Adipose_Subcutaneous | 3.64234E-5 | pval | 7 | 99340049 | 7 | 99245817 | 99277621 | 62428 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 28488 | ref1: TG phase3 v5 | rs12535424 | CYP3A5 | NA | cis | Adipose_Subcutaneous | 3.92538E-5 | pval | 7 | 99053816 | 7 | 99245817 | 99277621 | 192001 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 9883 | ref1: TG phase3 v5 | rs6955891 | CYP3A5 | NA | cis | Colon_Sigmoid | 3.36861E-5 | pval | 7 | 99035211 | 7 | 99245817 | 99277621 | 210606 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 692 | ref1: TG phase3 v5 | rs190256229 | CYP3A5 | NA | cis | Colon_Sigmoid | 3.92181E-5 | pval | 7 | 99024636 | 7 | 99245817 | 99277621 | 221181 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.388583 | 28488 | ref1: TG phase3 v5 | rs12535424 | CYP3A5 | NA | cis | Lung | 3.46338E-8 | pval | 7 | 99053816 | 7 | 99245817 | 99277621 | 192001 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | CYP3A5 | NA | cis | Lung | 2.62348E-6 | pval | 7 | 99118320 | 7 | 99245817 | 99277621 | 127497 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | CYP3A7 | NA | cis | Adrenal_Gland | 8.58197E-11 | pval | 7 | 99332948 | 7 | 99302667 | 99332719 | 229 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.306705 | 314721 | ref1: TG phase3 v5 | rs12538820 | CYP3A7 | NA | cis | Esophagus_Muscularis | 5.98021E-5 | pval | 7 | 99340049 | 7 | 99302667 | 99332719 | 7330 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.318532 | 59713 | ref1: TG phase3 v5 | rs143524414 | GAL3ST4 | ILMN_1693452 | cis | PBMC and Whole Blood | 2.26359981548317E-4 | pval | 7 | 98965615 | 7 | 99756866 | 99766373 | 791251 | LIFE Adult&Heart (in preparation**) | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 9883 | ref1: TG phase3 v5 | rs6955891 | GS1-259H13.2 | NA | cis | Adipose_Subcutaneous | 1.10089E-10 | pval | 7 | 99035211 | 7 | 99195689 | 99208439 | 160478 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | GS1-259H13.2 | NA | cis | Adipose_Subcutaneous | 6.61445E-10 | pval | 7 | 99118320 | 7 | 99195689 | 99208439 | 77369 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 141216 | ref1: TG phase3 v5 | rs36104094 | GS1-259H13.2 | NA | cis | Adipose_Visceral_Omentum | 2.42264E-13 | pval | 7 | 99166544 | 7 | 99195689 | 99208439 | 29145 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | GS1-259H13.2 | NA | cis | Adipose_Visceral_Omentum | 8.17253E-13 | pval | 7 | 99118320 | 7 | 99195689 | 99208439 | 77369 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.312176 | 171850 | ref1: TG phase3 v5 | rs10240199 | GS1-259H13.2 | NA | cis | Adrenal_Gland | 3.69378E-8 | pval | 7 | 99197178 | 7 | 99195689 | 99208439 | 0 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | GS1-259H13.2 | NA | cis | Adrenal_Gland | 3.13397E-7 | pval | 7 | 99118320 | 7 | 99195689 | 99208439 | 77369 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 45556 | ref1: TG phase3 v5 | rs10808111 | GS1-259H13.2 | NA | cis | Artery_Aorta | 1.36923E-8 | pval | 7 | 99070884 | 7 | 99195689 | 99208439 | 124805 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | GS1-259H13.2 | NA | cis | Artery_Aorta | 5.05705E-5 | pval | 7 | 99141373 | 7 | 99195689 | 99208439 | 54316 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.384652 | 9883 | ref1: TG phase3 v5 | rs6955891 | GS1-259H13.2 | NA | cis | Artery_Tibial | 3.57951E-9 | pval | 7 | 99035211 | 7 | 99195689 | 99208439 | 160478 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400943 | 92992 | ref1: TG phase3 v5 | rs10226310 | GS1-259H13.2 | NA | cis | Artery_Tibial | 7.24238E-8 | pval | 7 | 99118320 | 7 | 99195689 | 99208439 | 77369 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.400788 | 75952 | ref1: TG phase3 v5 | rs10215765 | GS1-259H13.2 | NA | cis | Brain_Cerebellum | 2.83916E-5 | pval | 7 | 99101280 | 7 | 99195689 | 99208439 | 94409 | 29022597 | ||||
7:99025328:C:T | 7 | 99025328 | 0.349954 | 166693 | ref1: TG phase3 v5 | rs35384085 | GS1-259H13.2 | NA | cis | Brain_Frontal_Cortex_BA9 | 5.5654E-6 | pval | 7 | 99192021 | 7 | 99195689 | 99208439 | 3668 | 29022597 |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
Supplemental Table 4: GWAS lookup for genome-wide significant SNPs. The table is restricted to the 22 lead SNPs, for which GWAS hits in at least LD r²>0.3 were found. | |||||||||||||
SNP | chromosome of SNP | position of SNP | r2 SNP & GWAS-SNP | distance SNP & GWAS-SNP | reference LD calculation | GWAS-SNP | GWAS-phenotype | GWAs-p-value | GWAS-p-value-details | GWAS reported genes | GWAS first author | GWAS date | GWAS PMID |
rs145827824:32103749:C:G | 6 | 32103749 | 0.489013 | 236035 | ref1: TG phase3 v5 | rs9501618 | Blood protein levels | 9.0E-26 | (Complement C4, C4A.C4B.4481.34.2) | NR | Sun BB | 2018-06-06T0:0:0+0000 | 29875488 |
rs145827824:32103749:C:G | 6 | 32103749 | 0.422257 | 774720 | ref1: TG phase3 v5 | rs114029601 | Blood protein levels | 1.0E-175 | (alpha-2-macroglobulin receptor-associated protein, LRPAP1.3640.14.3) | NR | Sun BB | 2018-06-06T0:0:0+0000 | 29875488 |
rs145827824:32103749:C:G | 6 | 32103749 | 0.422257 | 774720 | ref1: TG phase3 v5 | rs114029601 | Blood protein levels | 1.0E-132 | (alpha-2-macroglobulin receptor-associated protein, LRPAP1.8829.4.3) | NR | Sun BB | 2018-06-06T0:0:0+0000 | 29875488 |
rs145827824:32103749:C:G | 6 | 32103749 | 0.422257 | 729764 | ref1: TG phase3 v5 | rs116795853 | Blood protein levels | 1.0E-18 | (DnaJ homolog subfamily B member 11, DNAJB11.7110.2.3) | MICA | Sun BB | 2018-06-06T0:0:0+0000 | 29875488 |
rs145827824:32103749:C:G | 6 | 32103749 | 0.329078 | 173398 | ref1: TG phase3 v5 | rs2734331 | Blood metabolite levels | 7.0E-13 | (X-11470) | SKIV2L | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs145827824:32103749:C:G | 6 | 32103749 | 0.309826 | 266838 | ref1: TG phase3 v5 | rs9461741 | Marginal zone lymphoma | 4.0E-15 | BTNL2 | Vijai J | 2015-01-08T0:0:0+0000 | 25569183 | |
rs145827824:32103749:C:G | 6 | 32103749 | 0.302391 | 236496 | ref2: TG phase1 v3 | rs9267663 | Economic and political preferences (environmentalism) | 6.0E-6 | EHMT2 | Benjamin DJ | 2012-05-07T0:0:0+0000 | 22566634 | |
rs145827824:32103749:C:G | 6 | 32103749 | 0.302391 | 232893 | ref2: TG phase1 v3 | rs9267665 | Hepatitis B vaccine response | 1.0E-17 | HLA | Png E | 2011-07-15T0:0:0+0000 | 21764829 | |
7:99025328:C:T | 7 | 99025328 | 0.888 | 307620 | ref1: TG phase3 v5 | rs45446698 | Blood protein levels | 5.0E-74 | (DNA repair protein RAD51 homolog 4, RAD51L3.12554.10.3) | CYP3A7 | Sun BB | 2018-06-06T0:0:0+0000 | 29875488 |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Sex hormone levels | 6.0E-14 | (Progesterone) | ZKSCAN5, CYP3A4, CYP3A7 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Sex hormone levels | 2.0E-14 | (DHEAS) | ZKSCAN5, CYP3A4, CYP3A7 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Sex hormone levels | 2.0E-7 | (Testosterone) | ZKSCAN5, CYP3A4, CYP3A7 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Total body bone mineral density (age over 60) | 1.0E-9 | NR | Medina-Gomez C | 2018-01-04T0:0:0+0000 | 29304378 | |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Total body bone mineral density | 1.0E-8 | ZKSCAN5 | Medina-Gomez C | 2018-01-04T0:0:0+0000 | 29304378 | |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Femoral neck bone mineral density | 8.0E-6 | ZKSCAN5 | Pei YF | 2018-02-27T0:0:0+0000 | 29499414 | |
7:99025328:C:T | 7 | 99025328 | 0.8546 | 105506 | ref1: TG phase3 v5 | rs34670419 | Lumbar spine bone mineral density | 1.0E-8 | ZKSCAN5 | Pei YF | 2018-02-27T0:0:0+0000 | 29499414 | |
7:99025328:C:T | 7 | 99025328 | 0.836967 | 49710 | ref1: TG phase3 v5 | rs148982377 | Sex hormone levels | 2.0E-14 | (DHEAS) | ZNF789 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.836967 | 49710 | ref1: TG phase3 v5 | rs148982377 | Sex hormone levels | 3.0E-13 | (Progesterone) | ZNF789 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.836967 | 49710 | ref1: TG phase3 v5 | rs148982377 | Sex hormone levels | 5.0E-7 | (Testosterone) | ZNF789 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | Blood metabolite levels | 9.0E-113 | (androsterone sulfate) | CYP3A5 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
7:99025328:C:T | 7 | 99025328 | 0.471891 | 116045 | ref1: TG phase3 v5 | rs10278040 | Blood metabolite levels | 1.0E-29 | (5alpha-androstan-3beta,17beta-diol disulfate) | CYP3A5 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
7:99025328:C:T | 7 | 99025328 | 0.400943 | 93473 | ref1: TG phase3 v5 | rs11761528 | Dehydroepiandrosterone sulphate levels | 3.0E-36 | ZKSCAN5 | Zhai G | 2011-04-14T0:0:0+0000 | 21533175 | |
7:99025328:C:T | 7 | 99025328 | 0.384652 | 50503 | ref1: TG phase3 v5 | rs10235235 | Diffuse cutaneous systemic sclerosis | 2.0E-6 | (EA) | ATP5J2, CPSF4 | Gorlova OY | 2018-01-02T0:0:0+0000 | 29293537 |
7:99025328:C:T | 7 | 99025328 | 0.384652 | 138623 | ref1: TG phase3 v5 | rs11974702 | Blood metabolite levels | 3.0E-75 | (epiandrosterone sulfate) | CYP3A5 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
7:99025328:C:T | 7 | 99025328 | 0.384652 | 159450 | ref1: TG phase3 v5 | rs7809615 | Blood metabolite ratios | 8.0E-139 | (androsterone sulfate/4-androsten-3beta,17beta-diol disulfate 2) | CYP3A5 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
7:99025328:C:T | 7 | 99025328 | 0.341977 | 90349 | ref1: TG phase3 v5 | rs12533251 | Blood metabolite levels | 2.0E-11 | (X-18601) | CYP3A5 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
7:99025328:C:T | 7 | 99025328 | 0.302172 | 464243 | ref1: TG phase3 v5 | rs17277546 | Metabolic traits | 9.0E-40 | (androsterone sulfate + 2 other traits) | CYP3A4 | Suhre K | 2011-08-31T0:0:0+0000 | 21886157 |
7:99025328:C:T | 7 | 99025328 | 0.302172 | 464243 | ref1: TG phase3 v5 | rs17277546 | Dehydroepiandrosterone sulphate levels | 2.0E-11 | TRIM4, CYP3A43 | Zhai G | 2011-04-14T0:0:0+0000 | 21533175 | |
7:99025328:C:T | 7 | 99025328 | 0.302172 | 464243 | ref1: TG phase3 v5 | rs17277546 | Estrone levels | 6.0E-14 | TRIM4 | Eriksson AL | 2018-01-09T0:0:0+0000 | 29325096 | |
rs9692804:144058625:G:A | 8 | 144058625 | 0.890801 | 2330 | ref1: TG phase3 v5 | rs62524579 | Diastolic blood pressure | 4.0E-9 | RP11-273G15.2 | Warren HR | 2017-01-30T0:0:0+0000 | 28135244 | |
rs9692804:144058625:G:A | 8 | 144058625 | 0.847672 | 80201 | ref1: TG phase3 v5 | rs10093796 | Estrone levels | 1.0E-8 | CYP11B1/B2 | Eriksson AL | 2018-01-09T0:0:0+0000 | 29325096 | |
rs9692804:144058625:G:A | 8 | 144058625 | 0.610653 | 51521 | ref1: TG phase3 v5 | rs6988985 | Plasma androstenedione levels in resected early stage-receptor positive breast cancer | 7.0E-7 | LOC100288248, CYP11B2 | Dudenkov TM | 2017-04-20T0:0:0+0000 | 28429243 | |
rs9692804:144058625:G:A | 8 | 144058625 | 0.564025 | 62262 | ref1: TG phase3 v5 | rs6418 | Mean arterial pressure | 9.0E-11 | CYP11B2 | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs9692804:144058625:G:A | 8 | 144058625 | 0.52952 | 75664 | ref1: TG phase3 v5 | rs62525059 | Systolic blood pressure | 4.0E-12 | CYP11B1, CYP11B2 | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.991147 | 3358 | ref1: TG phase3 v5 | rs4919687 | Colorectal cancer | 8.0E-12 | CYP17A1 | Zeng C | 2016-03-08T0:0:0+0000 | 26965516 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.773488 | 30405 | ref1: TG phase3 v5 | rs12416687 | Blood pressure | 4.0E-9 | (EA, MAP, Age 50-59) | AS3MT | Simino J | 2014-06-19T0:0:0+0000 | 24954895 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.762841 | 24972 | ref1: TG phase3 v5 | rs9527 | Arsenic metabolism | 3.0E-9 | (DMA%) | AS3MT, C10orf32 | Pierce BL | 2012-02-23T0:0:0+0000 | 22383894 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.658351 | 1682 | ref1: TG phase3 v5 | rs6163 | Waist circumference | 4.0E-8 | (EA) | CYP17A1 | Shungin D | 2015-02-12T0:0:0+0000 | 25673412 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.658351 | 1682 | ref1: TG phase3 v5 | rs6163 | Hip circumference | 2.0E-8 | (EA) | CYP17A1 | Shungin D | 2015-02-12T0:0:0+0000 | 25673412 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.658351 | 1682 | ref1: TG phase3 v5 | rs6163 | Hip circumference | 4.0E-6 | (EA, men) | CYP17A1 | Shungin D | 2015-02-12T0:0:0+0000 | 25673412 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.593722 | 13481 | ref1: TG phase3 v5 | rs4919683 | Sodium levels | 6.0E-15 | WBP1L, CYP17A1 | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.457779 | 27280 | ref1: TG phase3 v5 | rs11191424 | Schizophrenia | 4.0E-20 | ARL3, AS3MT, C10orf32, C10orf32-AS3MT, CNNM2, WBP1L | Li Z | 2017-10-09T0:0:0+0000 | 28991256 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.457779 | 30267 | ref1: TG phase3 v5 | rs7085104 | Schizophrenia | 4.0E-13 | MIR1307, SFXN2, ST13P13, PCGF6, PDCD11, NT5C2, TAF5, AS3MT, C10orf32, INA, USMG5, WBP1L, CNNM2, CALHM1, CALHM2, CYP17A1, CALHM3 | Ripke S | 2013-08-25T0:0:0+0000 | 23974872 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.457779 | 30267 | ref1: TG phase3 v5 | rs7085104 | Immature fraction of reticulocytes | 4.0E-11 | C10orf32-ASMT | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.452344 | 13729 | ref1: TG phase3 v5 | rs11191419 | Schizophrenia | 3.0E-18 | NR | Goes FS | 2015-07-21T0:0:0+0000 | 26198764 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.452344 | 13729 | ref1: TG phase3 v5 | rs11191419 | Schizophrenia | 6.0E-19 | ARL3, AS3MT, C10orf32, CNNM2, CYP17A1, INA, NT5C2, PCGF6, PDCD11, SFXN2, TAF5, TRIM8, USMG5, WBP1L | Ripke S | 2014-07-22T0:0:0+0000 | 25056061 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.452344 | 13729 | ref1: TG phase3 v5 | rs11191419 | Autism spectrum disorder or schizophrenia | 1.0E-16 | AS3MT, BORCS7, BORCS7-ASMT, CNNM2, CYP17A1, NT5C2, SFXN2, WBP1L | Anney RJL | 2017-05-22T0:0:0+0000 | 28540026 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.376846 | 184385 | ref1: TG phase3 v5 | rs3850699 | Prostate cancer | 5.0E-10 | CNNM2, CUEDC2, CYP17A1, FBXL15, LOC100505761, MIR146B, PSD, SFXN2, SUFU, TMEM180, ARL3, ACTR1A, AS3MT, TRIM8, C10orf32, C10orf32-AS3MT, WBP1L, C10orf95 | Eeles RA | 2013-04-01T0:0:0+0000 | 23535732 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.376846 | 184385 | ref1: TG phase3 v5 | rs3850699 | Prostate cancer | 6.0E-16 | Intergenic | Schumacher FR | 2018-06-11T0:0:0+0000 | 29892016 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.360796 | 28322 | ref2: TG phase1 v3 | rs73351820 | Chloride levels | 3.0E-10 | WBP1L | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.350791 | 192989 | ref1: TG phase3 v5 | rs200510190 | Mean corpuscular volume | 5.0E-17 | CNNM2 | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.350791 | 192989 | ref1: TG phase3 v5 | rs200510190 | Mean corpuscular hemoglobin | 2.0E-21 | CNNM2 | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.321395 | 100372 | ref1: TG phase3 v5 | rs4919694 | Arsenic metabolism | 3.0E-8 | (MMA%) | CNNM2 | Pierce BL | 2012-02-23T0:0:0+0000 | 22383894 |
rs10786714:104598606:G:C | 10 | 104598606 | 0.317269 | 249912 | ref1: TG phase3 v5 | rs35879747 | White blood cell count | 4.0E-9 | SUFU | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.311479 | 156825 | ref2: TG phase1 v3 | rs10883817 | White matter lesion progression | 1.0E-6 | CNNM2, AS3MT, NT5C2 | Hofer E | 2015-10-08T0:0:0+0000 | 26451028 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.305625 | 71015 | ref1: TG phase3 v5 | rs9663140 | Creatine kinase levels | 3.0E-9 | BORCS7-ASMT, CNNM2 | Kanai M | 2018-02-05T0:0:0+0000 | 29403010 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.303627 | 150112 | ref1: TG phase3 v5 | rs1890185 | Migraine | 4.0E-7 | intergenic | Anttila V | 2013-06-23T0:0:0+0000 | 23793025 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.302494 | 268352 | ref1: TG phase3 v5 | rs7896547 | Reticulocyte fraction of red cells | 3.0E-55 | NT5C2 | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.302494 | 268352 | ref1: TG phase3 v5 | rs7896547 | High light scatter reticulocyte count | 1.0E-40 | NT5C2 | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.302494 | 268352 | ref1: TG phase3 v5 | rs7896547 | High light scatter reticulocyte percentage of red cells | 4.0E-42 | NT5C2 | Astle WJ | 2016-11-17T0:0:0+0000 | 27863252 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.30092 | 177302 | ref1: TG phase3 v5 | rs7914558 | Schizophrenia | 2.0E-8 | CNNM2 | Ripke S | 2011-09-18T0:0:0+0000 | 21926974 | |
rs10786714:104598606:G:C | 10 | 104598606 | 0.30092 | 177302 | ref1: TG phase3 v5 | rs7914558 | Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | 2.0E-9 | (Modelling analysis) | CNNM2 | Smoller JW | 2013-02-27T0:0:0+0000 | 23453885 |
rs28620926:40357171:A:G | 15 | 40357171 | 1 | 3570 | ref1: TG phase3 v5 | rs7181230 | Dehydroepiandrosterone sulphate levels | 5.0E-11 | BMF | Zhai G | 2011-04-14T0:0:0+0000 | 21533175 | |
rs28620926:40357171:A:G | 15 | 40357171 | 0.718617 | 17677 | ref1: TG phase3 v5 | rs4924410 | Ewing sarcoma | 7.0E-9 | BMF, SRP14, EIF2AK4 | Postel-Vinay S | 2012-02-12T0:0:0+0000 | 22327514 | |
rs28620926:40357171:A:G | 15 | 40357171 | 0.467712 | 35047 | ref1: TG phase3 v5 | rs937213 | Endometrial cancer | 2.0E-8 | EIF2AK, BMF | Cheng TH | 2016-05-02T0:0:0+0000 | 27135401 | |
rs28620926:40357171:A:G | 15 | 40357171 | 0.467712 | 35047 | ref1: TG phase3 v5 | rs937213 | Endometrial endometrioid carcinoma | 2.0E-7 | EIF2AK, BMF | Cheng TH | 2016-05-02T0:0:0+0000 | 27135401 | |
rs17601876:51553909:A:G | 15 | 51553909 | 1 | 0 | ref1: TG phase3 v5 | rs17601876 | Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer | 4.0E-6 | CYP19A1 | Dudenkov TM | 2017-04-20T0:0:0+0000 | 28429243 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.682076 | 8455 | ref1: TG phase3 v5 | rs12907866 | Menarche (age at onset) | 4.0E-7 | (AA) | CYP19A1 | Demerath EW | 2013-04-17T0:0:0+0000 | 23599027 |
rs17601876:51553909:A:G | 15 | 51553909 | 0.525037 | 16103 | ref1: TG phase3 v5 | rs2414098 | Endometrial cancer | 5.0E-13 | CYP19A1 | Cheng TH | 2016-05-02T0:0:0+0000 | 27135401 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.525037 | 16103 | ref1: TG phase3 v5 | rs2414098 | Endometrial endometrioid carcinoma | 2.0E-13 | CYP19A1 | Cheng TH | 2016-05-02T0:0:0+0000 | 27135401 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.525037 | 16103 | ref1: TG phase3 v5 | rs2414098 | Total body bone mineral density | 2.0E-8 | CYP19A1 | Medina-Gomez C | 2018-01-04T0:0:0+0000 | 29304378 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.457981 | 29617 | ref1: TG phase3 v5 | rs2414095 | Hormone measurements | 7.0E-31 | (Oestradiol) | CYP19A1 | Chen Z | 2013-09-18T0:0:0+0000 | 24049095 |
rs17601876:51553909:A:G | 15 | 51553909 | 0.457981 | 29617 | ref1: TG phase3 v5 | rs2414095 | Follicule stimulating hormone | 2.0E-16 | (FSH) | CYP19A1 | Chen Z | 2013-09-18T0:0:0+0000 | 24049095 |
rs17601876:51553909:A:G | 15 | 51553909 | 0.457981 | 29617 | ref1: TG phase3 v5 | rs2414095 | Total body bone mineral density | 6.0E-10 | (European) | NR | Medina-Gomez C | 2018-01-04T0:0:0+0000 | 29304378 |
rs17601876:51553909:A:G | 15 | 51553909 | 0.45403 | 19362 | ref1: TG phase3 v5 | rs727479 | Estradiol levels | 5.0E-7 | MIR4713, CYP19A1 | Prescott J | 2012-06-04T0:0:0+0000 | 22675492 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.45403 | 19362 | ref1: TG phase3 v5 | rs727479 | Estradiol levels | 8.0E-30 | CYP19A1 | Eriksson AL | 2018-01-09T0:0:0+0000 | 29325096 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.45403 | 19362 | ref1: TG phase3 v5 | rs727479 | Estrone levels | 2.0E-22 | CYP19A1 | Eriksson AL | 2018-01-09T0:0:0+0000 | 29325096 | |
rs17601876:51553909:A:G | 15 | 51553909 | 0.341881 | 37854 | ref1: TG phase3 v5 | rs2899472 | Cerebrospinal fluid AB1-42 levels | 2.0E-9 | (Controls) | CYP19A1 | Han MR | 2010-10-08T0:0:0+0000 | 20932310 |
rs17601876:51553909:A:G | 15 | 51553909 | 0.341881 | 37854 | ref1: TG phase3 v5 | rs2899472 | Estrone levels | 6.0E-23 | CYP19A1 | Eriksson AL | 2018-01-09T0:0:0+0000 | 29325096 | |
rs57159061:81590962:T:C | 16 | 81590962 | 0.964168 | 351 | ref2: TG phase1 v3 | rs2911280 | Dehydroepiandrosterone sulphate levels | 6.0E-10 | CMIP | Prins BP | 2017-09-08T0:0:0+0000 | 28887542 | |
rs296360:48388658:T:C | 19 | 48388658 | 0.984441 | 3601 | ref1: TG phase3 v5 | rs2547231 | Blood metabolite levels | 3.0E-22 | (5alpha-androstan-3beta,17beta-diol disulfate) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.984441 | 3601 | ref1: TG phase3 v5 | rs2547231 | Blood metabolite levels | 4.0E-16 | (X-12850) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.984441 | 3601 | ref1: TG phase3 v5 | rs2547231 | Blood metabolite levels | 3.0E-11 | (X-12456) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.984441 | 3601 | ref1: TG phase3 v5 | rs2547231 | Blood metabolite ratios | 3.0E-191 | (X-11440/4-androsten-3beta,17beta-diol disulfate 2) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.984441 | 3601 | ref1: TG phase3 v5 | rs2547231 | Gallstone disease | 1.0E-7 | (EA) | SULT2A1 | Joshi AD | 2016-04-16T0:0:0+0000 | 27094239 |
rs296360:48388658:T:C | 19 | 48388658 | 0.901025 | 17556 | ref1: TG phase3 v5 | rs296381 | Blood metabolite levels | 5.0E-143 | (X-11440) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.901025 | 17556 | ref1: TG phase3 v5 | rs296381 | Blood metabolite levels | 1.0E-10 | (X-13429) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.851638 | 23135 | ref1: TG phase3 v5 | rs296396 | Blood metabolite levels | 1.0E-92 | (4-androsten-3beta,17beta-diol disulfate 1) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.851638 | 23135 | ref1: TG phase3 v5 | rs296396 | Blood metabolite levels | 1.0E-12 | (dehydroisoandrosterone sulfate (DHEA-S)) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
rs296360:48388658:T:C | 19 | 48388658 | 0.719171 | 13235 | ref1: TG phase3 v5 | rs2637125 | Dehydroepiandrosterone sulphate levels | 3.0E-19 | SULT2A1 | Zhai G | 2011-04-14T0:0:0+0000 | 21533175 | |
rs296360:48388658:T:C | 19 | 48388658 | 0.719171 | 13235 | ref1: TG phase3 v5 | rs2637125 | Sex hormone levels | 2.0E-6 | (DHEAS) | SULT2A1 | Ruth KS | 2015-05-27T0:0:0+0000 | 26014426 |
rs296360:48388658:T:C | 19 | 48388658 | 0.502652 | 16463 | ref1: TG phase3 v5 | rs182420 | Blood metabolite levels | 6.0E-12 | (androsterone sulfate) | SULT2A1 | Shin SY | 2014-05-11T0:0:0+0000 | 24816252 |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
Supplement Table 5: Sex-interaction test for the 14 novel , two candidate and eight known SNPs. Betas, se, p-values and r² correspond to the top phenotype. Differences of Betas between men and women is calculated. Typ "novel1" denotes novel SNPs with candidate genes in metabolism, "novel2": WNT4 pathway, "novel3": other biological plausibility and "novel4" other hits. "Candidate" refers to the two tested candidate genes of the steroid pathway and "known" to previously published loci replicated in our data. | ||||||||||||||||||
ALL | MEN | WOMEN | MEN vs. WOMEN | |||||||||||||||
NR | SNP | typ | toppheno | beta A | se A | p A | r² | beta M | se M | p M | r² | beta F | se F | p F | r² | meandiff | meandiff se | meandiff p |
1 | rs145827824:32103749:C:G | novel1 | OHP17 | 0.699809 | 0.0846222 | 2.37316E-16 | 0.0319818497126429 | 0.57225 | 0.107828 | 1.300361E-7 | 0.0203185915121582 | 0.797658 | 0.139096 | 1.44797E-8 | 0.0441483686470693 | 0.225408 | 0.175995951089791 | 0.200279124359685 |
2 | rs9692804:144058625:G:A | novel1 | ANDRO | 0.0900147 | 0.014171 | 2.60575E-10 | 0.0191192886390141 | 0.0817186 | 0.0161876 | 5.06646E-7 | 0.0184205500505195 | 0.104987 | 0.0269745 | 1.08778E-4 | 0.0208324930138488 | 0.0232684 | 0.0314588945134758 | 0.459515699740819 |
3 | rs10786714:104598606:G:C | novel1 | PROG | 0.0509603 | 0.0177716 | 0.00417911 | 0.00395656971585695 | 0.0951468 | 0.0158349 | 2.40027E-9 | 0.0258977770327949 | -0.0203393 | 0.0359371 | 0.571415 | 2.53957214651262E-4 | -0.1154861 | 0.039271098971381 | 0.00327429013698352 |
4 | rs5935876:6922078:G:A | novel1 | DHEAS | -0.0971084 | 0.0168501 | 8.26019E-9 | 0.00431774836225664 | -0.0563848 | 0.0185186 | 0.00232865 | 0.00215081595988309 | -0.188607 | 0.0333804 | 1.60237E-8 | 0.00941764761225234 | -0.1322222 | 0.0381731535260057 | 5.32704478173989E-4 |
5 | rs142754737:43865714:C:T | novel1 | PROG | 0.345894 | 0.0696468 | 7.38104E-7 | 0.011775222344794 | 0.13656 | 0.0627846 | 0.0297984 | 0.00347160783283134 | 0.798375 | 0.138746 | 8.70534E-9 | 0.0255859396364667 | 0.661815 | 0.15229037564193 | 1.38804321544915E-5 |
6 | rs615567:22319209:A:T | novel2 | DHEAS | -0.0778523 | 0.0102432 | 2.95296E-14 | 0.00748576629389003 | -0.0716892 | 0.0128678 | 2.52996E-8 | 0.00716484120112273 | -0.0851216 | 0.016306 | 1.78662E-7 | 0.00804996120846394 | -0.0134324 | 0.0207717575770564 | 0.517847801706131 |
7 | rs139203625:95099865:C:T | novel2 | PROG | 0.524075 | 0.0786923 | 3.5044E-11 | 0.0209770746758675 | 0.141194 | 0.0754369 | 0.0614656 | 0.00257303770999889 | 0.742308 | 0.145465 | 3.34319E-7 | 0.0202329406203473 | 0.601114 | 0.163862113090885 | 2.44060166246191E-4 |
8 | rs114341625:112578458:G:A | novel2 | CORT | -0.128447 | 0.0221222 | 6.38988E-9 | 0.00437784509928099 | -0.115467 | 0.0284758 | 5.01527E-5 | 0.00380835433897128 | -0.142245 | 0.0347362 | 4.221415E-5 | 0.00495720698306317 | -0.026778 | 0.0449163085758391 | 0.55105803140794 |
9 | rs36139342:119204625:A:AC | novel3 | DHEAS | -0.0871928 | 0.0127335 | 7.5155E-12 | 0.00608475290442499 | -0.0882746 | 0.0160836 | 4.05368E-8 | 0.00695511675419705 | -0.0861025 | 0.0201414 | 1.91231E-5 | 0.00541270588370993 | 0.0021721 | 0.0257751466129681 | 0.932840888203353 |
10 | rs72906582:45222771:G:A | novel3 | PROG | 0.140791 | 0.0281928 | 6.41478E-7 | 0.0119042503598791 | 0.0347859 | 0.0256685 | 0.175581 | 0.001350575271681 | 0.318619 | 0.0551308 | 7.50028E-9 | 0.0258039405911259 | 0.2838331 | 0.0608134606883213 | 3.05221788841475E-6 |
11 | rs77032081:13363279:C:T | novel3 | PROG | 0.260374 | 0.064853 | 6.16122E-5 | 0.00772673527705935 | -0.0275468 | 0.0600816 | 0.646675 | 1.54771980797443E-4 | 0.704529 | 0.124815 | 1.65582E-8 | 0.0246440586562044 | 0.7320758 | 0.138522860508871 | 1.25791624324875E-7 |
12 | rs79589801:211054061:C:T | novel3 | PROG | 0.371084 | 0.0735692 | 4.95707E-7 | 0.0121416227060612 | 0.0592719 | 0.0675164 | 0.38016 | 5.67195756931239E-4 | 0.808409 | 0.144331 | 2.13009E-8 | 0.0242747898035652 | 0.7491371 | 0.159342090578604 | 2.58334591922377E-6 |
13 | rs77533229:43479638:G:A | novel4 | DHEAS | -0.149331 | 0.0371098 | 5.72072E-5 | 0.00210976179656694 | 0.0646403 | 0.0455445 | 0.155819 | 4.68125237191188E-4 | -0.425435 | 0.0604601 | 1.96952E-12 | 0.0145308510329337 | -0.4900753 | 0.0756949481290528 | 9.52233455048058E-11 |
14 | rs35679777:68034459:CG:C | novel4 | E2 | 0.0577234 | 0.00995841 | 6.77367E-9 | 0.00491814635476158 | 0.0393347 | 0.0122194 | 0.001286261 | 0.0024663902655351 | 0.0741314 | 0.0159642 | 3.42364E-6 | 0.00820335840342423 | 0.0347967 | 0.0201039652307698 | 0.0834807241156056 |
15 | rs139441768:90679263:T:C | novel4 | PROG | 0.45207 | 0.0791544 | 1.2839E-8 | 0.0155131793641832 | 0.155067 | 0.0794433 | 0.0511532 | 0.00279774224677392 | 0.6113884 | 0.1479081 | 3.571708E-5 | 0.0133687333261586 | 0.4563214 | 0.16789295387389 | 0.00656916115924446 |
16 | rs10802103:120046363:T:G | candidate | OHP17 | 0.0742372 | 0.0212962 | 5.00673E-4 | 0.00583615145860054 | 0.109994 | 0.0229919 | 1.90638E-6 | 0.0165741069350453 | 0.00183185 | 0.0429944 | 0.966027 | 2.54961691370304E-6 | -0.10816215 | 0.0487559831915017 | 0.0265249488118186 |
17 | rs111447088:74677767:C:T | candidate | E2 | 0.0769748 | 0.0292781 | 0.00856136 | 0.00101575469326974 | 0.0421165 | 0.0360749 | 0.24302 | 3.25113793167891E-4 | 0.138465 | 0.046583 | 0.00295457 | 0.00337765044874059 | 0.0963485 | 0.0589183697925358 | 0.101988698980714 |
18 | 7:99025328:C:T | known | DHEAS | -0.303133 | 0.0273303 | 1.38041E-28 | 0.0158083034729316 | -0.325069 | 0.0342714 | 2.42041E-21 | 0.0204893018178627 | -0.274535 | 0.0435938 | 3.02335E-10 | 0.0116725608306703 | 0.050534 | 0.0554522159737553 | 0.362133568718998 |
19 | rs17601876:51553909:A:G | known | E2 | 0.0694361 | 0.00959628 | 4.63034E-13 | 0.00764278580420531 | 0.07022449 | 0.01173398 | 2.167724E-9 | 0.00847369987445793 | 0.063851 | 0.0154557 | 3.60851E-5 | 0.00650403879015907 | -0.00637349 | 0.0194052814751655 | 0.742578249285235 |
20 | rs296360:48388658:T:C | known | DHEAS | -0.0922151 | 0.0132595 | 3.53466E-12 | 0.00627543368568438 | -0.0489511 | 0.0166344 | 0.00325303 | 0.0020094057258959 | -0.142747 | 0.0211364 | 1.44222E-11 | 0.0134008390478737 | -0.0937959 | 0.0268970382815655 | 4.88069000787754E-4 |
21 | rs35695070:7343539:GC:G | known | TESTO | 0.0408821 | 0.0102775 | 6.95496E-5 | 0.0020659955574228 | 0.0734806 | 0.0108972 | 1.55046E-11 | 0.0104852622366578 | -0.00266917 | 0.0173836 | 0.877968 | 7.03341049213454E-6 | -0.07614977 | 0.0205167862200687 | 2.05966509652501E-4 |
22 | rs28620926:40357171:A:G | known | DHEAS | 0.0694955 | 0.0103873 | 2.22548E-11 | 0.00581038847036012 | 0.0579013 | 0.0129378 | 7.62889E-6 | 0.00463520128100538 | 0.0847209 | 0.0167034 | 3.93479E-7 | 0.00760284570879682 | 0.0268196 | 0.0211279492710485 | 0.204302127976962 |
23 | rs9989237:94795202:C:T | known | CORT | 0.0403298 | 0.00692366 | 5.71375E-9 | 0.00440592915061133 | 0.0370085 | 0.00898525 | 3.80851E-5 | 0.0039288329366859 | 0.0452752 | 0.0107792 | 2.66617E-5 | 0.00521390709645587 | 0.0082667 | 0.0140330278344518 | 0.555801683604618 |
24 | rs57159061:81590962:T:C | known | DHEAS | 0.117829 | 0.020964 | 1.90331E-8 | 0.00410767804061758 | 0.0912883 | 0.0257788 | 3.98277E-4 | 0.00290717378630682 | 0.149075 | 0.0342206 | 1.32287E-5 | 0.00561961101498629 | 0.0577867 | 0.0428438559632534 | 0.177409410704373 |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
AA
AB
AC
AD
AE
AF
AG
AH
AI
AJ
AK
AL
AM
AN
AO
AP
AQ
AR
AS
AT
AU
AV
AW
AX
AY
AZ
BA
BB
BC
BD
BE
BF
BG
BH
BI
BJ
BK
BL
BM
BN
BO
BP
BQ
BR
BS
BT
BU
BV
BW
BX
BY
BZ
CA
CB
CC
CD
CE
CF
CG
CH
CI
CJ
CK
CL
CM
CN
CO
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
Supplemental Table 6: Genetic association and annotation for steroid hormone loci HSD3B and CYP11A1. The two strongest associations of the respective loci are colored blue | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNP INFO | top phenotype | Annotation with nearby genes, eQTLs in LD, known traits of other GWAS, and pathway enrichment | PROG ALL | PROG MEN | PROG WOMEN | 17-OHP ALL | 17-OHP MEN | 17-OHP WOMEN | ANDRO ALL | ANDRO MEN | ANDRO WOMEN | DHEAS ALL | DHEAS MEN | DHEAS WOMEN | TESTO ALL | TESTO MEN | TESTO WOMEN | E2 ALL | E2 MEN | E2 WOMEN | CORT ALL | CORT MEN | CORT WOMEN | ALDO ALL | ALDO MEN | ALDO WOMEN | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNP | status | chr | position | Cytoband | EA | OA | info-score | phenotype | N | log-p | EAF | Cochran's Q | nearest genes (functional relevance) | correlating GWAS | cis-eQTL genes | trans-eQTL genes | KEGG pathway | Reactome pathway | DOSE pathway | GO pathway | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p | beta | se | log p |
rs10802103:120046363:T:G | candidate | 1 | 120046363 | 1p12 | G | T | 0.975 | OHP17 MEN | 1358 | 5.71979052685925 | 0.736599779086892 | HSD3B1 (3.5 kb, near gene/Upstream gene/MODIFIER); GAPDHP58 (6.9 kb); HSD3BP1 (30 kb); GAPDHP32 (30 kb); HSD3BP3 (35 kb); GAPDHP23 (41 kb) | NA | FCGR1B | GAPDHP58 | HAO2 | PHGDH | RP11-418J17.1 | WARS2 | KIAA2026 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0191035 | 0.0194092 | 0.487971007753227 | 0.0341763 | 0.0175658 | 1.28476486737654 | 0.0209635 | 0.038419 | 0.232619249881878 | 0.0742372 | 0.0212962 | 3.30044582834781 | 0.109994 | 0.0229919 | 5.71979052685925 | 0.00183185 | 0.0429944 | 0.0150107350885 | 0.00643892 | 0.0159347 | 0.163552450780459 | -0.00618339 | 0.0182638 | 0.133716206191352 | 0.0229447 | 0.0301448 | 0.349865451842501 | -0.0239322 | 0.0115021 | 1.42639165142206 | -0.0174316 | 0.0142861 | 0.652873028212057 | -0.0354766 | 0.0185494 | 1.25332299636817 | 0.00135796 | 0.0113517 | 0.04345700797831 | 0.0215334 | 0.011918 | 1.14999925427226 | -0.0137358 | 0.019266 | 0.32250802280156 | 0.0158579 | 0.0110218 | 0.823286697878035 | 0.00977458 | 0.0134593 | 0.330034487245272 | 0.0215172 | 0.017753 | 0.646857305638862 | 0.00158508 | 0.00660255 | 0.0913670245038793 | 2.02522E-4 | 0.008509 | 0.008326122882521 | 0.00296363 | 0.0103708 | 0.110666357009592 | 0.00897889 | 0.0319685 | 0.108550636663544 | 0.0424052 | 0.0400917 | 0.537022829964501 | -0.0491613 | 0.0529096 | 0.452056776761485 | |
rs182134740:119947330:G:A | 1 | 119947330 | 1p12 | A | G | 0.924 | OHP17 ALL | 2070 | 4.56986848338261 | 0.0154926072463768 | HSD3B2 (10 kb); HAO2 (11 kb); HSD3BP2 (34 kb); HAO2-IT1 (34 kb) | NA | HIST2H3DP1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.107455 | 0.0713061 | 0.879505038606515 | 0.0309117 | 0.0633554 | 0.203638703706159 | 0.10332 | 0.139731 | 0.337573680385638 | 0.328856 | 0.0781589 | 4.56986848338261 | 0.209112 | 0.0833209 | 1.91369356947064 | 0.552844 | 0.162764 | 3.142418458849 | 0.0585147 | 0.058548 | 0.497978684205606 | 0.0115491 | 0.0657888 | 0.0651608117894603 | 0.139535 | 0.114973 | 0.647256157270435 | -0.0156709 | 0.0441439 | 0.141106850926159 | -0.0338651 | 0.0545905 | 0.271622677420566 | -0.0188325 | 0.0717587 | 0.100737218349496 | 0.0430916 | 0.0431081 | 0.498261741833015 | 0.0306529 | 0.045339 | 0.301909898457667 | 0.050365 | 0.0741764 | 0.303517797690704 | 0.0524807 | 0.0423234 | 0.667605981793553 | 0.0956524 | 0.0519296 | 1.18388734979316 | 0.0137399 | 0.0680494 | 0.075727435214253 | 0.0628538 | 0.0251682 | 1.90265243864152 | 0.0305167 | 0.0322771 | 0.462905332921058 | 0.0974084 | 0.0398001 | 1.84201768192682 | 0.25384 | 0.118355 | 1.49355991368197 | 0.196586 | 0.145727 | 0.750630405308484 | 0.379198 | 0.202902 | 1.20712245274492 | |||
rs5777396:120021365:CA:C | 1 | 120021365 | 1p12 | C | CA | 0.971 | OHP17 MEN | 1358 | 4.50961446355099 | 0.70309646539028 | HSD3BP1 (4.9 kb); GAPDHP23 (16 kb); GAPDHP58 (17 kb); HSD3B1 (28 kb); HSD3BP2 (33 kb) | NA | FCGR1B | GAPDHP58 | PHGDH | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0500451 | 0.0185882 | 2.14549781072728 | 0.0432074 | 0.0167141 | 2.00704374264939 | 0.051171 | 0.0367992 | 0.78419594047201 | 0.0794565 | 0.0204116 | 3.99023900459377 | 0.0917388 | 0.0219435 | 4.50961446355099 | 0.0459779 | 0.0417624 | 0.566556609447892 | 0.0101112 | 0.0152828 | 0.293880744703964 | -0.010099 | 0.0173954 | 0.250545835648141 | 0.0399291 | 0.0292796 | 0.761730531148853 | -0.0115188 | 0.0110293 | 0.528255157190295 | -0.0103957 | 0.0137047 | 0.348603734408614 | -0.0171133 | 0.0177898 | 0.473579300027928 | 0.00151602 | 0.0108837 | 0.0509917546757541 | 0.00605245 | 0.0114327 | 0.224369166477967 | -0.00327018 | 0.0185506 | 0.0654656956919568 | 0.00912996 | 0.0105534 | 0.412318213368305 | -0.00203801 | 0.0129197 | 0.058161727260122 | 0.0238698 | 0.0169469 | 0.798652043875752 | 0.00189477 | 0.0063305 | 0.116506070180744 | -3.02017E-4 | 0.0081557 | 0.0130223604685936 | 0.00348004 | 0.00994526 | 0.138824762359742 | 0.0418376 | 0.0306361 | 0.763944155157635 | 0.071392 | 0.0382367 | 1.20682868158326 | -0.00887003 | 0.0511874 | 0.0642514705099348 | |||
rs4659181:120015567:C:G | 1 | 120015567 | 1p12 | G | C | 0.958 | OHP17 MEN | 1358 | 4.33636596676425 | 0.680507731958763 | HSD3BP1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); GAPDHP23 (9.9 kb); GAPDHP58 (23 kb); HSD3BP2 (27 kb); HSD3B1 (34 kb); HSD3B2 (50 kb) | NA | FCGR1B | GAPDHP58 | HAO2 | PHGDH | RP11-418J17.1 | WARS2 | KIAA2026 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0340485 | 0.0182719 | 1.20381920761531 | 0.0268753 | 0.0166766 | 0.969440754708844 | 0.038862 | 0.035894 | 0.554478304948904 | 0.0653648 | 0.020068 | 2.94176003313346 | 0.0893918 | 0.0218675 | 4.33636596676425 | 0.0132836 | 0.0400129 | 0.130767693384985 | 0.00716376 | 0.0150099 | 0.198445376575843 | -0.00662925 | 0.0173314 | 0.153568862776747 | 0.0229509 | 0.0280547 | 0.383429970391197 | -0.0100992 | 0.0108862 | 0.451533189746628 | -0.0136377 | 0.0135597 | 0.502332402001608 | -0.00982957 | 0.0175232 | 0.240456796828511 | 0.00383547 | 0.0107336 | 0.142158712076176 | 0.00492063 | 0.0113163 | 0.178035380307166 | -0.00346515 | 0.0181273 | 0.0713972925672716 | 0.00403395 | 0.0104047 | 0.155999007351017 | 2.78691E-4 | 0.0127673 | 0.00762987002712044 | 0.0058628 | 0.0166507 | 0.139806382904916 | -0.00186868 | 0.00624696 | 0.11643111065462 | -0.00534883 | 0.0080791 | 0.294192715467974 | 0.00226896 | 0.00977837 | 0.0880395557664623 | -0.00345178 | 0.0301186 | 0.041546496068096 | 0.0227665 | 0.0381325 | 0.259174047019907 | -0.0440529 | 0.0490974 | 0.431915668684606 | ||
rs33952871:119956030:C:CA | 1 | 119956030 | 1p12 | CA | C | 0.977 | OHP17 MEN | 1358 | 4.29657276485957 | 0.678617083946981 | HSD3B2 (1.5 kb, near gene/Upstream gene/MODIFIER); HAO2 (19 kb); HSD3BP2 (26 kb); HAO2-IT1 (43 kb); GAPDHP23 (49 kb) | 0.543 Blood metabolite levels | FCGR1B | GAPDHP58 | HAO2 | HAO2-IT1 | PHGDH | RP11-418J17.1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.032742 | 0.0177442 | 1.18609824566971 | 0.0204462 | 0.0160156 | 0.694758293004303 | 0.0722446 | 0.0352878 | 1.39116386681527 | 0.0663336 | 0.0194834 | 3.17055341602258 | 0.0853709 | 0.0209947 | 4.29657276485957 | 0.0268024 | 0.0395564 | 0.302541361459161 | 0.00170029 | 0.0145769 | 0.0423189801141647 | -0.00389875 | 0.0166392 | 0.0889601729728677 | 0.00857756 | 0.0277527 | 0.120698209323087 | -0.0287356 | 0.0107544 | 2.12259582409067 | -0.0291613 | 0.0133902 | 1.53135585542309 | -0.0310225 | 0.0173045 | 1.13659564294577 | 5.4119E-4 | 0.0105687 | 0.0181084881964608 | 0.0169932 | 0.011157 | 0.893700287682139 | -0.0233938 | 0.0179147 | 0.717593162042043 | 0.0105021 | 0.0103148 | 0.510602670969636 | 0.0167361 | 0.0126715 | 0.729134911260221 | -0.00849634 | 0.0164604 | 0.217716614653121 | 0.00240092 | 0.00616231 | 0.156878146278559 | -0.00177073 | 0.00795403 | 0.0841618699716949 | 0.00759929 | 0.00965852 | 0.365118852525132 | -0.0427783 | 0.0292487 | 0.842413295406294 | -0.0217404 | 0.0366831 | 0.256869820835341 | -0.0796844 | 0.0483834 | 0.999861047996926 | |||
rs11802093:119990519:A:G | 1 | 119990519 | 1p12 | G | A | 0.986 | ALDO ALL | 1993 | 4.13606301785141 | 0.0869237832413447 | HSD3BP2 (1.8 kb, near gene/Downstream gene/MODIFIER); GAPDHP23 (14 kb); HSD3BP1 (19 kb); HSD3B2 (25 kb); GAPDHP58 (48 kb) | NA | LOC644242 | PHGDH | RP11-114O18.1 | RP11-439A17.9 | RP5-871G17.5 | WARS2 | ZNF697 | PLA2G4C | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.055063 | 0.0304563 | 1.15019867331732 | 0.00916945 | 0.0278317 | 0.129679215634994 | 0.115074 | 0.058687 | 1.30189336211198 | 0.0566793 | 0.033511 | 1.04135108173963 | 0.076062 | 0.0366274 | 1.41995362045201 | 0.0321928 | 0.0664993 | 0.201723049966202 | -0.0465924 | 0.0249981 | 1.20421241035633 | -0.0629316 | 0.028849 | 1.53277382713484 | -0.0117183 | 0.0466495 | 0.0959696984167303 | 0.03043 | 0.0180953 | 1.03321833067313 | -8.79859E-4 | 0.0226209 | 0.0136883242024639 | 0.0674686 | 0.0289713 | 1.70181743291496 | 0.0140033 | 0.0178534 | 0.3636776284646 | 0.0215196 | 0.0188937 | 0.5939540041547 | -0.00548216 | 0.0299943 | 0.0680460761652275 | 0.00195246 | 0.0174039 | 0.0406356317992757 | 0.00166514 | 0.0213326 | 0.0278971812484681 | 3.88662E-4 | 0.0277722 | 0.00487660924704233 | 0.00166468 | 0.0103866 | 0.0591514466170725 | -0.0144613 | 0.0134731 | 0.548038654222276 | 0.0214094 | 0.0161761 | 0.731274636361865 | -0.198897 | 0.0500456 | 4.13606301785141 | -0.167831 | 0.0638693 | 2.06065050483482 | -0.255457 | 0.0803132 | 2.81376432124478 | ||
rs75260979:119938047:CA:CAA | 1 | 119938047 | 1p12 | CAA | CA | 0.936 | ALDO ALL | 1993 | 4.0562612003335 | 0.0712983642749624 | HAO2 (1.3 kb, near gene/Downstream gene/MODIFIER); HSD3B2 (20 kb); HAO2-IT1 (25 kb); HSD3BP2 (44 kb) | NA | FAM72B | HSD3B2 | HSD3BP2 | REG4 | RP11-418J17.1 | WARS2 | FGF9 | SYT5 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0628988 | 0.0344793 | 1.16584135095277 | 0.0272912 | 0.0314263 | 0.414179575488139 | 0.145214 | 0.0656472 | 1.56921568153325 | 0.0779666 | 0.0379255 | 1.39871374167667 | 0.112589 | 0.0413206 | 2.18589963640086 | 0.0318507 | 0.0756545 | 0.171416788340394 | -0.0351093 | 0.0283138 | 0.667331324038898 | -0.0408056 | 0.0326211 | 0.675328706231561 | -0.0142764 | 0.0530695 | 0.103474884782102 | 0.0257946 | 0.0193882 | 0.73665276818458 | 0.00972196 | 0.0241052 | 0.163222201310023 | 0.0458498 | 0.0312414 | 0.847060701987348 | 0.0195722 | 0.0193461 | 0.506279917755575 | 0.0223774 | 0.0202001 | 0.571939755452012 | 0.0139848 | 0.0328723 | 0.173585672874235 | 0.0046854 | 0.0185264 | 0.0967243917907516 | -0.00518214 | 0.0225797 | 0.086993520178038 | 0.0145169 | 0.0299157 | 0.202392498816434 | -0.00711073 | 0.0111852 | 0.279877923430808 | -0.0231193 | 0.014452 | 0.959959679270381 | 0.0120376 | 0.0175022 | 0.308391659522351 | -0.221135 | 0.0562684 | 4.0562612003335 | -0.172592 | 0.0715297 | 1.79683923807466 | -0.312632 | 0.0909256 | 3.20697064616628 | ||
rs71074423:120055204:GA:G | 1 | 120055204 | 1p12 | G | GA | 0.86 | OHP17 ALL | 2070 | 3.8918410487436 | 0.389916666666667 | HSD3B1 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER); GAPDHP58 (16 kb); GAPDHP32 (21 kb); HSD3BP3 (26 kb); HSD3BP1 (39 kb); GAPDHP27 (46 kb); GAPDHP23 (50 kb) | NA | ADAM30 | FCGR1B | GAPDHP32 | GAPDHP58 | HMGCS2 | HSD3BP4 | PHGDH | RP11-418J17.1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0377296 | 0.0184308 | 1.38959963973534 | 0.0238113 | 0.0165319 | 0.82388847434138 | 0.0674899 | 0.0367884 | 1.17670187185877 | 0.07760739999999999 | 0.020226 | 3.8918410487436 | 0.0673868 | 0.0217299 | 2.70601904376557 | 0.0835973 | 0.0416491 | 1.3457290983975 | 0.014279 | 0.0151406 | 0.461245347847723 | 0.00373289 | 0.0171784 | 0.0819665161650591 | 0.0237554 | 0.0292829 | 0.379342479955321 | -0.010985 | 0.0111733 | 0.487403645371523 | 4.30678E-4 | 0.0139345 | 0.0108421833242777 | -0.0299169 | 0.0179406 | 1.02042977455092 | -0.0103159 | 0.0109807 | 0.459053939540034 | 0.00490399 | 0.0116131 | 0.172101752824524 | -0.026597 | 0.0186726 | 0.811538387703679 | -0.00404291 | 0.010709 | 0.15132880658119 | 0.00986374 | 0.0131838 | 0.342602776650849 | -0.01975 | 0.0170563 | 0.607491223168389 | -0.00787076 | 0.00639595 | 0.660592288485951 | -0.0161566 | 0.00825983 | 1.2970518931485 | 0.00142294 | 0.0100174 | 0.0520548373461027 | 0.020576 | 0.0304191 | 0.302025670510856 | 0.0893053 | 0.037755 | 1.74096069022026 | -0.103763 | 0.0512187 | 1.36485618140325 | |||
rs10733104:120113504:G:T | 1 | 120113504 | 1p12 | T | G | 0.99 | OHP17 MEN | 1358 | 3.63213180189985 | 0.608949189985272 | HSD3BP4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); GAPDHP27 (11 kb); HSD3BP3 (25 kb); GAPDHP33 (25 kb); LINC00622 (27 kb); HSD3BP5 (30 kb); GAPDHP32 (36 kb); ZNF697 (49 kb) | NA | ADAM30 | FCGR1B | GAPDHP32 | GAPDHP58 | HMGCS2 | HSD3BP4 | PHGDH | RP11-418J17.1 | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.00566102 | 0.0174149 | 0.127748717510045 | 0.0157396 | 0.015568 | 0.505587967941538 | 0.0014696 | 0.0347266 | 0.0149131898653204 | 0.0489328 | 0.0191299 | 1.97466135903 | 0.0753656 | 0.0204251 | 3.63213180189985 | -0.00906428 | 0.0395028 | 0.0869399315781096 | 0.00422886 | 0.0142947 | 0.114985562286629 | -0.00765224 | 0.0161695 | 0.196468459756456 | 0.0221544 | 0.0276965 | 0.372594198346236 | -0.0100805 | 0.0103271 | 0.482796181858138 | -0.0102898 | 0.0129228 | 0.37070459661844 | -0.0139438 | 0.0165223 | 0.39934940725405 | -0.00684682 | 0.0101891 | 0.299641606359858 | -0.00766719 | 0.0107734 | 0.321787646880876 | -0.00945812 | 0.0173169 | 0.232886451852092 | -0.00133073 | 0.00992872 | 0.0489637742582505 | -0.00151531 | 0.0122087 | 0.0451677332313608 | -0.00552491 | 0.0159178 | 0.137556136555791 | 0.00388749 | 0.00592828 | 0.290744459197537 | 9.32809E-4 | 0.0076788 | 0.044162220367416 | 0.00737971 | 0.00925029 | 0.371614135568616 | 0.0360791 | 0.0287455 | 0.678646019571708 | 0.0600887 | 0.0356001 | 1.03775571367625 | -0.00847563 | 0.048715 | 0.0645280031406744 | |||
rs140961900:119949228:G:T | 1 | 119949228 | 1p12 | T | G | 0.909 | CORT WOMEN | 3366 | 3.48472769981481 | 0.0138706179441473 | 0.0169692 | HSD3B2 (8.3 kb); HAO2 (12 kb); HSD3BP2 (32 kb); HAO2-IT1 (36 kb) | NA | FAM72B | HSD3B2 | HSD3BP2 | REG4 | RP11-418J17.1 | RP5-871G17.5 | WARS2 | FGF9 | SYT5 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | -0.0683419 | 0.072246 | 0.4630894671654 | -0.156693 | 0.0613476 | 1.96849862686773 | 0.197978 | 0.159664 | 0.667587800544671 | 0.0189769 | 0.0795003 | 0.0907858715292253 | 0.0114956 | 0.0810547 | 0.0519593763353033 | 0.0363992 | 0.183542 | 0.0742466172463856 | -0.0346737 | 0.0593094 | 0.252693865164735 | -0.0772356 | 0.0638179 | 0.645135087207356 | 0.0786405 | 0.12871 | 0.266480144229791 | 0.0211643 | 0.0426692 | 0.207686770785426 | 0.00496759 | 0.0513645 | 0.0348194731107159 | 0.0388637 | 0.0716153 | 0.231099329860063 | 0.0597487 | 0.0421009 | 0.807301553322885 | -0.0019958 | 0.0427522 | 0.0164792551991595 | 0.124791 | 0.0765073 | 0.987715481965654 | 0.0349918 | 0.0407548 | 0.408306678067941 | 0.0340586 | 0.0487691 | 0.314303036332763 | 0.0113555 | 0.0684008 | 0.0614072314337156 | 0.0513253 | 0.0244974 | 1.4417847897895 | -0.0125367 | 0.0304832 | 0.166931336025493 | 0.144489 | 0.0402198 | 3.48472769981481 | 0.24887600000000001 | 0.117759 | 1.45981823548078 | 0.277928 | 0.139299 | 1.3350751671416 | 0.179759 | 0.221788 | 0.378890218164903 | |
rs112987949:119971287:C:CTT | 1 | 119971287 | 1p12 | CTT | C | 0.901 | CORT WOMEN | 3366 | 3.39715356242539 | 0.0221000297088532 | 0.0435262 | HSD3B2 (5.6 kb); HSD3BP2 (10 kb); GAPDHP23 (33 kb); HAO2 (35 kb); HSD3BP1 (39 kb) | NA | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | -0.0337822 | 0.0604323 | 0.239414686674773 | -0.0723219 | 0.0516849 | 0.790602958005007 | 0.0443975 | 0.131772 | 0.133020704787675 | -0.0102661 | 0.0664916 | 0.0568464252871096 | 0.00370169 | 0.0681737 | 0.0192215023426775 | -0.0799875 | 0.151502 | 0.223524010321831 | -0.00848167 | 0.0496079 | 0.0633550842080036 | -0.0214276 | 0.0537016 | 0.161184269395492 | 3.35104E-4 | 0.106287 | 0.00109362643440678 | 0.00295581 | 0.0348535 | 0.0303907484881955 | 0.00814041 | 0.0427519 | 0.0710984482373357 | -0.00351976 | 0.0570414 | 0.021911740479698 | 0.0147074 | 0.0345643 | 0.173622593010886 | 0.010515 | 0.0356098 | 0.114764902016344 | 0.0201105 | 0.0615357 | 0.128537403277428 | -0.00849638 | 0.0333529 | 0.097495075863176 | -0.00656672 | 0.0403542 | 0.0601149958571094 | -0.0156426 | 0.0551459 | 0.109761792250934 | 0.05911 | 0.0200513 | 2.49498575991589 | 0.0186737 | 0.0254091 | 0.334994384595378 | 0.113616 | 0.0320984 | 3.39715356242539 | 0.230332 | 0.0987994 | 1.7025327640254 | 0.266389 | 0.117637 | 1.62511057701126 | 0.161891 | 0.183132 | 0.423658649794207 | |||
rs58627883:119937237:C:T | 1 | 119937237 | 1p12 | T | C | 0.824 | CORT WOMEN | 3366 | 3.36521450023854 | 0.019124477124183 | 0.146273 | HAO2 (0.48 kb, near gene/Downstream gene/MODIFIER); HSD3B2 (20 kb); HAO2-IT1 (24 kb); HSD3BP2 (44 kb) | NA | HSD3BP2 | REG4 | RP11-418J17.1 | WARS2 | FGF9 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | -0.0671118 | 0.0696038 | 0.474877415841751 | -0.124563 | 0.0623613 | 1.33745559151779 | 0.0582718 | 0.138819 | 0.170918900378598 | -0.0751054 | 0.0765767 | 0.48570067638695 | -0.0118266 | 0.0823172 | 0.0526736395667871 | -0.225347 | 0.157086 | 0.818562324164961 | -0.0432565 | 0.0571376 | 0.347655010875763 | -0.0465365 | 0.0648346 | 0.325118659988591 | -0.0579106 | 0.110322 | 0.221994262642587 | 0.0218435 | 0.0388538 | 0.241100970172627 | 0.0136135 | 0.0478868 | 0.110030837728135 | 0.0345448 | 0.0632966 | 0.232673419217079 | 0.0425929 | 0.0387837 | 0.565253901650083 | 0.038782 | 0.0400607 | 0.477549245604469 | 0.0571157 | 0.0670668 | 0.404037767965511 | -0.0168163 | 0.0367735 | 0.188787057078183 | -0.0040226 | 0.0449438 | 0.0321329719995414 | -0.0478651 | 0.05939 | 0.376466443173163 | 0.065756 | 0.0224198 | 2.47396328306387 | 0.0200088 | 0.0287119 | 0.313474552521655 | 0.124895 | 0.0354801 | 3.36521450023854 | 0.294372 | 0.113044 | 2.03237995933997 | 0.383283 | 0.140737 | 2.1839211764245 | 0.149641 | 0.190144 | 0.364955796576345 | |
rs74114308:119935543:T:C | 1 | 119935543 | 1p12 | C | T | 0.992 | ALDO WOMEN | 686 | 3.29859609355244 | 0.0711820699708455 | HAO2 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); HSD3B2 (22 kb); HAO2-IT1 (23 kb); HSD3BP2 (46 kb) | NA | LOC644242 | PHGDH | RP11-114O18.1 | RP11-439A17.9 | RP5-871G17.5 | WARS2 | ZNF697 | PLA2G4C | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0588527 | 0.0347342 | 1.04409443565599 | 0.032135 | 0.0319769 | 0.501546083760619 | 0.130849 | 0.0656185 | 1.33589982031234 | 0.0860569 | 0.0381938 | 1.61343861467708 | 0.122246 | 0.0420326 | 2.43266420629663 | 0.0432294 | 0.0749273 | 0.248600788620857 | -0.0401119 | 0.028517 | 0.796703242256529 | -0.039192 | 0.0331979 | 0.623448590429122 | -0.0289223 | 0.0525566 | 0.234867380817238 | 0.0306746 | 0.0201851 | 0.890772540003904 | 0.0125849 | 0.0250113 | 0.211234354353016 | 0.0539196 | 0.0326856 | 1.00429242902 | 0.0202545 | 0.0199998 | 0.506979949791328 | 0.0240171 | 0.0209186 | 0.600468182765603 | 0.00390038 | 0.0338248 | 0.0418189806278742 | 0.0106205 | 0.0192786 | 0.235297203241211 | -0.00679225 | 0.0234823 | 0.112163357591934 | 0.0215951 | 0.031035 | 0.312886804940474 | -7.79563E-4 | 0.0116056 | 0.0239046187741738 | -0.0197588 | 0.0149539 | 0.729558751819074 | 0.0221021 | 0.0182388 | 0.646693632013066 | -0.186884 | 0.0568426 | 2.98821394276218 | -0.114057 | 0.0729425 | 0.927595681339998 | -0.315933 | 0.0903687 | 3.29859609355244 | ||
rs141141351:120067943:G:A | 1 | 120067943 | 1p12 | A | G | 0.871 | E2 ALL | 6798 | 2.85528260778033 | 0.0148187628714328 | 0.00114835 | GAPDHP32 (8.4 kb); HSD3B1 (10 kb); HSD3BP3 (13 kb); GAPDHP58 (28 kb); GAPDHP27 (33 kb); HSD3BP4 (39 kb) | NA | NOTCH2 | WARS2 | SEC22B | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | 0.0593597 | 0.0702443 | 0.399917285654151 | 0.0814827 | 0.0624232 | 0.716691985498185 | -0.04584 | 0.145636 | 0.123236169540293 | -0.00966334 | 0.077295 | 0.0455061550512457 | 0.0782344 | 0.0823028 | 0.465982783103179 | -0.211043 | 0.161208 | 0.719164497818815 | 0.0461947 | 0.0576595 | 0.373527208399811 | 0.0951399 | 0.0648051 | 0.846758477891445 | -0.0714577 | 0.113179 | 0.277362787368939 | -0.0764332 | 0.044894 | 1.05228892800569 | -0.0744665 | 0.0539937 | 0.775099354080279 | -0.0716192 | 0.0756648 | 0.463596870723851 | -0.0503445 | 0.0435195 | 0.606698620163338 | -0.00463935 | 0.0448731 | 0.0373205647224423 | -0.117047 | 0.0764164 | 0.901024191853522 | -0.138826 | 0.043443 | 2.85528260778033 | -0.107528 | 0.0512754 | 1.44384711532295 | -0.169933 | 0.0732769 | 1.69054443701909 | 0.0335251 | 0.0255834 | 0.721129840907816 | 0.0463087 | 0.0319256 | 0.832936816646515 | 0.0164168 | 0.0420264 | 0.157346459619949 | 0.00650389 | 0.11566 | 0.0199229637676668 | 0.130883 | 0.14373 | 0.440494355200699 | -0.227981 | 0.194975 | 0.614932013101014 | |
rs2885796:120111662:T:C | 1 | 120111662 | 1p12 | C | T | 1 | OHP17 MEN | 1358 | 2.84927118398878 | 0.729381443298969 | HSD3BP4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); GAPDHP27 (9.3 kb); HSD3BP3 (23 kb); GAPDHP33 (27 kb); LINC00622 (29 kb); HSD3BP5 (32 kb); GAPDHP32 (34 kb) | NA | FCGR1B | GAPDHP58 | HAO2 | PHGDH | RP11-418J17.1 | WARS2 | ZNF697 | KIAA2026 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.0123226 | 0.0190083 | 0.286612792644305 | 0.0149927 | 0.0171062 | 0.419140002375271 | 0.0218389 | 0.0377916 | 0.249224785014405 | 0.0625917 | 0.0208694 | 2.56238576998275 | 0.0718603 | 0.022469 | 2.84927118398878 | 0.0396228 | 0.0425611 | 0.453221746325239 | 0.0129374 | 0.0156015 | 0.390337304136631 | -0.00620641 | 0.0177662 | 0.138531903264784 | 0.0442878 | 0.0298251 | 0.860089444124317 | -0.0207228 | 0.0113015 | 1.17581882473562 | -0.00942523 | 0.014114 | 0.297340313042871 | -0.0372615 | 0.0181042 | 1.40259005056463 | -0.00507971 | 0.0111455 | 0.18804983999078 | 0.00590317 | 0.0117651 | 0.210530695838414 | -0.00475394 | 0.018883 | 0.0962433400673698 | 0.0109638 | 0.0108308 | 0.506674418566304 | 0.0051299 | 0.0133216 | 0.154792159405236 | 0.0212528 | 0.0173165 | 0.658162036105827 | 0.00590148 | 0.0064869 | 0.440149609570475 | 0.00514919 | 0.00839338 | 0.267962668723708 | 0.00606146 | 0.0101313 | 0.259915347955652 | 0.0464385 | 0.0313164 | 0.859290883061867 | 0.105412 | 0.0389753 | 2.15939901659872 | -0.0624729 | 0.0523864 | 0.631780077867502 | ||
rs10923862:120108452:G:A | 1 | 120108452 | 1p12 | A | G | 0.889 | ALDO MEN | 1307 | 2.77133278106764 | 0.178332134659526 | HSD3BP4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); GAPDHP27 (6.1 kb); HSD3BP3 (20 kb); GAPDHP33 (30 kb); GAPDHP32 (31 kb); LINC00622 (32 kb); HSD3BP5 (36 kb) | NA | GAPDHP32 | HMGCS2 | HSD3BP4 | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.00614606 | 0.0234242 | 0.100697240042332 | 0.00471141 | 0.0209038 | 0.0852793136458831 | -0.0049064 | 0.0467385 | 0.0379172890574256 | 0.0350778 | 0.0257599 | 0.760865759426558 | 0.0577445 | 0.0275086 | 1.4438326340936 | -0.0211438 | 0.0533994 | 0.159732644038866 | 7.29168E-4 | 0.0192276 | 0.0133388682049047 | -0.00557752 | 0.0217049 | 0.0984103747785113 | 0.00442983 | 0.0374592 | 0.0429211785644239 | -0.00637468 | 0.0142269 | 0.184355850868035 | -0.00166445 | 0.0175447 | 0.0341311368511323 | -0.0166556 | 0.0231668 | 0.325897011008821 | -0.0107576 | 0.0139792 | 0.354998472939692 | -0.00260645 | 0.0146479 | 0.0661231354770873 | -0.0254319 | 0.0240253 | 0.537891128786659 | -0.00805992 | 0.0136304 | 0.256249636936715 | 0.0135016 | 0.0166055 | 0.38072818596672 | -0.0341312 | 0.0220457 | 0.915159294009573 | 0.00193324 | 0.00814174 | 0.0902787349612924 | -0.00460679 | 0.010408 | 0.181747046326724 | 0.00963629 | 0.0129173 | 0.341351469357849 | 0.119064 | 0.0385865 | 2.68629936140012 | 0.149839 | 0.0476294 | 2.77133278106764 | 0.0652629 | 0.0658801 | 0.491851550163147 | |||
rs4659197:120091616:G:A | 1 | 120091616 | 1p12 | A | G | 0.922 | OHP17 MEN | 1358 | 2.61931852726217 | 0.682353092783505 | HSD3BP3 (3.1 kb, near gene/Downstream gene/MODIFIER); GAPDHP27 (9.8 kb); GAPDHP32 (14 kb); HSD3BP4 (15 kb); HSD3B1 (34 kb); GAPDHP33 (47 kb); LINC00622 (49 kb) | NA | FCGR1B | GAPDHP58 | PHGDH | RP11-418J17.1 | WARS2 | ZNF697 | KIAA2026 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.0203853 | 0.0187091 | 0.559061021879902 | 0.024728 | 0.0167642 | 0.852530826437812 | 0.00923123 | 0.0375972 | 0.0936401728647476 | 0.0608385 | 0.0205458 | 2.50860048216445 | 0.0670227 | 0.0220391 | 2.61931852726217 | 0.0443917 | 0.04218 | 0.533194637924713 | 0.00368572 | 0.0153611 | 0.0912994958463298 | -0.0149331 | 0.0174161 | 0.407425784061182 | 0.035782 | 0.0295784 | 0.644385673909034 | -0.0108757 | 0.01112 | 0.48404936710195 | -0.0197913 | 0.0137941 | 0.820006096973862 | -0.00557484 | 0.0179828 | 0.121160642259066 | -0.00349099 | 0.0109666 | 0.124802678985218 | -0.00272667 | 0.0115042 | 0.0900991324026979 | -0.00200956 | 0.0187422 | 0.0387621551571604 | 0.0127108 | 0.0106561 | 0.632757793273696 | 0.00515862 | 0.0130134 | 0.160016931230438 | 0.0212356 | 0.0172322 | 0.661882308523142 | 0.00208624 | 0.00638202 | 0.12857360518914 | -0.00398327 | 0.00820783 | 0.202411878404045 | 0.00899343 | 0.0100504 | 0.430770098682188 | 0.0653441 | 0.0307878 | 1.46944814083251 | 0.0991016 | 0.0381824 | 2.01990250358255 | 0.00260725 | 0.0519695 | 0.0177274097922962 | ||
rs74503651:120075457:C:T | 1 | 120075457 | 1p12 | T | C | 0.878 | ALDO MEN | 1307 | 2.60751760955897 | 0.0176025248661056 | GAPDHP32 (0.92 kb, near gene/Downstream gene/MODIFIER); HSD3BP3 (5.7 kb); HSD3B1 (18 kb); GAPDHP27 (26 kb); HSD3BP4 (31 kb); GAPDHP58 (36 kb) | NA | FAM72B | HSD3B2 | HSD3BP2 | REG4 | RP11-418J17.1 | RP5-871G17.5 | WARS2 | FGF9 | SYT5 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | -0.0954643 | 0.0692479 | 0.774248893352829 | -0.148741 | 0.061044 | 1.82526004925553 | 0.0517171 | 0.144931 | 0.141937657985591 | -0.0654963 | 0.0762071 | 0.408722752100431 | -0.0660195 | 0.0806167 | 0.384080444668483 | -0.0645916 | 0.161035 | 0.162118133392874 | -0.0409292 | 0.0568596 | 0.326323996165578 | -0.0905049 | 0.063475 | 0.812067740483154 | 0.0632114 | 0.112941 | 0.239674791338284 | 0.0415237 | 0.0410653 | 0.505931716666166 | 0.0172248 | 0.0499849 | 0.136442803077255 | 0.0762439 | 0.0679697 | 0.581738493203107 | 0.0319589 | 0.0404887 | 0.366612350910907 | -0.00919453 | 0.0416645 | 0.0833660539526628 | 0.0829702 | 0.0710199 | 0.614932013101014 | 0.0276354 | 0.0392263 | 0.317752908007045 | 0.013086 | 0.047218 | 0.106974888878911 | 0.0228822 | 0.0645142 | 0.140966234288407 | 0.0293371 | 0.0235747 | 0.670923637880816 | -0.0135942 | 0.0297385 | 0.188705231273384 | 0.0860514 | 0.0380299 | 1.62612845731841 | 0.339321 | 0.112917 | 2.57045442231611 | 0.420523 | 0.138647 | 2.60751760955897 | 0.174726 | 0.194634 | 0.432206939712334 | ||
rs10802107:120068932:C:A | 1 | 120068932 | 1p12 | A | C | 0.988 | E2 WOMEN | 2607 | 2.53299455378155 | 0.243560606060606 | 2.1432 | GAPDHP32 (7.4 kb); HSD3B1 (11 kb); HSD3BP3 (12 kb); GAPDHP58 (29 kb); GAPDHP27 (32 kb); HSD3BP4 (38 kb) | NA | GAPDHP58 | PHGDH | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.00287374 | 0.0196207 | 0.053759529746181 | 0.0101349 | 0.0180266 | 0.241042713338769 | -0.0256435 | 0.0376242 | 0.304947576494557 | 0.0130434 | 0.0215847 | 0.26303092536014 | 0.0308955 | 0.0237483 | 0.713330252869696 | -0.00960894 | 0.0423883 | 0.0857986332850637 | 0.00849887 | 0.0161042 | 0.223490587013023 | -0.00575285 | 0.0187191 | 0.119962545058656 | 0.0378571 | 0.029699 | 0.692852821379344 | -0.0062468 | 0.0117484 | 0.225539970725499 | -0.0158024 | 0.0146387 | 0.552273105403353 | 0.00552312 | 0.0188987 | 0.113455132397025 | 0.00847204 | 0.0115651 | 0.333641165113506 | -0.00515568 | 0.0122174 | 0.171965576869521 | 0.0218998 | 0.0194187 | 0.586001567325658 | 0.0161966 | 0.011307 | 0.81811355616171 | -0.0132078 | 0.0137847 | 0.471100003677497 | 0.0538838 | 0.0181128 | 2.53299455378155 | 0.0109053 | 0.00673603 | 0.976920469276128 | 0.0145881 | 0.00871941 | 1.02541232388932 | 0.00668112 | 0.0105293 | 0.279231457392125 | 0.0238174 | 0.0324169 | 0.334798126830073 | 0.0120146 | 0.0413407 | 0.112728247474023 | 0.0393275 | 0.0521923 | 0.345436521051257 | ||
rs111447088:74677767:C:T | candidate | 15 | 74677767 | 15q24.1 | T | C | 0.921 | E2 WOMEN | 2607 | 2.52950571620941 | 0.0310048139624089 | 0.0630236 | CYP11A1 (18 kb); SEMA7A (24 kb); CCDC33 (49 kb); UBL7 (61 kb) | NA | ARID3B | C15orf59 | COMMD4 | CSK | CTD-2311M21.2 | CYP11A1 | CYP1A1 | EDC3 | IMP3 | LOXL1 | MAN2C1 | MPI | NEO1 | PPCDC | RP11-10O17.1 | SEMA7A | SNUPN | UBL7 | ULK3 | BCAT1 | PSTPIP1 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | positive regulation of axon extension:SEMA7A | fat-soluble vitamin metabolic process:CYP11A1 | negative regulation of endocytosis:CSK | steroid biosynthetic process:CYP11A1 | cellular senescence:ULK3 | positive regulation of axonogenesis:SEMA7A | regulation of axon extension:SEMA7A | protein autophosphorylation:CSK,ULK3 | Fc receptor mediated stimulatory signaling pathway:CSK | bone remodeling:CSK | regulation of hormone levels:CYP11A1 | post-Golgi vesicle-mediated transport:CSK | regulation of extent of cell growth:SEMA7A | regulation of ERK1 and ERK2 cascade:CSK,SEMA7A | cell aging:ULK3 | axon extension:SEMA7A | ERK1 and ERK2 cascade:CSK,SEMA7A | aging:ULK3 | vitamin metabolic process:CYP11A1 | positive regulation of cell morphogenesis involved in differentiation:SEMA7A | immune response-regulating cell surface receptor signaling pathway:CSK | neuron projection extension:SEMA7A | regulation of cell size:SEMA7A | regulation of axonogenesis:SEMA7A | regulation of cell growth:SEMA7A | positive regulation of cell growth:SEMA7A | tissue remodeling:CSK | positive regulation of developmental growth:SEMA7A | axonogenesis:NEO1,SEMA7A | regulation of vesicle-mediated transport:CSK | positive regulation of ERK1 and ERK2 cascade:SEMA7A | developmental cell growth:SEMA7A | axon development:NEO1,SEMA7A | 0.0145363 | 0.0506702 | 0.111128882699035 | -0.0407813 | 0.0448362 | 0.439835028656846 | 0.0404623 | 0.100559 | 0.162784786099361 | 0.0193437 | 0.0557462 | 0.137492951449532 | 0.0129809 | 0.0591144 | 0.0829021938714388 | 0.0596282 | 0.117441 | 0.213389817488432 | -0.00699397 | 0.041592 | 0.0622429608273347 | -0.0242854 | 0.0465643 | 0.220350848318401 | 0.0496916 | 0.0823691 | 0.262397118965892 | 0.0617356 | 0.0306882 | 1.35407691051249 | 0.0573797 | 0.0380206 | 0.88188414368544 | 0.0676228 | 0.0496619 | 0.761191413293702 | 0.0358953 | 0.0301196 | 0.63198102814762 | 0.0238703 | 0.0316236 | 0.346445011202992 | 0.0732296 | 0.0518718 | 0.801271452744495 | 0.0769748 | 0.0292781 | 2.06745724074571 | 0.0421165 | 0.0360749 | 0.614357983470767 | 0.138465 | 0.046583 | 2.52950571620941 | -0.0150782 | 0.0175854 | 0.4075911625619 | -0.0321686 | 0.0225152 | 0.815092894766224 | 0.00300536 | 0.0278037 | 0.0390903929792887 | 0.0463235 | 0.0847106 | 0.233180564023049 | -0.0355043 | 0.105588 | 0.132688697668122 | 0.189442 | 0.141928 | 0.73898469011383 |
rs112616375:119951508:C:CAGAA | 1 | 119951508 | 1p12 | CAGAA | C | 0.977 | OHP17 MEN | 1358 | 2.52010236344829 | 0.633732695139912 | HSD3B2 (6 kb); HAO2 (15 kb); HSD3BP2 (30 kb); HAO2-IT1 (39 kb) | NA | HAO2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0179032 | 0.0172871 | 0.522165640455858 | 0.0187959 | 0.0156391 | 0.638971374186328 | 0.0405021 | 0.0341561 | 0.627633047245777 | 0.0370451 | 0.0190065 | 1.28885019140788 | 0.0610794 | 0.0205575 | 2.52010236344829 | -0.00764838 | 0.0383128 | 0.0747771491950699 | -0.00466611 | 0.014193 | 0.129379586759168 | -0.00541976 | 0.0162465 | 0.131510148585058 | -0.00418952 | 0.0268736 | 0.0574170735618272 | -0.0288729 | 0.010434 | 2.24764957271277 | -0.022588 | 0.0130211 | 1.08201634713585 | -0.0374895 | 0.0167423 | 1.59959845058313 | -0.00159047 | 0.0102635 | 0.0570746936852402 | 0.0157046 | 0.0108563 | 0.829703072966422 | -0.0248261 | 0.0173353 | 0.817836523434112 | 0.00592521 | 0.0100362 | 0.255759448385033 | 0.00296274 | 0.0123188 | 0.0915482246873276 | -0.00539436 | 0.0160082 | 0.133041943008688 | -0.00185564 | 0.00598119 | 0.121263982418613 | -0.00501851 | 0.0077366 | 0.286886793359975 | 0.00213892 | 0.00934883 | 0.0866991298001095 | -0.0523091 | 0.0285782 | 1.17171076504845 | -0.038188 | 0.0359262 | 0.540610528185143 | -0.0780075 | 0.0470767 | 1.00888960385508 | |||
rs7172632:74675658:T:G | 15 | 74675658 | 15q24.1 | G | T | 0.883 | ALDO WOMEN | 686 | 2.38188911826283 | 0.0694734548104956 | CYP11A1 (16 kb); SEMA7A (26 kb); CCDC33 (47 kb); UBL7 (63 kb) | NA | ARID3B | CSK | CYP11A1 | CYP1A1 | LOXL1 | MAN2C1 | SCAMP5 | SEMA7A | UBL7 | ULK3 | BCAT1 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | positive regulation of axon extension:SEMA7A | fat-soluble vitamin metabolic process:CYP11A1 | steroid biosynthetic process:CYP11A1 | positive regulation of axonogenesis:SEMA7A | regulation of axon extension:SEMA7A | regulation of hormone levels:CYP11A1 | regulation of extent of cell growth:SEMA7A | regulation of ERK1 and ERK2 cascade:SEMA7A | axon extension:SEMA7A | ERK1 and ERK2 cascade:SEMA7A | vitamin metabolic process:CYP11A1 | positive regulation of cell morphogenesis involved in differentiation:SEMA7A | neuron projection extension:SEMA7A | regulation of cell size:SEMA7A | regulation of axonogenesis:SEMA7A | regulation of cell growth:SEMA7A | positive regulation of cell growth:SEMA7A | positive regulation of developmental growth:SEMA7A | axonogenesis:SEMA7A | positive regulation of ERK1 and ERK2 cascade:SEMA7A | developmental cell growth:SEMA7A | axon development:SEMA7A | 0.0138992 | 0.0362452 | 0.154031142553932 | -0.0202646 | 0.0327402 | 0.270793079304113 | 0.0796343 | 0.0713207 | 0.578100064156831 | 0.0304543 | 0.0398724 | 0.351564847935342 | 0.0196107 | 0.0431569 | 0.187347298250576 | 0.0738373 | 0.0807693 | 0.442569798955678 | -0.0203737 | 0.0297488 | 0.306704042790052 | -0.0210134 | 0.0339952 | 0.270354187760725 | -0.00165016 | 0.0566866 | 0.0102010182556879 | 0.0353702 | 0.0216259 | 0.991680933270165 | 0.0387971 | 0.0266562 | 0.837011661412672 | 0.0337482 | 0.0352419 | 0.470753207206564 | 0.0401974 | 0.0212931 | 1.22877494979754 | 0.0256725 | 0.0222278 | 0.605367984314778 | 0.0529269 | 0.0364609 | 0.833833444019025 | 0.0455665 | 0.0206805 | 1.55956638439156 | 0.0318944 | 0.0251275 | 0.68965936325582 | 0.0801263 | 0.0334767 | 1.7775800945836 | 0.00192513 | 0.012421 | 0.0570845995855623 | -0.00347614 | 0.015888 | 0.0825927035688425 | 0.00848025 | 0.0197062 | 0.175904769621444 | 0.0625629 | 0.0606041 | 0.51992547342538 | -0.0672657 | 0.0762169 | 0.422923161063138 | 0.286034 | 0.0994485 | 2.38188911826283 | ||
rs41427946:120109260:C:T | 1 | 120109260 | 1p12 | T | C | 1 | ALDO MEN | 1307 | 2.37172144586639 | 0.0416985462892119 | HSD3BP4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); GAPDHP27 (6.9 kb); HSD3BP3 (21 kb); GAPDHP33 (30 kb); LINC00622 (31 kb); GAPDHP32 (32 kb); HSD3BP5 (35 kb) | NA | PHGDH | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.0158546 | 0.0445309 | 0.141553039189747 | -0.0677031 | 0.0376896 | 1.13867950347154 | 0.122858 | 0.0957693 | 0.699965679182894 | -0.057446 | 0.0489776 | 0.618037022344002 | -0.057701 | 0.0497121 | 0.609123155820452 | -0.0829841 | 0.114521 | 0.328897539065737 | -0.0577117 | 0.0365313 | 0.941923373854293 | -0.0500392 | 0.0391572 | 0.695720638929059 | -0.0988233 | 0.080271 | 0.660179019053645 | 0.0124353 | 0.0247 | 0.211374940339662 | 0.00261894 | 0.0304191 | 0.0308679629560271 | 0.0280942 | 0.0401704 | 0.314871183241445 | 0.00742526 | 0.0246897 | 0.117127824116909 | 0.0146057 | 0.0253767 | 0.24801689343372 | -0.0209935 | 0.0441 | 0.197881287813123 | -0.0187616 | 0.0236908 | 0.36815155160066 | 0.00213031 | 0.028545 | 0.0266370442054305 | -0.056114 | 0.0395205 | 0.80786482620079 | -0.0118235 | 0.0142695 | 0.390042940941965 | -0.00838382 | 0.0181351 | 0.191203833154757 | -0.01617 | 0.0227425 | 0.321406058472998 | -0.194152 | 0.0729664 | 2.10473716666437 | -0.245419 | 0.0856877 | 2.37172144586639 | -0.0323391 | 0.140222 | 0.0874203426473169 | |||
rs4659174:119956344:G:A | 1 | 119956344 | 1p12 | A | G | 0.971 | ALDO WOMEN | 686 | 2.35813837033221 | 0.116784985422741 | HSD3B2 (1.2 kb, near gene/Upstream gene/MODIFIER); HAO2 (20 kb); HSD3BP2 (25 kb); HAO2-IT1 (43 kb); GAPDHP23 (48 kb) | NA | LOC644242 | PHGDH | RP11-114O18.1 | RP11-439A17.9 | RP5-871G17.5 | WARS2 | ZNF697 | PLA2G4C | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0385052 | 0.0273195 | 0.798999111096605 | 0.00436698 | 0.0246162 | 0.0658961279388384 | 0.102982 | 0.0538857 | 1.25189961625892 | 0.0554905 | 0.0300462 | 1.18766430495329 | 0.0783522 | 0.0323764 | 1.80549120824222 | 0.0134027 | 0.0611214 | 0.0827592439462921 | -0.0411609 | 0.0224171 | 1.17730768268415 | -0.0424569 | 0.025534 | 1.01505974072642 | -0.0382584 | 0.0428491 | 0.429183960764635 | 0.0249603 | 0.0161192 | 0.915405850232498 | 0.00516434 | 0.019951 | 0.0992233527069593 | 0.0493014 | 0.0261177 | 1.22862273618353 | 0.0267225 | 0.015921 | 1.03030272615989 | 0.0326507 | 0.0166541 | 1.30159407606892 | 0.0109508 | 0.0271948 | 0.162927592915921 | 0.0064803 | 0.0154715 | 0.170488458923407 | 0.0150544 | 0.0187956 | 0.373494365229201 | -0.0095345 | 0.0250869 | 0.152487800832084 | 0.0137587 | 0.00925744 | 0.862592079964339 | -0.00307753 | 0.011889 | 0.0992249900125222 | 0.0350608 | 0.014592 | 1.78853237556086 | -0.0967303 | 0.0449359 | 1.50213085850291 | -0.0335882 | 0.0564224 | 0.258260019538283 | -0.211773 | 0.0740807 | 2.35813837033221 | ||
rs75633256:119935133:C:A | 1 | 119935133 | 1p12 | A | C | 0.891 | ALDO ALL | 1993 | 2.2476956628689 | 0.0227167586552935 | HAO2 (0 kb, nc-exon/Non coding transcript exon/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); HAO2-IT1 (22 kb); HSD3B2 (22 kb); HSD3BP2 (46 kb) | NA | LOC644242 | RP11-114O18.1 | ZNF697 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.031965 | 0.0590395 | 0.230417392743363 | -0.00648725 | 0.0523351 | 0.0450978641373603 | 0.178036 | 0.11653 | 0.897706965390312 | 0.00360374 | 0.0649591 | 0.0196493317308901 | 0.0649714 | 0.0689593 | 0.460580116248507 | -0.104067 | 0.136251 | 0.35139997346097 | -0.0742503 | 0.0484371 | 0.901536258190643 | -0.053761 | 0.0543217 | 0.491459507965882 | -0.102199 | 0.0955311 | 0.545040867005196 | 0.0352501 | 0.0354227 | 0.495289967603248 | -0.0211266 | 0.0436434 | 0.201808748204626 | 0.109202 | 0.0576782 | 1.23419142088247 | 0.0400132 | 0.0348287 | 0.600992938839587 | 0.0361331 | 0.0363254 | 0.495015628022035 | 0.0572331 | 0.0602516 | 0.465768224212476 | 0.00575586 | 0.0337084 | 0.0632767006809837 | 0.0426992 | 0.0412757 | 0.521566265866866 | -0.0480016 | 0.0540509 | 0.42655281664864 | 0.016621 | 0.020315 | 0.383770323292642 | -0.00716304 | 0.0259142 | 0.106664976849547 | 0.046286 | 0.0322994 | 0.818588063778063 | -0.268495 | 0.0969207 | 2.2476956628689 | -0.239677 | 0.120065 | 1.33612953502429 | -0.332346 | 0.164363 | 1.36087225062948 | |||
rs150280453:120103235:C:G | 1 | 120103235 | 1p12 | G | C | 0.93 | E2 ALL | 6798 | 2.23628082725527 | 0.0107458075904678 | 0.559616 | GAPDHP27 (0.84 kb, near gene/Upstream gene/MODIFIER); HSD3BP4 (3.5 kb, near gene/Upstream gene/MODIFIER); HSD3BP3 (15 kb); GAPDHP32 (26 kb); GAPDHP33 (36 kb); LINC00622 (37 kb); HSD3BP5 (41 kb); HSD3B1 (46 kb) | NA | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | 0.054415 | 0.0805615 | 0.301492330998765 | 0.103723 | 0.0805938 | 0.702635676113051 | -0.0177669 | 0.0886418 | 0.0751208713607011 | 0.0959298 | 0.106262 | 0.435560017052219 | -0.160036 | 0.154957 | 0.519903906399463 | 0.0744962 | 0.0661141 | 0.585085118683244 | 0.0470277 | 0.0837244 | 0.240773471594911 | 0.0931298 | 0.108716 | 0.406784843989889 | 0.126687 | 0.0509349 | 1.89028312179711 | 0.119655 | 0.0803282 | 0.865392637521278 | 0.056948 | 0.0496578 | 0.599529361694234 | 0.0285171 | 0.0786134 | 0.144607456296371 | 0.135697 | 0.0491895 | 2.23628082725527 | -6.47162E-4 | 0.0290705 | 0.0077828261110158 | 0.0255406 | 0.0442193 | 0.249074481701267 | -0.0799381 | 0.13076 | 0.266764204005438 | 0.0530922 | 0.18172 | 0.113392538624793 | -0.227864 | 0.187331 | 0.649242372521891 | |||||||||||||||||||||
rs200594574:119961237:TCTTTTATTATTATTA:T | 1 | 119961237 | 1p12 | T | TCTTTTATTATTATTA | 0.857 | PROG WOMEN | 1261 | 2.23290724111967 | 0.0501806106264869 | 0.0633567 | HSD3B2 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); HSD3BP2 (20 kb); HAO2 (24 kb); GAPDHP23 (43 kb); HAO2-IT1 (48 kb); HSD3BP1 (49 kb) | NA | RP5-871G17.5 | WARS2 | ZNF697 | PLA2G4C | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0640085 | 0.0407511 | 0.934043288649907 | -0.0416321 | 0.036947 | 0.584984894951903 | 0.219362 | 0.0795908 | 2.23290724111967 | 0.0904342 | 0.0448165 | 1.35918973680615 | 0.0711674 | 0.0486834 | 0.841586240054582 | 0.119804 | 0.0900028 | 0.736172268789173 | 0.0030642 | 0.0334695 | 0.0328907516994355 | -0.00983103 | 0.0383803 | 0.0980645982485432 | 0.0224243 | 0.0632031 | 0.14095361707259 | 0.00636971 | 0.0245197 | 0.0996142981402058 | -0.0106162 | 0.0309517 | 0.135724522330702 | 0.0256843 | 0.0388194 | 0.293962775571364 | 0.0300958 | 0.0241348 | 0.672841398207921 | 0.0183378 | 0.0258281 | 0.320837485685951 | 0.035384 | 0.0403347 | 0.419822288589145 | -0.0235785 | 0.0236546 | 0.496386338227498 | 2.67999E-4 | 0.0293428 | 0.00317629081183408 | -0.039031 | 0.0372092 | 0.531363236400254 | 0.0378849 | 0.0140609 | 2.15163412108989 | 0.0203655 | 0.0183887 | 0.571738825221292 | 0.0589908 | 0.0216738 | 2.18752449921489 | -0.091062 | 0.0671742 | 0.756024886898425 | -0.0313186 | 0.0849132 | 0.147328519837663 | -0.191489 | 0.109622 | 1.09087259338395 | |
rs58712424:74635105:A:G | 15 | 74635105 | 15q24.1 | G | A | 0.849 | PROG ALL | 2070 | 2.15187002500739 | 0.0391417826086957 | CYP11A1 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); CCDC33 (6.3 kb); SEMA7A (67 kb); UBL7 (100 kb) | NA | COMMD4 | CSK | CTD-2311M21.2 | CYP11A1 | GOLGA6A | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | fat-soluble vitamin metabolic process:CYP11A1 | steroid biosynthetic process:CYP11A1 | regulation of hormone levels:CYP11A1 | vitamin metabolic process:CYP11A1 | 0.127955 | 0.0474396 | 2.15187002500739 | -5.0926E-4 | 0.0431184 | 0.00411132160361324 | 0.213114 | 0.0937415 | 1.6382532820241 | 0.0563761 | 0.0522696 | 0.551435892317178 | 0.0477857 | 0.0568184 | 0.397416998871502 | 0.0709981 | 0.105011 | 0.301729773252083 | -0.00104835 | 0.0390082 | 0.0094116529851733 | -0.035873 | 0.0447605 | 0.373643205721184 | 0.0612855 | 0.0736443 | 0.391917044374134 | -0.0125597 | 0.0258607 | 0.202592565458218 | 0.02424 | 0.0327229 | 0.338343461461461 | -0.0593227 | 0.040799 | 0.835825658083351 | -0.0267115 | 0.0259565 | 0.517930032788216 | -0.0213458 | 0.0274282 | 0.360088389182951 | -0.0521886 | 0.0436622 | 0.634553200159293 | 0.0133029 | 0.0248358 | 0.227523530085974 | 0.00557436 | 0.0306606 | 0.0676617198027377 | 0.0229138 | 0.0395228 | 0.250204958187028 | -0.0105155 | 0.0149657 | 0.31670074776034 | -0.0124436 | 0.0196467 | 0.278607398612555 | -0.00866834 | 0.0229694 | 0.151264816234721 | -0.0836122 | 0.0782706 | 0.544333044817599 | -0.0799749 | 0.0988335 | 0.3782485032881 | -0.084889 | 0.128248 | 0.293922612689924 | |||
rs187677131:119942426:G:A | 1 | 119942426 | 1p12 | A | G | 0.853 | OHP17 MEN | 1358 | 2.14778969423982 | 0.0414388217967599 | HAO2 (5.7 kb); HSD3B2 (15 kb); HAO2-IT1 (29 kb); HSD3BP2 (39 kb) | NA | HSD3BP5 | PHGDH | RP11-418J17.1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.00340111 | 0.0469595 | 0.0258246357330065 | 8.79868E-4 | 0.0411428 | 0.00747254945517361 | -0.0345036 | 0.0998039 | 0.13694017590397 | -0.0785177 | 0.0516354 | 0.89106645588549 | -0.145784 | 0.0540843 | 2.14778969423982 | 0.0697603 | 0.110974 | 0.275888046038788 | -0.0352916 | 0.0385378 | 0.44382177348845 | -0.0543751 | 0.0426942 | 0.692448341724816 | 0.00669229 | 0.0778603 | 0.0308036202696935 | 0.0321899 | 0.0297897 | 0.55301416953375 | -8.11801E-4 | 0.0365654 | 0.0077616035513393 | 0.0825071 | 0.0488458 | 1.04003421084856 | 0.0209736 | 0.0289477 | 0.329069837345274 | 0.0191217 | 0.0303066 | 0.277301102660071 | 0.0503026 | 0.0504884 | 0.496081361871641 | 0.00150642 | 0.0283894 | 0.0187786752344196 | 0.0241801 | 0.0348798 | 0.31143958901735 | -0.0151077 | 0.0457729 | 0.129973193224526 | -0.00742313 | 0.016971 | 0.179260112730118 | -0.00288834 | 0.021527 | 0.0490191960608954 | -0.0184195 | 0.0272128 | 0.302343549465424 | 0.0623509 | 0.0772822 | 0.376873777140697 | 0.0585311 | 0.0941139 | 0.272373356383521 | 0.0676861 | 0.135649 | 0.209042446654696 | |||
rs113687116:119941899:T:A | 1 | 119941899 | 1p12 | A | T | 0.813 | ALDO ALL | 1993 | 2.10173842288645 | 0.0157345208228801 | HAO2 (5.1 kb); HSD3B2 (16 kb); HAO2-IT1 (29 kb); HSD3BP2 (40 kb) | NA | FAM46C | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | -0.0205421 | 0.0768272 | 0.102811272531644 | -0.0357192 | 0.0754165 | 0.196650105500745 | -0.0437451 | 0.13636 | 0.125891174671797 | 0.059104 | 0.0845158 | 0.314770762527221 | 0.0394185 | 0.099407 | 0.160037020366739 | 0.0752936 | 0.1509 | 0.209039635496126 | 0.0535086 | 0.0630519 | 0.402109644758804 | 0.104477 | 0.0782622 | 0.73965428183309 | -0.0139327 | 0.105862 | 0.0480178334057323 | 0.0772407 | 0.042458 | 1.16192703830564 | 0.0993794 | 0.0564059 | 1.10739011761347 | 0.0617914 | 0.0638248 | 0.477589676695986 | 0.00428055 | 0.0425617 | 0.0362641022731353 | -0.0305993 | 0.0475046 | 0.284424480049007 | 0.0302163 | 0.0666671 | 0.186836828856531 | -0.0298256 | 0.0400535 | 0.34057253733227 | -0.0483535 | 0.0527531 | 0.444479933702609 | -0.0184317 | 0.058823 | 0.122616558563758 | 0.00773167 | 0.024544 | 0.123348081929039 | 0.03918 | 0.0339258 | 0.6052997217234 | -0.0229038 | 0.0357296 | 0.282744021681749 | 0.333262 | 0.125357 | 2.10173842288645 | 0.308946 | 0.171934 | 1.13915132386324 | 0.367436 | 0.181998 | 1.35765420973955 | |||
rs61808475:120023111:A:G | 1 | 120023111 | 1p12 | G | A | 0.825 | OHP17 ALL | 2070 | 2.07680573633219 | 0.929009903381642 | HSD3BP1 (6.7 kb); GAPDHP58 (15 kb); GAPDHP23 (17 kb); HSD3B1 (27 kb); HSD3BP2 (34 kb) | NA | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0251467 | 0.0360565 | 0.313707012630417 | -0.0044902 | 0.0331237 | 0.0495426488024918 | 0.0714541 | 0.0712451 | 0.500459997694269 | 0.10452 | 0.0396069 | 2.07680573633219 | 0.0943835 | 0.0435843 | 1.51540550994877 | 0.106239 | 0.0779442 | 0.761168860156735 | 0.0241352 | 0.0295949 | 0.382089015476944 | 0.0102563 | 0.0343924 | 0.116006016947956 | 0.0358064 | 0.0547267 | 0.28975905209434 | -0.0324266 | 0.0221059 | 0.846456463966042 | -0.0112765 | 0.0275066 | 0.166318161510783 | -0.053355 | 0.0356402 | 0.871658899617022 | 7.41063E-4 | 0.0216462 | 0.0120255489822781 | 0.00779744 | 0.0229183 | 0.134490359872781 | 0.0169827 | 0.036334 | 0.193677546513504 | 0.0215441 | 0.0213409 | 0.504836010067834 | -0.00595421 | 0.0258987 | 0.0871585721600495 | 0.0621497 | 0.0344022 | 1.14977601359875 | 0.00121015 | 0.012628 | 0.0344902144671541 | -0.0125301 | 0.0162994 | 0.354534499867781 | 0.0194329 | 0.0198175 | 0.485727254752635 | -0.0198812 | 0.0593942 | 0.132024855307933 | 0.0492777 | 0.0756909 | 0.288078098624511 | -0.12395 | 0.0957331 | 0.708087511683787 | |||
rs75938737:120031042:C:T | 1 | 120031042 | 1p12 | T | C | 0.963 | TESTO MEN | 4291 | 2.02088203587031 | 0.0562879282218597 | 0.605825 | GAPDHP58 (7.4 kb); HSD3BP1 (15 kb); HSD3B1 (19 kb); GAPDHP23 (25 kb); HSD3BP2 (42 kb); GAPDHP32 (45 kb) | NA | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | -0.0875436 | 0.039681 | 1.56097220893907 | -0.0105793 | 0.0357158 | 0.115138392792544 | -0.0991651 | 0.0758025 | 0.71941252502124 | -0.0507246 | 0.0436937 | 0.609398686411286 | -0.00633555 | 0.0470773 | 0.0491650767144678 | -0.116541 | 0.089245 | 0.716637702928702 | -0.00450041 | 0.0326095 | 0.0504899689952761 | 0.0241667 | 0.0370802 | 0.288464395345717 | -0.0451223 | 0.0626506 | 0.326402260944891 | -0.027122 | 0.022165 | 0.6554348289962 | -0.0148517 | 0.0275627 | 0.229146516175667 | -0.0346626 | 0.0357595 | 0.478359890059266 | 0.0111355 | 0.0221379 | 0.211152425723541 | 0.0597472 | 0.0230469 | 2.02088203587031 | -0.0110457 | 0.0379616 | 0.112903940691612 | 0.00325836 | 0.0211448 | 0.0567365427271819 | 0.0213026 | 0.025836 | 0.387600823101303 | -0.0150871 | 0.0342125 | 0.180966331110438 | -0.00438162 | 0.0128004 | 0.135415949359954 | 0.00847494 | 0.0165305 | 0.215972864381456 | -0.020059 | 0.0200638 | 0.49835476721836 | -0.0669914 | 0.0666166 | 0.502078417312015 | -0.0533379 | 0.0828994 | 0.283934022254778 | -0.105779 | 0.1121 | 0.461298107913621 | ||
rs116103231:119948936:G:A | 1 | 119948936 | 1p12 | A | G | 0.84 | DHEAS WOMEN | 3358 | 1.94283998039171 | 0.0220043031566409 | 0.202037 | HSD3B2 (8.6 kb); HAO2 (12 kb); HSD3BP2 (33 kb); HAO2-IT1 (36 kb) | NA | PHGDH | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0463199 | 0.0647009 | 0.324103480338508 | 0.119292 | 0.0553347 | 1.50482767771973 | -0.0488504 | 0.138793 | 0.139743468725603 | 0.0784558 | 0.0711711 | 0.567935496307783 | 0.159134 | 0.0729322 | 1.53335032267999 | -0.146789 | 0.161314 | 0.439910363789343 | 0.0865075 | 0.0530808 | 0.985857638454994 | 0.120483 | 0.057461 | 1.44131182499047 | -0.0145818 | 0.113213 | 0.0469398971474827 | -0.0899899 | 0.0362675 | 1.88302054218172 | -0.0403743 | 0.0443953 | 0.439945046258929 | -0.150568 | 0.0595134 | 1.94283998039171 | -0.0294979 | 0.0362385 | 0.38127326001955 | -0.0304646 | 0.0371647 | 0.384705565143217 | -0.0309246 | 0.0645867 | 0.199230699571693 | -0.0147472 | 0.0345589 | 0.174198824183798 | -0.0574815 | 0.0417819 | 0.772372921747923 | 0.0424833 | 0.0571041 | 0.34017979246948 | 0.0275015 | 0.0209391 | 0.723432507385317 | 0.0297038 | 0.0264903 | 0.58144019807968 | 0.0260755 | 0.0336217 | 0.358514982693814 | 0.0839426 | 0.109625 | 0.352685505134096 | 0.0740195 | 0.131404 | 0.241596090282812 | 0.1136 | 0.199515 | 0.244668733442496 | ||
rs79346361:120001155:G:A | 1 | 120001155 | 1p12 | A | G | 0.86 | TESTO MEN | 4291 | 1.94079264503285 | 0.024831740852948 | 0.205404 | GAPDHP23 (3.5 kb, near gene/Downstream gene/MODIFIER); HSD3BP1 (8.7 kb); HSD3BP2 (12 kb); HSD3B2 (35 kb); GAPDHP58 (37 kb); HSD3B1 (49 kb) | NA | NOTCH2 | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | -0.107059 | 0.0610933 | 1.09769135978526 | -0.0227802 | 0.0538581 | 0.172381337746018 | -0.0751385 | 0.118362 | 0.27938843866923 | -0.0163882 | 0.0672632 | 0.0928407967113855 | 0.0422114 | 0.0709844 | 0.257925619706542 | -0.136733 | 0.142812 | 0.470214295862755 | 0.0392274 | 0.0501769 | 0.362078192370475 | 0.0886795 | 0.0558742 | 0.948006725688885 | -0.0631489 | 0.100208 | 0.276724158180891 | -0.0732127 | 0.0352932 | 1.41975035840307 | -0.0319785 | 0.0439379 | 0.330934283075159 | -0.117449 | 0.0568077 | 1.41241810807538 | 0.0063109 | 0.0349963 | 0.0670734049271642 | 0.0925461 | 0.0366036 | 1.94079264503285 | -0.0735138 | 0.0604184 | 0.650332074492949 | 0.0331425 | 0.0333789 | 0.493831980958319 | 0.057748 | 0.041268 | 0.79126043725614 | -0.00404977 | 0.0533431 | 0.0271110740764837 | -0.017012 | 0.0203218 | 0.395212535982208 | 0.0130765 | 0.0261618 | 0.209578304545955 | -0.0571446 | 0.0319329 | 1.1335318902281 | -0.0504073 | 0.102153 | 0.206383507555199 | -0.0794414 | 0.123687 | 0.283324854966005 | 0.00830169 | 0.181756 | 0.0161108706406092 | ||
rs415630:120112792:G:A | 1 | 120112792 | 1p12 | A | G | 0.951 | CORT MEN | 4301 | 1.93834776123993 | 0.167906440362706 | 0.0300297 | HSD3BP4 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); GAPDHP27 (10 kb); HSD3BP3 (24 kb); GAPDHP33 (26 kb); LINC00622 (28 kb); HSD3BP5 (31 kb); GAPDHP32 (35 kb); ZNF697 (49 kb) | NA | GAPDHP58 | PHGDH | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | -0.00409509 | 0.0231967 | 0.065557606661981 | 0.0028759 | 0.020763 | 0.0506797788615024 | -0.0107239 | 0.0453361 | 0.0899030442025841 | 0.0333252 | 0.0255104 | 0.717640763534409 | 0.0497264 | 0.0273339 | 1.16052886619646 | 0.00954627 | 0.0525099 | 0.0676317776465408 | 0.00967663 | 0.0190394 | 0.213718608173261 | -0.0013632 | 0.0215589 | 0.0224629528260961 | 0.0369378 | 0.0368061 | 0.500416005837649 | -0.00331508 | 0.0138024 | 0.0914131215222417 | -0.00129655 | 0.0173163 | 0.0267266359267059 | -0.00720083 | 0.0220014 | 0.128748818370355 | 0.0058241 | 0.0136053 | 0.174836225983241 | -0.00764757 | 0.0144315 | 0.224632067408641 | 0.024009 | 0.0230318 | 0.526932198596558 | 0.00959885 | 0.0132858 | 0.327908610328139 | -0.00955264 | 0.0163245 | 0.25303048086619 | 0.0343245 | 0.0212731 | 0.972112445047523 | 0.0129254 | 0.00791757 | 0.988950006600912 | 0.0259613 | 0.0102762 | 1.93834776123993 | -0.00265684 | 0.0123086 | 0.0813915134147955 | -0.00715831 | 0.0383815 | 0.0695252349212202 | -0.0277178 | 0.0476669 | 0.251028623249247 | 0.0270668 | 0.0647535 | 0.170001911302621 | ||
rs149160089:119952402:G:C | 1 | 119952402 | 1p12 | C | G | 0.942 | PROG WOMEN | 1261 | 1.87903472211448 | 0.0149171292624901 | 1.44182 | HSD3B2 (5.2 kb); HAO2 (16 kb); HSD3BP2 (29 kb); HAO2-IT1 (39 kb) | NA | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.162239 | 0.0726142 | 1.59223020930699 | -0.0133016 | 0.0674173 | 0.0738531328364423 | 0.346473 | 0.139819 | 1.87903472211448 | 0.164445 | 0.0799039 | 1.40108152102435 | 0.0881639 | 0.08883 | 0.493319120699892 | 0.270687 | 0.154259 | 1.09835426948253 | -0.0337228 | 0.0596711 | 0.242575879640294 | -0.0288302 | 0.069998 | 0.167172508660207 | -0.0530685 | 0.108417 | 0.204362560428639 | 0.0304829 | 0.0446051 | 0.305958433435132 | 0.0220799 | 0.057774 | 0.153458780314754 | 0.0377583 | 0.0687223 | 0.234549019438586 | 0.0246246 | 0.0437612 | 0.241363601219713 | -0.00476338 | 0.0483217 | 0.0355164428749981 | 0.0282533 | 0.0706451 | 0.161650320246158 | -0.0136521 | 0.0440274 | 0.121192215810143 | 0.0579204 | 0.0551265 | 0.532533969681264 | -0.0580679 | 0.0677513 | 0.407374740330928 | -0.0132077 | 0.0255873 | 0.217723067430197 | -0.00192435 | 0.0343461 | 0.0198515846397798 | -0.0223123 | 0.0383276 | 0.251449953345219 | -0.140567 | 0.122003 | 0.603113999126267 | -0.179074 | 0.158173 | 0.588745726430367 | -0.0723516 | 0.191142 | 0.151712330904723 | ||
rs60540990:74623833:C:A | 15 | 74623833 | 15q24.1 | A | C | 0.973 | DHEAS ALL | 7659 | 1.87009108273732 | 0.0659683379031205 | 0.154804 | CCDC33 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP11A1 (6.3 kb); SEMA7A (78 kb); UBL7 (110 kb) | NA | ARID3B | CSK | CTD-2311M21.2 | CYP11A1 | CYP1A1 | GOLGA6A | LOXL1 | MAN2C1 | NEO1 | SEMA7A | UBL7 | BCAT1 | MAN2C1 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | fat-soluble vitamin metabolic process:CYP11A1 | steroid biosynthetic process:CYP11A1 | regulation of hormone levels:CYP11A1 | vitamin metabolic process:CYP11A1 | 0.0175052 | 0.0338576 | 0.21810610391216 | 0.00215853 | 0.0313448 | 0.0245185606716552 | -0.018317 | 0.0640145 | 0.110826082926112 | 0.0213616 | 0.0372491 | 0.246889790482468 | 0.0453313 | 0.0412964 | 0.564588870925726 | 0.00117875 | 0.0723664 | 0.00567888721636463 | 0.0349365 | 0.0277824 | 0.68045258023996 | 0.0252004 | 0.0325391 | 0.357742288778324 | 0.0648979 | 0.0507006 | 0.696899022425465 | 0.0506651 | 0.0205068 | 1.87009108273732 | 0.0611338 | 0.0253279 | 1.80156836489268 | 0.0355771 | 0.0333849 | 0.542760183457188 | 0.013678 | 0.0201395 | 0.303613028225079 | 0.019413 | 0.0211574 | 0.44508341872803 | 0.0202749 | 0.033911 | 0.259703644183148 | 0.0321745 | 0.019632 | 0.99465644310232 | 0.0246981 | 0.0238808 | 0.521387336018317 | 0.0523448 | 0.0316244 | 1.00929095375023 | -0.00208443 | 0.011743 | 0.0659502147354145 | -0.015838 | 0.0150982 | 0.531392761563386 | 0.011927 | 0.0185267 | 0.28422722770879 | 0.0257236 | 0.0564306 | 0.188055866692176 | -0.0759467 | 0.0726518 | 0.528629066768463 | 0.179838 | 0.0891758 | 1.35534480971151 | |
1:120104419:C:T | 1 | 120104419 | 1p12 | T | C | 0.869 | DHEAS WOMEN | 3358 | 1.86465105066535 | 0.0620683621203097 | 0.251627 | GAPDHP27 (2 kb, near gene/Upstream gene/MODIFIER); HSD3BP4 (2.3 kb, near gene/Upstream gene/MODIFIER); HSD3BP3 (16 kb); GAPDHP32 (27 kb); GAPDHP33 (34 kb); LINC00622 (36 kb); HSD3BP5 (40 kb); HSD3B1 (47 kb) | NA | GAPDHP32 | GAPDHP33 | HSD3BP4 | LINC00622 | LOC644242 | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | -0.0503339 | 0.0381564 | 0.727541065939026 | -0.0016575 | 0.0345783 | 0.0169265159949599 | -0.09975 | 0.073525 | 0.75725488865148 | 0.0208265 | 0.0419944 | 0.207613213854222 | 0.0262145 | 0.0455712 | 0.247780942554802 | -5.78985E-4 | 0.0846511 | 0.00237556165010975 | 0.0379206 | 0.0313219 | 0.645588045130512 | 0.0241337 | 0.0358977 | 0.299717804906594 | 0.0536444 | 0.0593417 | 0.43615359643806 | -0.0395573 | 0.0229652 | 1.07067867377646 | 0.00349137 | 0.0294706 | 0.0430180298264166 | -0.0880298 | 0.035695 | 1.86465105066535 | -0.0231312 | 0.0225835 | 0.514678990222105 | -0.0167521 | 0.0245277 | 0.305733595138698 | -0.0285668 | 0.0373158 | 0.352666917927602 | -0.00451224 | 0.0222479 | 0.0760936434402357 | -0.0200155 | 0.0279027 | 0.324982798379434 | 0.00120471 | 0.0346944 | 0.0121997142481276 | 0.0151454 | 0.0131674 | 0.601962720257969 | 0.0286823 | 0.0174422 | 0.99960931075009 | 0.00160373 | 0.0200023 | 0.0286796105222113 | 0.0487236 | 0.0633629 | 0.354569870188434 | 0.0435272 | 0.0798455 | 0.232288444164807 | 0.0589673 | 0.104269 | 0.242681422233678 | ||
rs6692504:120098815:A:G | 1 | 120098815 | 1p12 | G | A | 0.975 | ALDO MEN | 1307 | 1.85796424615718 | 0.385555087987758 | GAPDHP27 (2.6 kb, near gene/Downstream gene/MODIFIER); HSD3BP4 (7.9 kb); HSD3BP3 (10 kb); GAPDHP32 (21 kb); GAPDHP33 (40 kb); HSD3B1 (41 kb); LINC00622 (42 kb); HSD3BP5 (45 kb) | NA | ADAM30 | GAPDHP32 | HMGCS2 | HSD3BP4 | PHGDH | RP11-418J17.1 | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 0.0063396600000000004 | 0.0174658 | 0.144687440769877 | 0.0129845 | 0.0155563 | 0.393569188332667 | 0.00627527 | 0.0351454 | 0.0663659474425908 | 0.0323715 | 0.019203 | 1.0362348320881 | 0.0466876 | 0.0204704 | 1.64361270005147 | -0.004074 | 0.0399274 | 0.0367988663123976 | -0.00761529 | 0.0143358 | 0.225240043333206 | -0.00869227 | 0.0161551 | 0.228685232902988 | -0.0116168 | 0.0280026 | 0.168526324240007 | -0.00523463 | 0.0105755 | 0.20717703213223 | -0.00148138 | 0.0132247 | 0.0405717329861294 | -0.0140281 | 0.0169297 | 0.390058933815672 | -0.0131749 | 0.0103949 | 0.688241901945578 | -0.0018717 | 0.0110139 | 0.0629547731877884 | -0.0264223 | 0.0176926 | 0.868605918182627 | -0.00739993 | 0.0101657 | 0.331004076539191 | 0.0106893 | 0.0125338 | 0.404782742125287 | -0.0333941 | 0.0161946 | 1.40668180523942 | -0.00339047 | 0.0060542 | 0.239980330502622 | -0.0111488 | 0.00783266 | 0.810714670008925 | 0.00560497 | 0.00945495 | 0.257032265591833 | 0.0460759 | 0.028776 | 0.960613644828871 | 0.0874768 | 0.0355022 | 1.85796424615718 | -0.0317331 | 0.0490637 | 0.285674432306677 | |||
rs3207643:119928193:T:G | 1 | 119928193 | 1p12 | G | T | 0.858 | DHEAS WOMEN | 3358 | 1.82534137781043 | 0.230450268016677 | 0.0546128 | HAO2 (0 kb, intron/Intron/MODIFIER); HAO2-IT1 (15 kb); HSD3B2 (29 kb); HSD3BP2 (53 kb) | NA | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B2 | Steroid hormone biosynthesis:HSD3B2 | Cortisol synthesis and secretion:HSD3B2 | Aldosterone synthesis and secretion:HSD3B2 | Cushing syndrome:HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B2 | Androgen biosynthesis:HSD3B2 | Metabolism of steroids:HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B2 | physical disorder:HSD3B2 | cellular hormone metabolic process:HSD3B2 | androgen biosynthetic process:HSD3B2 | mineralocorticoid biosynthetic process:HSD3B2 | mineralocorticoid metabolic process:HSD3B2 | hormone biosynthetic process:HSD3B2 | hormone metabolic process:HSD3B2 | glucocorticoid biosynthetic process:HSD3B2 | glucocorticoid metabolic process:HSD3B2 | androgen metabolic process:HSD3B2 | steroid metabolic process:HSD3B2 | steroid biosynthetic process:HSD3B2 | regulation of hormone levels:HSD3B2 | -7.58954E-4 | 0.0208456 | 0.0127986610673794 | 0.00671391 | 0.0185915 | 0.143839265256008 | -0.0130517 | 0.041598 | 0.122798603654564 | 0.00172567 | 0.0229341 | 0.0268596721634822 | 0.00925105 | 0.0245049 | 0.151289426790648 | -0.0112779 | 0.0475874 | 0.0900537090007194 | 0.0157017 | 0.0171072 | 0.445136672090274 | 0.0157713 | 0.0193003 | 0.383017492593545 | 0.0167689 | 0.0333741 | 0.210768414765826 | -0.0197814 | 0.0120773 | 0.993773634623244 | 0.00256812 | 0.0150357 | 0.0632952903659876 | -0.0472445 | 0.0194136 | 1.82534137781043 | -0.0159518 | 0.0119737 | 0.738066574934669 | -0.00349912 | 0.0125519 | 0.107671609371908 | -0.0275458 | 0.020509199999999998 | 0.746560218831088 | -0.00139615 | 0.0115677 | 0.0438632780226442 | 0.00437788 | 0.0141392 | 0.120993053838453 | -0.0127799 | 0.0186895 | 0.306186025072173 | -0.00162157 | 0.00694872 | 0.0885866857532576 | 0.00590628 | 0.00896201 | 0.292537985211338 | -0.0112174 | 0.0108914 | 0.518492877106283 | -0.00159834 | 0.0343697 | 0.01641294997491 | -0.0114953 | 0.0425924 | 0.103866919744158 | 0.0138706 | 0.0583544 | 0.0903434314580018 | ||
1:119937264:T:TTA | 1 | 119937264 | 1p12 | TTA | T | 0.819 | ALDO ALL | 1993 | 1.80997101248984 | 0.0270419121926744 | HAO2 (0.51 kb, near gene/Downstream gene/MODIFIER); HSD3B2 (20 kb); HAO2-IT1 (24 kb); HSD3BP2 (44 kb) | NA | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | -0.0181753 | 0.0585256 | 0.121379982331166 | -0.0667263 | 0.0542586 | 0.659571750088262 | -0.0232526 | 0.111334 | 0.0785413938467224 | -0.00276786 | 0.0643906 | 0.0151501234241653 | -0.0644564 | 0.0715354 | 0.434475662333115 | 0.0731617 | 0.124481 | 0.254223561953789 | 0.0130403 | 0.0480397 | 0.104537120595409 | 0.0152076 | 0.0563683 | 0.103825549145164 | -0.00710488 | 0.0873344 | 0.0291024677032229 | 0.0490871 | 0.0321638 | 0.896298880410486 | 0.0514816 | 0.0404975 | 0.691124115875004 | 0.0511079 | 0.0510912 | 0.498732545542806 | -0.0383449 | 0.0322412 | 0.630198055088643 | -0.0796669 | 0.033993 | 1.71903030362613 | 0.0116426 | 0.0538496 | 0.0815355857358012 | -0.0161712 | 0.0305248 | 0.224557040666352 | -0.0457938 | 0.037791 | 0.646657054577376 | 0.0230278 | 0.0483141 | 0.198165639535973 | 0.00283401 | 0.0185766 | 0.0561361446300653 | -0.00728255 | 0.0243074 | 0.116633303839229 | 0.0150475 | 0.0286588 | 0.222178938910434 | 0.23568 | 0.0972749 | 1.80997101248984 | 0.199166 | 0.126211 | 0.940065678109909 | 0.306259 | 0.152271 | 1.34979450433395 | ||||
rs377497874:119932883:AT:ATT | 1 | 119932883 | 1p12 | ATT | AT | 0.985 | CORT WOMEN | 3366 | 1.79255414601575 | 0.0303153594771242 | 0.22877 | HAO2 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); HAO2-IT1 (20 kb); HSD3B2 (25 kb); HSD3BP2 (49 kb) | NA | Ovarian steroidogenesis:HSD3B2 | Steroid hormone biosynthesis:HSD3B2 | Cortisol synthesis and secretion:HSD3B2 | Aldosterone synthesis and secretion:HSD3B2 | Cushing syndrome:HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B2 | Androgen biosynthesis:HSD3B2 | Metabolism of steroids:HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B2 | physical disorder:HSD3B2 | cellular hormone metabolic process:HSD3B2 | androgen biosynthetic process:HSD3B2 | mineralocorticoid biosynthetic process:HSD3B2 | mineralocorticoid metabolic process:HSD3B2 | hormone biosynthetic process:HSD3B2 | hormone metabolic process:HSD3B2 | glucocorticoid biosynthetic process:HSD3B2 | glucocorticoid metabolic process:HSD3B2 | androgen metabolic process:HSD3B2 | steroid metabolic process:HSD3B2 | steroid biosynthetic process:HSD3B2 | regulation of hormone levels:HSD3B2 | -0.0456964 | 0.0482763 | 0.463475645833153 | -0.0403343 | 0.0422357 | 0.4688315867513 | -0.0174633 | 0.101925 | 0.063506364212557 | -0.00653614 | 0.0531243 | 0.0447496500363049 | 0.0430609 | 0.0556762 | 0.357129075363836 | -0.142811 | 0.114904 | 0.668927167601228 | -0.0276043 | 0.0396304 | 0.313213630191945 | -0.010872 | 0.0438684 | 0.0945808513672281 | -0.0836278 | 0.0806226 | 0.522933759399013 | 0.00283681 | 0.0284868 | 0.0358936495165465 | -0.00133599 | 0.0344391 | 0.0136511251285387 | 0.00633216 | 0.0476256 | 0.0485522213232936 | 0.029731 | 0.0281146 | 0.537173908947387 | 0.0247861 | 0.0287089 | 0.411234319052181 | 0.0348549 | 0.0500561 | 0.313158249045718 | -0.0087034 | 0.0270534 | 0.126289464056042 | 0.0129158 | 0.0324516 | 0.160755189271325 | -0.0528059 | 0.0451136 | 0.616549091777679 | 0.0339868 | 0.0163589 | 1.42309224772399 | 0.0122748 | 0.0205063 | 0.260073403116146 | 0.0641768 | 0.0266723 | 1.79255414601575 | 0.146182 | 0.0790951 | 1.18892659892689 | 0.2171 | 0.0958499 | 1.62568249717847 | 0.00566057 | 0.140722 | 0.01415829284454 | |||
rs34468200:120058254:C:T | 1 | 120058254 | 1p12 | T | C | 0.863 | TESTO WOMEN | 3352 | 1.79204265702706 | 0.0159540572792363 | 1.19311 | HSD3B1 (0.57 kb, near gene/Downstream gene/MODIFIER); GAPDHP32 (18 kb); GAPDHP58 (19 kb); HSD3BP3 (23 kb); HSD3BP1 (42 kb); GAPDHP27 (43 kb); HSD3BP4 (48 kb) | NA | NOTCH2 | RP11-418J17.1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.11824 | 0.0757863 | 0.924920430305938 | 0.0262301 | 0.068179 | 0.154590620424282 | 0.235753 | 0.149167 | 0.943087529528925 | -0.10946 | 0.0833935 | 0.722452668474002 | -0.174455 | 0.0897448 | 1.28304559136485 | 0.00399185 | 0.170049 | 0.00820793781662726 | 0.0166906 | 0.062243 | 0.103138270848855 | -0.029677 | 0.0707916 | 0.17061580971075 | 0.0974974 | 0.119219 | 0.383265142190652 | -0.0492718 | 0.0447994 | 0.566380555577946 | 0.0595434 | 0.0580696 | 0.515438239045659 | -0.159393 | 0.068807 | 1.68761105062941 | -0.0790076 | 0.0441978 | 1.13169537274017 | 0.0282028 | 0.0482781 | 0.252508177424836 | -0.17514 | 0.0728022 | 1.79204265702706 | -0.0696464 | 0.0436302 | 0.956936525023598 | -0.00572739 | 0.0551168 | 0.0375179613031383 | -0.128568 | 0.0672844 | 1.25158402822107 | 0.00475293 | 0.0257359 | 0.0688071603094361 | 0.00131541 | 0.0343897 | 0.0134575621046528 | 0.00893589 | 0.0386731 | 0.0876360368786369 | 0.182705 | 0.124054 | 0.850882542630297 | 0.0895934 | 0.153327 | 0.252509730967774 | 0.373694 | 0.210917 | 1.11418154127674 | ||
rs2362811:120014923:G:A | 1 | 120014923 | 1p12 | A | G | 0.971 | OHP17 ALL | 2070 | 1.74315241793933 | 0.430573913043478 | HSD3BP1 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); GAPDHP23 (9.3 kb); GAPDHP58 (24 kb); HSD3BP2 (26 kb); HSD3B1 (35 kb); HSD3B2 (49 kb) | NA | FCGR1B | PHGDH | RP11-418J17.1 | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | 0.0292569 | 0.0167994 | 1.08757811830119 | 0.0229165 | 0.0151612 | 0.883096850317361 | 0.0326974 | 0.0335749 | 0.481324216884133 | 0.0437055 | 0.018471 | 1.74315241793933 | 0.0407752 | 0.0199697 | 1.38342156998922 | 0.0348169 | 0.0376358 | 0.449491586739529 | 0.00604431 | 0.0137989 | 0.179528586562359 | -9.43633E-4 | 0.0157556 | 0.0212485625953398 | 0.00772656 | 0.0264129 | 0.113527887847024 | -0.00748226 | 0.0102851 | 0.330750082203521 | -0.0124282 | 0.0128199 | 0.478435679742028 | -0.00511846 | 0.0165409 | 0.120912726156164 | -0.00493801 | 0.0100829 | 0.204595534806547 | 0.00595899 | 0.0106751 | 0.239050801658044 | -0.0229638 | 0.0170941 | 0.746783187497871 | -0.00172954 | 0.00990461 | 0.064805720332058 | 0.0133806 | 0.0121268 | 0.568863093310614 | -0.0192753 | 0.0158753 | 0.648431718919547 | -0.00461531 | 0.00588419 | 0.363681641970796 | -0.00980527 | 0.00759789 | 0.705822664709368 | 0.00192809 | 0.00922575 | 0.0785965582789138 | -0.00994056 | 0.0276717 | 0.142993346636589 | 0.0302589 | 0.0345858 | 0.418172038460011 | -0.0774982 | 0.0462726 | 1.02489736896107 | |||
rs34291690:120099137:G:A | 1 | 120099137 | 1p12 | A | G | 0.88 | ALDO WOMEN | 686 | 1.63636545994152 | 0.17271749271137 | GAPDHP27 (2.2 kb, near gene/Downstream gene/MODIFIER); HSD3BP4 (7.6 kb); HSD3BP3 (11 kb); GAPDHP32 (22 kb); GAPDHP33 (40 kb); LINC00622 (41 kb); HSD3B1 (41 kb); HSD3BP5 (45 kb) | NA | ADAM30 | GAPDHP32 | HMGCS2 | HSD3BP4 | PHGDH | Ovarian steroidogenesis:HSD3B1 | Steroid hormone biosynthesis:HSD3B1 | Cortisol synthesis and secretion:HSD3B1 | Aldosterone synthesis and secretion:HSD3B1 | Cushing syndrome:HSD3B1 | Carbon metabolism:PHGDH | Metabolism of steroid hormones:HSD3B1 | Androgen biosynthesis:HSD3B1 | Metabolism of steroids:HSD3B1 | essential hypertension:HSD3B1 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1 | androgen biosynthetic process:HSD3B1 | mineralocorticoid biosynthetic process:HSD3B1 | mineralocorticoid metabolic process:HSD3B1 | hormone biosynthetic process:HSD3B1 | hormone metabolic process:HSD3B1 | glucocorticoid biosynthetic process:HSD3B1 | glucocorticoid metabolic process:HSD3B1 | androgen metabolic process:HSD3B1 | steroid metabolic process:HSD3B1 | steroid biosynthetic process:HSD3B1 | regulation of hormone levels:HSD3B1 | electron transport chain:PHGDH | 3.66343E-4 | 0.0234624 | 0.00544354528985878 | 0.0033421 | 0.0211023 | 0.0583971465712581 | 0.0248689 | 0.0472099 | 0.223043978814944 | 0.0232165 | 0.025808 | 0.433626153993564 | 0.0237711 | 0.0278071 | 0.405849528509147 | 0.0177611 | 0.0525822 | 0.133339977577976 | -0.00916236 | 0.0192575 | 0.197718297776025 | -0.00923344 | 0.0219099 | 0.171656596490035 | -0.0124002 | 0.0368822 | 0.132643899092911 | -0.00268287 | 0.0143101 | 0.0699255291555097 | -0.008358 | 0.0179229 | 0.193156198770602 | 0.00159623 | 0.0228616 | 0.0248734538134329 | -0.00575847 | 0.0140338 | 0.16649335693597 | 0.00205755 | 0.0149164 | 0.050468992532892 | -0.00906576 | 0.0236934 | 0.153665981146751 | -0.00407774 | 0.0138103 | 0.114757548604523 | 0.00464668 | 0.0170264 | 0.105172944930286 | -0.0236902 | 0.0219408 | 0.55243423351507 | -0.0102195 | 0.00818917 | 0.673543290912867 | -0.0201735 | 0.0106131 | 1.24163699699871 | 0.00209069 | 0.0127597 | 0.0605566307475344 | -0.0464817 | 0.0388227 | 0.635749268754024 | 0.00887002 | 0.0484592 | 0.0681385349123161 | -0.147232 | 0.0646635 | 1.63636545994152 | |||
rs4505257:74654146:T:C | 15 | 74654146 | 15q24.1 | C | T | 0.964 | DHEAS ALL | 7659 | 1.59870632259456 | 0.124677451364408 | 0.756763 | CTD-2311M21.2 (0 kb, nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CYP11A1 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); CTD-2311M21.3 (3.6 kb, near gene/Upstream gene/MODIFIER); CCDC33 (25 kb); SEMA7A (47 kb) | NA | AC100835.2 | ARID3B | C15ORF39 | CCDC33 | CLK3 | CSK | CTD-2311M21.2 | CYP11A1 | EDC3 | GOLGA6A | ISLR | ISLR2 | MAN2C1 | MPI | PML | RP11-247C2.2 | RP11-60L3.2 | RP11-69H7.2 | SCAMP2 | SCAMP5 | SNUPN | STOML1 | STRA6 | TBC1D21 | UBL7 | ULK3 | unnamed | SLC2A3 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Acute myeloid leukemia:PML | Ubiquitin mediated proteolysis:PML | Metabolism of steroid hormones:CYP11A1 | Interferon gamma signaling:PML | Metabolism of steroids:CYP11A1 | Interferon Signaling:PML | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | head and neck carcinoma:PML | head and neck cancer:PML | acute leukemia:PML | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | interferon-gamma-mediated signaling pathway:PML | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | cellular response to interferon-gamma:PML | positive regulation of axon extension:SEMA7A | fat-soluble vitamin metabolic process:CYP11A1 | response to interferon-gamma:PML | negative regulation of endocytosis:CSK | steroid biosynthetic process:CYP11A1 | cellular senescence:PML,ULK3 | positive regulation of axonogenesis:SEMA7A | regulation of axon extension:SEMA7A | protein autophosphorylation:CSK,ULK3 | Fc receptor mediated stimulatory signaling pathway:CSK | bone remodeling:CSK | regulation of hormone levels:CYP11A1 | post-Golgi vesicle-mediated transport:CSK,SCAMP2 | regulation of extent of cell growth:SEMA7A | regulation of ERK1 and ERK2 cascade:CSK,SEMA7A | cell aging:PML,ULK3 | axon extension:SEMA7A | ERK1 and ERK2 cascade:CSK,SEMA7A | aging:PML,ULK3 | vitamin metabolic process:CYP11A1 | positive regulation of cell morphogenesis involved in differentiation:SEMA7A | immune response-regulating cell surface receptor signaling pathway:CSK | neuron projection extension:SEMA7A | regulation of cell size:SEMA7A | regulation of axonogenesis:SEMA7A | regulation of cell growth:PML,SEMA7A | positive regulation of cell growth:SEMA7A | regulation of G1/S transition of mitotic cell cycle:PML | tissue remodeling:CSK | regulation of cytokine secretion:PML | positive regulation of developmental growth:SEMA7A | axonogenesis:SEMA7A | regulation of cell cycle G1/S phase transition:PML | cytokine secretion:PML | regulation of vesicle-mediated transport:CSK,TBC1D21 | positive regulation of ERK1 and ERK2 cascade:SEMA7A | developmental cell growth:SEMA7A | axon development:SEMA7A | -0.0173011 | 0.0261596 | 0.293751748329737 | -0.00846506 | 0.0234388 | 0.143851966586656 | -0.00614343 | 0.0529926 | 0.042053836923721 | 0.0186396 | 0.0287807 | 0.286267596197975 | 0.0112007 | 0.030894 | 0.144482661467725 | 0.0386722 | 0.0591349 | 0.289589817658066 | -0.0293651 | 0.0214651 | 0.765867576714275 | -0.0138396 | 0.0243355 | 0.244388848741928 | -0.0553227 | 0.0414388 | 0.739237155063832 | -0.0349326 | 0.0156059 | 1.59870632259456 | -0.0408266 | 0.0191153 | 1.48551600166776 | -0.0251147 | 0.0256412 | 0.484986328046342 | 0.00441532 | 0.0153731 | 0.111287095422411 | 0.00753757 | 0.0159609 | 0.196033774567542 | -0.00430266 | 0.0265649 | 0.0598168344688033 | 2.59354E-4 | 0.01497 | 0.00604513047002393 | 0.00391797 | 0.0180558 | 0.0818574325255537 | -0.0136026 | 0.0245644 | 0.236759991797101 | -0.00145165 | 0.00894023 | 0.0599753630335169 | -0.00363321 | 0.0113849 | 0.125152462074173 | 0.00318181 | 0.0142616 | 0.0843596016766462 | 0.0370388 | 0.0433802 | 0.405267219823357 | 0.092271 | 0.053782 | 1.06316317014593 | -0.0753665 | 0.0733018 | 0.516789397527277 | |
rs150562828:74656895:C:T | 15 | 74656895 | 15q24.1 | T | C | 0.842 | CORT WOMEN | 3366 | 1.59798980698276 | 0.0170154625668449 | 0.264626 | CTD-2311M21.2 (0 kb, nc-exon/Non coding transcript exon/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Downstream gene/MODIFIER); CYP11A1 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); CTD-2311M21.3 (0.88 kb, near gene/Upstream gene/MODIFIER); CCDC33 (28 kb); SEMA7A (45 kb) | 0.467 Facial morphology (factor 9, facial height related to vertical position of nasion) | - | COMMD4 | COX5A | CTD-2323K18.1 | FBXO22 | IMP3 | MAN2C1 | NRG4 | PML | SCAMP2 | SNUPN | UBL7 | ULK3 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | positive regulation of axon extension:SEMA7A | fat-soluble vitamin metabolic process:CYP11A1 | steroid biosynthetic process:CYP11A1 | cellular senescence:ULK3 | positive regulation of axonogenesis:SEMA7A | regulation of axon extension:SEMA7A | protein autophosphorylation:ULK3 | regulation of hormone levels:CYP11A1 | post-Golgi vesicle-mediated transport:SCAMP2 | regulation of extent of cell growth:SEMA7A | regulation of ERK1 and ERK2 cascade:SEMA7A | cell aging:ULK3 | axon extension:SEMA7A | ERK1 and ERK2 cascade:SEMA7A | aging:ULK3 | vitamin metabolic process:CYP11A1 | positive regulation of cell morphogenesis involved in differentiation:SEMA7A | neuron projection extension:SEMA7A | regulation of cell size:SEMA7A | regulation of axonogenesis:SEMA7A | regulation of cell growth:SEMA7A | positive regulation of cell growth:SEMA7A | electron transport chain:COX5A | positive regulation of developmental growth:SEMA7A | axonogenesis:SEMA7A | positive regulation of ERK1 and ERK2 cascade:SEMA7A | developmental cell growth:SEMA7A | axon development:SEMA7A | 0.106492 | 0.064298 | 1.0095394887483 | -0.0147387 | 0.0565357 | 0.0999798992580518 | 0.219788 | 0.131641 | 1.02228782366369 | 0.0272953 | 0.0707843 | 0.155011788333622 | -0.0496798 | 0.0745079 | 0.296681963038307 | 0.188705 | 0.150925 | 0.674494598915043 | -0.0124225 | 0.0528119 | 0.0893430509206136 | 0.00385134 | 0.0587041 | 0.0233286611138688 | -0.0510518 | 0.105961 | 0.200591898880893 | -0.00965321 | 0.0427046 | 0.0855690406921794 | -0.0602324 | 0.0531877 | 0.589315538458988 | 0.0504585 | 0.0686324 | 0.335153145943757 | 0.02773 | 0.0410762 | 0.301360184958059 | 0.0338552 | 0.0438937 | 0.356024510882316 | 0.0104157 | 0.070357 | 0.0543787985016965 | 0.0194134 | 0.0407426 | 0.198098474624967 | 0.0265392 | 0.0509457 | 0.220103501914541 | 0.0240421 | 0.0638881 | 0.15077597052231 | -0.0485639 | 0.0242123 | 1.347923928069 | -0.0204162 | 0.0310459 | 0.291759314217941 | -0.0854733 | 0.0381956 | 1.59798980698276 | -0.00284497 | 0.105567 | 0.00943783849709045 | -0.0281534 | 0.129052 | 0.0823149281623553 | 0.0531225 | 0.183706 | 0.112080149075397 | ||
rs17023709:119992077:A:T | 1 | 119992077 | 1p12 | T | A | 0.822 | ANDRO MEN | 1358 | 1.51859607273032 | 0.0288832083946981 | HSD3BP2 (3.4 kb, near gene/Downstream gene/MODIFIER); GAPDHP23 (13 kb); HSD3BP1 (18 kb); HSD3B2 (26 kb); GAPDHP58 (46 kb) | NA | LOC644242 | PHGDH | RP11-114O18.1 | RP11-439A17.9 | RP5-871G17.5 | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | 0.0335556 | 0.0531817 | 0.27725422814022 | 0.00117459 | 0.0500956 | 0.0081995288690391 | 0.0890155 | 0.0980343 | 0.439045394506546 | 0.067259 | 0.0584968 | 0.601428118454217 | 0.0851868 | 0.0659891 | 0.70564180976025 | 0.0504076 | 0.110493 | 0.188169720097515 | -0.0420566 | 0.0436474 | 0.474458954828637 | -0.112599 | 0.0519257 | 1.51859607273032 | 0.068365 | 0.0774707 | 0.422708159521638 | 0.0281751 | 0.0316584 | 0.427731487034776 | -0.0221429 | 0.0403757 | 0.234032086377339 | 0.079365 | 0.0495773 | 0.960927104568028 | 0.00467496 | 0.031202 | 0.0550733900137844 | 0.0324924 | 0.0336993 | 0.475017424690702 | -0.0545771 | 0.0508694 | 0.547719701132091 | 0.00164739 | 0.0306115 | 0.0190508515419653 | -0.028498 | 0.0380357 | 0.343222605764687 | 0.0266695 | 0.0478883 | 0.238381838270689 | -0.00684662 | 0.0181346 | 0.151338036736145 | -0.0273563 | 0.0240183 | 0.593950594058694 | 0.0154529 | 0.027591 | 0.240007499945132 | -0.12896 | 0.0867691 | 0.862101778809924 | -0.0607989 | 0.113849 | 0.226644407471447 | -0.236436 | 0.133482 | 1.11374509870425 | |||
rs67607949:119997166:A:G | 1 | 119997166 | 1p12 | G | A | 0.889 | ALDO MEN | 1307 | 1.49779827997349 | 0.188426702371844 | GAPDHP23 (7.5 kb); HSD3BP2 (8.5 kb); HSD3BP1 (13 kb); HSD3B2 (32 kb); GAPDHP58 (41 kb) | NA | PHGDH | WARS2 | Ovarian steroidogenesis:HSD3B1,HSD3B2 | Steroid hormone biosynthesis:HSD3B1,HSD3B2 | Cortisol synthesis and secretion:HSD3B1,HSD3B2 | Aldosterone synthesis and secretion:HSD3B1,HSD3B2 | Cushing syndrome:HSD3B1,HSD3B2 | Carbon metabolism:HAO2,PHGDH | Metabolism of steroid hormones:HSD3B1,HSD3B2 | Androgen biosynthesis:HSD3B1,HSD3B2 | Metabolism of steroids:HSD3B1,HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B1,HSD3B2 | physical disorder:HSD3B2 | polycystic ovary syndrome:HSD3B1 | tuberculosis:PHGDH | cellular hormone metabolic process:HSD3B1,HSD3B2 | androgen biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid biosynthetic process:HSD3B1,HSD3B2 | mineralocorticoid metabolic process:HSD3B1,HSD3B2 | hormone biosynthetic process:HSD3B1,HSD3B2 | hormone metabolic process:HSD3B1,HSD3B2 | glucocorticoid biosynthetic process:HSD3B1,HSD3B2 | glucocorticoid metabolic process:HSD3B1,HSD3B2 | androgen metabolic process:HSD3B1,HSD3B2 | steroid metabolic process:HSD3B1,HSD3B2 | steroid biosynthetic process:HSD3B1,HSD3B2 | regulation of hormone levels:HSD3B1,HSD3B2 | electron transport chain:PHGDH | -0.0063767 | 0.0229661 | 0.107179952250669 | 0.00664111 | 0.020741 | 0.125592407192672 | -0.0320835 | 0.0450639 | 0.321944386494744 | 0.0296555 | 0.0252591 | 0.618866861682949 | 0.032411 | 0.027325 | 0.627493036637101 | 0.0134697 | 0.0511918 | 0.100982645300088 | 0.00127424 | 0.0188516 | 0.0240556129941598 | -0.00357291 | 0.0215366 | 0.0613497059048599 | 0.00146937 | 0.0359086 | 0.01440693610071 | -0.0110938 | 0.0140456 | 0.366916520109504 | -0.0129228 | 0.0174227 | 0.33889184005951 | -0.012105 | 0.022719 | 0.226095858154468 | -0.0117435 | 0.0137781 | 0.404468506958464 | -0.00344891 | 0.014545 | 0.0901424226540604 | -0.0360122 | 0.0233772 | 0.908533532281802 | -0.0141842 | 0.0135214 | 0.531400143167812 | 0.015679 | 0.0164887 | 0.466407134581699 | -0.0456179 | 0.0217448 | 1.44471566471238 | 6.03674E-4 | 0.00803312 | 0.0268273332180219 | -0.00815849 | 0.010335 | 0.366658821451959 | 0.0116242 | 0.0126469 | 0.446087859618124 | 0.0619589 | 0.0378572 | 0.991987800961366 | 0.101839 | 0.0473792 | 1.49779827997349 | -0.00576866 | 0.0630046 | 0.0328851301828246 | |||
rs72691186:119932836:C:T | 1 | 119932836 | 1p12 | T | C | 0.854 | ALDO WOMEN | 686 | 1.47742667110688 | 0.0294708454810496 | HAO2 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); HAO2-IT1 (20 kb); HSD3B2 (25 kb); HSD3BP2 (49 kb) | NA | WARS2 | Ovarian steroidogenesis:HSD3B2 | Steroid hormone biosynthesis:HSD3B2 | Cortisol synthesis and secretion:HSD3B2 | Aldosterone synthesis and secretion:HSD3B2 | Cushing syndrome:HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B2 | Androgen biosynthesis:HSD3B2 | Metabolism of steroids:HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B2 | physical disorder:HSD3B2 | cellular hormone metabolic process:HSD3B2 | androgen biosynthetic process:HSD3B2 | mineralocorticoid biosynthetic process:HSD3B2 | mineralocorticoid metabolic process:HSD3B2 | hormone biosynthetic process:HSD3B2 | hormone metabolic process:HSD3B2 | glucocorticoid biosynthetic process:HSD3B2 | glucocorticoid metabolic process:HSD3B2 | androgen metabolic process:HSD3B2 | steroid metabolic process:HSD3B2 | steroid biosynthetic process:HSD3B2 | regulation of hormone levels:HSD3B2 | -0.00260038 | 0.0492091 | 0.0186970555932391 | 0.017419 | 0.0432502 | 0.162918745111461 | -0.0229067 | 0.102072 | 0.0848994719986415 | 0.0230004 | 0.0541369 | 0.173287188459985 | -0.0120922 | 0.0570095 | 0.0798484872417323 | 0.113691 | 0.115527 | 0.487579782111224 | 0.0296601 | 0.0403869 | 0.334616033885673 | -0.0158028 | 0.0449087 | 0.139675172220136 | 0.138893 | 0.0809204 | 1.06286341135763 | -0.0347611 | 0.0296362 | 0.618298431041797 | -0.0532292 | 0.0365285 | 0.838446339124541 | -0.0153192 | 0.048228 | 0.124500609782061 | 0.00876059 | 0.0291696 | 0.116950414147327 | -0.00293049 | 0.0303935 | 0.0347098493006202 | 0.0667419 | 0.0506503 | 0.726757906045399 | 0.00581507 | 0.0283257 | 0.0770966059334544 | 0.0269749 | 0.034459 | 0.362773528714897 | -0.0226505 | 0.0464096 | 0.203765742868877 | -0.00611329 | 0.0169903 | 0.143278357986065 | -0.0170798 | 0.0216605 | 0.36613580980483 | 0.0075675 | 0.0270181 | 0.108234583624455 | -0.111487 | 0.0833278 | 0.742151099926033 | -0.0255427 | 0.0999227 | 0.0978442073108779 | -0.322432 | 0.151188 | 1.47742667110688 | |||
rs139794652:74643319:T:A | 15 | 74643319 | 15q24.1 | A | T | 0.959 | PROG ALL | 2070 | 1.44977898719536 | 0.0140345410628019 | CYP11A1 (0 kb, intron/NMD transcript/MODIFIER | intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER); CTD-2311M21.2 (0 kb, intron/Intron/MODIFIER | nc-RNA/Non coding transcript/MODIFIER | near gene/Upstream gene/MODIFIER); CCDC33 (15 kb); SEMA7A (58 kb) | NA | ARID3B | CLK3 | COMMD4 | CSK | CTD-2311M21.2 | CYP11A1 | GOLGA6A | MAN2C1 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Metabolism of steroid hormones:CYP11A1 | Metabolism of steroids:CYP11A1 | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | fat-soluble vitamin metabolic process:CYP11A1 | steroid biosynthetic process:CYP11A1 | protein autophosphorylation:CLK3 | regulation of hormone levels:CYP11A1 | vitamin metabolic process:CYP11A1 | 0.153153 | 0.0727915 | 1.44977898719536 | 0.0761157 | 0.0669293 | 0.592384782150784 | 0.08315 | 0.143322 | 0.250414399946213 | 0.144115 | 0.0801074 | 1.14170106807544 | 0.140934 | 0.0881767 | 0.957790819596541 | 0.156301 | 0.157311 | 0.493811671544134 | 0.0108496 | 0.0598128 | 0.067486663563135 | -0.0210202 | 0.0695255 | 0.117794327317816 | 0.0698006 | 0.110387 | 0.277878814608751 | -0.0337886 | 0.0396717 | 0.404088420973093 | 0.0188097 | 0.0506276 | 0.148593037895564 | -0.0904088 | 0.0620036 | 0.839213442883996 | -0.0281913 | 0.039787 | 0.320026398296697 | -0.0118899 | 0.0423826 | 0.10842574871815 | -0.0610038 | 0.0661009 | 0.448470713924488 | 0.0739977 | 0.037893 | 1.29377224850393 | 0.0953791 | 0.0473166 | 1.35828104816721 | 0.0536668 | 0.0591463 | 0.438637402363382 | 0.00486268 | 0.0229593 | 0.0797373251219845 | -0.00792127 | 0.030409 | 0.0999142979263622 | 0.0196285 | 0.0348785 | 0.241396157340123 | -0.10981 | 0.118104 | 0.452717692036697 | -0.188277 | 0.150491 | 0.67545622334231 | 0.0232259 | 0.190314 | 0.0443589039805345 | |||
rs140793456:74667907:TAA:T | 15 | 74667907 | 15q24.1 | T | TAA | 0.956 | ALDO ALL | 1993 | 1.38601555007481 | 0.80871801304566 | CYP11A1 (7.8 kb); SEMA7A (34 kb); CCDC33 (39 kb); UBL7 (70 kb) | 0.352 Blood protein levels | ARID3B | C15orf17 | COX5A | CSK | CTD-2311M21.2 | CYP11A1 | FAM219B | GOLGA6A | ISLR | ISLR2 | MAN2C1 | MPI | PML | RP11-247C2.2 | RP11-60L3.2 | RP11-69H7.2 | SCAMP2 | SCAMP5 | STOML1 | STRA6 | UBL7 | ULK3 | MAN2C1 | SLC2A3 | Ovarian steroidogenesis:CYP11A1 | Steroid hormone biosynthesis:CYP11A1 | Cortisol synthesis and secretion:CYP11A1 | Aldosterone synthesis and secretion:CYP11A1 | Cushing syndrome:CYP11A1 | Acute myeloid leukemia:PML | Ubiquitin mediated proteolysis:PML | Metabolism of steroid hormones:CYP11A1 | Interferon gamma signaling:PML | Metabolism of steroids:CYP11A1 | Interferon Signaling:PML | Cytochrome P450 - arranged by substrate type:CYP11A1 | Phase I - Functionalization of compounds:CYP11A1 | hypospadias:CYP11A1 | essential hypertension:CYP11A1 | physical disorder:CYP11A1 | polycystic ovary syndrome:CYP11A1 | head and neck carcinoma:PML | head and neck cancer:PML | acute leukemia:PML | cellular hormone metabolic process:CYP11A1 | hormone biosynthetic process:CYP11A1 | hormone metabolic process:CYP11A1 | interferon-gamma-mediated signaling pathway:PML | vitamin D metabolic process:CYP11A1 | steroid metabolic process:CYP11A1 | cellular response to interferon-gamma:PML | positive regulation of axon extension:SEMA7A | fat-soluble vitamin metabolic process:CYP11A1 | response to interferon-gamma:PML | negative regulation of endocytosis:CSK | steroid biosynthetic process:CYP11A1 | cellular senescence:PML,ULK3 | positive regulation of axonogenesis:SEMA7A | regulation of axon extension:SEMA7A | protein autophosphorylation:CSK,ULK3 | Fc receptor mediated stimulatory signaling pathway:CSK | bone remodeling:CSK | regulation of hormone levels:CYP11A1 | post-Golgi vesicle-mediated transport:CSK,SCAMP2 | regulation of extent of cell growth:SEMA7A | regulation of ERK1 and ERK2 cascade:CSK,SEMA7A | cell aging:PML,ULK3 | axon extension:SEMA7A | ERK1 and ERK2 cascade:CSK,SEMA7A | aging:PML,ULK3 | vitamin metabolic process:CYP11A1 | positive regulation of cell morphogenesis involved in differentiation:SEMA7A | immune response-regulating cell surface receptor signaling pathway:CSK | neuron projection extension:SEMA7A | regulation of cell size:SEMA7A | regulation of axonogenesis:SEMA7A | regulation of cell growth:PML,SEMA7A | positive regulation of cell growth:SEMA7A | regulation of G1/S transition of mitotic cell cycle:PML | tissue remodeling:CSK | regulation of cytokine secretion:PML | positive regulation of developmental growth:SEMA7A | axonogenesis:SEMA7A | regulation of cell cycle G1/S phase transition:PML | cytokine secretion:PML | regulation of vesicle-mediated transport:CSK | positive regulation of ERK1 and ERK2 cascade:SEMA7A | developmental cell growth:SEMA7A | axon development:SEMA7A | -0.0219574 | 0.0220413 | 0.495839167206567 | 0.0107395 | 0.0194873 | 0.235336774254334 | -0.0453616 | 0.0450959 | 0.502423541412645 | 0.00258377 | 0.0242553 | 0.0384949029944518 | 0.00235869 | 0.0256885 | 0.0329882028840239 | 0.00932744 | 0.0511432 | 0.0678622331927713 | -0.0133336 | 0.0180941 | 0.336049497664742 | -0.00506358 | 0.020236 | 0.0955820186123045 | -0.0258101 | 0.0358606 | 0.326126095245574 | -0.0042667 | 0.0131573 | 0.127422461952875 | -0.0228637 | 0.0164858 | 0.781249238902251 | 0.020649 | 0.0209975 | 0.487567770518531 | 0.00275295 | 0.0129594 | 0.0799951812797244 | 0.0233589 | 0.0137174 | 1.05259814061506 | -0.0152608 | 0.02213 | 0.309408803152632 | 0.0113133 | 0.0125831 | 0.433434065203164 | 0.0175415 | 0.0155866 | 0.584339006994379 | 0.00479785 | 0.0200003 | 0.0912914574197951 | -0.00309622 | 0.00754889 | 0.166411802636782 | -0.00956246 | 0.00977338 | 0.48430229311754 | 0.0059258 | 0.0117734 | 0.211310646628222 | 0.074449 | 0.0364283 | 1.38601555007481 | 0.0786909 | 0.0445654 | 1.10972600666071 | 0.0626397 | 0.0633215 | 0.490931954982838 | ||
rs143778811:119931963:T:C | 1 | 119931963 | 1p12 | C | T | 0.932 | ANDRO MEN | 1358 | 1.35862902189137 | 0.0122927098674521 | HAO2 (0 kb, intron/Intron/MODIFIER | near gene/Downstream gene/MODIFIER | near gene/Upstream gene/MODIFIER); HAO2-IT1 (19 kb); HSD3B2 (26 kb); HSD3BP2 (50 kb) | NA | NOTCH2 | PHGDH | WARS2 | ZNF697 | Ovarian steroidogenesis:HSD3B2 | Steroid hormone biosynthesis:HSD3B2 | Cortisol synthesis and secretion:HSD3B2 | Aldosterone synthesis and secretion:HSD3B2 | Cushing syndrome:HSD3B2 | Carbon metabolism:HAO2 | Metabolism of steroid hormones:HSD3B2 | Androgen biosynthesis:HSD3B2 | Metabolism of steroids:HSD3B2 | hypospadias:HSD3B2 | essential hypertension:HSD3B2 | physical disorder:HSD3B2 | cellular hormone metabolic process:HSD3B2 | androgen biosynthetic process:HSD3B2 | mineralocorticoid biosynthetic process:HSD3B2 | mineralocorticoid metabolic process:HSD3B2 | hormone biosynthetic process:HSD3B2 | hormone metabolic process:HSD3B2 | glucocorticoid biosynthetic process:HSD3B2 | glucocorticoid metabolic process:HSD3B2 | androgen metabolic process:HSD3B2 | steroid metabolic process:HSD3B2 | steroid biosynthetic process:HSD3B2 | regulation of hormone levels:HSD3B2 | 0.0991826 | 0.0804484 | 0.662013914725362 | 0.0280474 | 0.0708467 | 0.159737035582388 | -0.0542056 | 0.0885329 | 0.267260550706953 | -0.107111 | 0.0933413 | 0.59968655485967 | 0.0611766 | 0.188589 | 0.127414308703378 | 0.044033 | 0.0660514 | 0.296646707081701 | 0.148234 | 0.0734562 | 1.35862902189137 | -0.178324 | 0.13212 | 0.750703784455723 | 0.0891844 | 0.0469769 | 1.23932349844741 | 0.0739042 | 0.0572 | 0.706977941837528 | 0.11202 | 0.0777081 | 0.825562203547954 | -0.00641688 | 0.0464833 | 0.050510946470874 | -0.0206988 | 0.0477213 | 0.177522007764801 | -0.0487951 | 0.0817738 | 0.259083346276323 | 0.0157639 | 0.0448343 | 0.139580533414619 | 0.0560347 | 0.0539179 | 0.524788041198424 | -0.054186 | 0.0740821 | 0.333000257317172 | 0.0270572 | 0.0270262 | 0.499275149949771 | 0.0127094 | 0.0340943 | 0.149158406872686 | 0.0512752 | 0.043606 | 0.620433440027134 | 0.0423623 | 0.131757 | 0.126184340561976 | -0.0600766 | 0.161663 | 0.148594872318709 | 0.24363 | 0.227808 | 0.544783482034364 |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
AA
AB
AC
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
Supplemental Table 7: Summary of all analyzed literature SNPs reported to be associated with steroid hormones. For each study, first author and year is provided. P-values are colored red, if they reach nominal significance (p<0.05). SNPs were successfully replicated when direction of effects were concordant and the association reached at least nominal significance in our data. | ||||||||||||||||||||||||||||
SNP Info | literature info | replication info | ALL | MEN | WOMEN | Replication | locus lead SNP in our data (r2 lit-lead) | |||||||||||||||||||||
lit SNP | Study | Pheno | Gene | EA | EAF | beta | p-value | SNP | Cytoband | info | EA | EAF | beta | -logp | beta | -logp | beta | -logp | replicated | comment | lead SNP | r2 | beta | -logp | beta | -logp | beta | -logp |
rs12150660 | Ohlsson 2011 | TESTO MEN | SHBG | T | 0.23 | 31.8 | 1.2E-41 | rs12150660:7521915:G:T | 17p13.1 | 0.899 | T | 0.250012374737823 | 0.0513828 | 4.92122428474597 | 0.0800614 | 10.2575851898817 | 0.0184666 | 0.441952972452723 | 1 | rs35695070:7343539:GC:G | 0.212286 | 0.0408821 | 4.15770536341877 | 0.0734806 | 10.8095394335565 | -0.00266917 | 0.0565213128828303 | |
rs11761528 | Zhai 2011 | DHEAS ALL | ZKSCAN5 | T | 0.08 | -0.16 | 3.15E-36 | rs11761528:99118801:C:T | 7q22.1 | 0.995 | T | 0.0871368977673325 | -0.141551 | 14.8501191696353 | -0.12675 | 7.94843846829934 | -0.156331 | 7.465360980929 | 1 | |||||||||
rs2414095 | Chen 2013 | E2 MEN | CYP19A1 | A | 0.31 | -0.08 | 6.54E-31 | rs2899470:51503677:T:G | 15q21.2 | 1 | G | 0.578993821712268 | 0.0628489 | 9.88445272354337 | 0.0649689 | 7.40842678685961 | 0.0593533 | 3.68949998640284 | 1 | as proxy SNP (r²=0.61) | rs17601876:51553909:A:G | 0.435257 | 0.0694361 | 12.3343871181176 | 0.07022449 | 8.663996 | 0.063851 | 4.44267208683599 |
rs727479 | Eriksson 2018 | E2 MEN | CYP19A1 | A | 0.65 | 1.39 | 8.2E-30 | rs2899470:51503677:T:G | 15q21.2 | 1 | G | 0.578993821712268 | 0.0628489 | 9.88445272354337 | 0.0649689 | 7.40842678685961 | 0.0593533 | 3.68949998640284 | 1 | as proxy SNP (r²=0.61) | ||||||||
rs2445762 | Chen 2013 | E2 MEN | CYP19A1 | C | 0.28 | -0.08 | 7.75E-28 | rs2445762:51617708:T:C | 15q21.2 | 1 | C | 0.244704324801412 | 0.0343936 | 2.68754124757932 | 0.0328406 | 1.80151061607512 | 0.035201 | 1.29524909570933 | 0 | |||||||||
rs6258 | Ohlsson 2011 | TESTO MEN | SHBG | T | 0.02 | -82.3 | 2.3E-22 | rs6258:7534678:C:T | 17p13.1 | no proxy SNP in LD | ||||||||||||||||||
rs2637125 | Zhai 2011 | DHEAS ALL | SULT2A1 | A | 0.15 | -0.09 | 2.61E-19 | rs2637125:48401893:G:A | 19q13.33 | 0.999 | A | 0.169870805588197 | -0.0912927 | 11.2379744938728 | -0.0508759 | 2.66882788848135 | -0.139331 | 10.282014290323 | 1 | rs296360:48388658:T:C | 0.727494 | -0.0922151 | 11.4516523547738 | -0.0489511 | 2.48771193156156 | -0.142747 | 10.8409684861503 | |
rs740160 | Zhai 2011 | DHEAS ALL | ARPC1A | T | 0.05 | 0.15 | 1.56E-16 | rs740160:98957880:C:T | 7q22.1 | 0.989 | T | 0.0439417808219179 | -0.019228 | 0.366767945746529 | 0.0244256 | 0.377266999569573 | -0.0723932 | 1.18758202148573 | 0 | |||||||||
rs148982377 | Ruth 2016 | DHEAS ALL | ZNF789 | C | 0.038 | -0.255 | 1.82E-14 | rs148982377:99075038:T:C | 7q22.1 | 0.994 | C | 0.0418983548766158 | -0.268007 | 26.2603817762248 | -0.287705 | 19.4473524650698 | -0.241836 | 8.96150700601194 | 1 | |||||||||
rs34670419 | Ruth 2016 | DHEAS ALL | ZKSCAN5 / CYP3A4 / CYP3A7 | T | 0.037 | -0.259 | 1.97E-14 | rs34670419:99130834:G:T | 7q22.1 | 1 | T | 0.0404099751925839 | -0.268772 | 25.656398429307 | -0.282397 | 18.2677494201057 | -0.249009 | 9.1847809915738 | 1 | 7:99025328:C:T | 0.847971 | -0.303133 | 27.8599919032424 | -0.325069 | 20.6161110614346 | -0.274535 | 9.51951157354003 | |
rs34670419 | Ruth 2016 | PROG ALL | ZKSCAN5 / CYP3A4 / CYP3A7 | T | 0.037 | -0.346 | 6.09E-14 | rs34670419:99130834:G:T | 7q22.1 | 1 | T | 0.0404099751925839 | 0.0524288 | 0.684048537322359 | 0.0342685 | 0.452411109050585 | 0.031009 | 0.150144667734949 | 0 | |||||||||
rs148982377 | Ruth 2016 | PROG ALL | ZNF789 | C | 0.038 | -0.331 | 2.99E-13 | rs148982377:99075038:T:C | 7q22.1 | 0.994 | C | 0.0418983548766158 | 0.050609 | 0.659357622439295 | 0.0338358 | 0.448063523196025 | 0.0374357 | 0.190348049665354 | 0 | |||||||||
rs727428 | Jin 2012 | TESTO MEN | SHBG | T | 0.414 | -0.073 | 1.26E-12 | rs727428:7537792:T:C | 17p13.1 | 0.858 | C | 0.584333488697273 | 0.0374426 | 3.57752999337336 | 0.059878 | 7.5966598122779 | 0.0126635 | 0.32756684834311 | 1 | |||||||||
rs12589136 | Bolton 2014 | CORT ALL | SERPINA6 / SERPINA1 | T | 0.22 | 0.1 | 3.32E-12 | rs12589136:94793686:G:T | 14q32.13 | 1 | T | 0.223490283031172 | 0.0401634 | 8.17675797829542 | 0.0367613 | 4.3685592751177 | 0.0452295 | 4.5596624855406 | 1 | rs9989237:94795202:C:T | 0.993903 | 0.0403298 | 8.24307876570261 | 0.0370085 | 4.41924489974262 | 0.0452752 | 4.57411216260854 | |
rs78900934 | Prins 2017 | DHEAS ALL | PPIAP7 | A | 0.31 | 0.05 | 5.88E-12 | rs78900934:101738121:C:A | 1p21.2 | 0.997 | A | 0.319840514427471 | 0.0543526 | 6.3096913725169 | 0.0494349 | 3.6408629845671 | 0.0584259 | 3.09125126751874 | 1 | |||||||||
rs112295236 | Ruth 2016 | PROG ALL | SLC22A9 | G | 0.062 | 0.255 | 7.68E-12 | rs112295236:62915346:C:G | 11q12.3 | 0.978 | G | 0.0587622931717549 | 0.0196242 | 0.219256524991344 | -0.0155719 | 0.188235366802147 | 0.0575567 | 0.35338652980779 | 0 | |||||||||
rs17277546 | Zhai 2011 | DHEAS ALL | TRIM4 / CYP3A43 | A | 0.05 | -0.11 | 4.5E-11 | rs17277546:99489571:G:A | 7q22.1 | 0.908 | A | 0.0457946859903381 | -0.160048 | 9.56877780674422 | -0.176919 | 7.40776882036297 | -0.141888 | 3.430425963035 | 1 | |||||||||
rs2749527 | Bolton 2014 | CORT ALL | SERPINA6 / SERPINA1 | T | 0.49 | -0.08 | 5.21E-11 | rs2749527:94827068:C:T | 14q32.13 | 0.988 | T | 0.509692317725316 | -0.0281537 | 5.85272879402581 | -0.0206109 | 2.20384281752038 | -0.0379568 | 4.49573443944074 | 1 | |||||||||
rs7181230 | Zhai 2011 | DHEAS ALL | BMF | G | 0.33 | 0.05 | 5.44E-11 | rs7181230:40360741:A:G | 15q15.1 | 0.997 | G | 0.368401096748923 | 0.069586 | 10.6430262350209 | 0.0577653 | 5.08508644570144 | 0.0851567 | 6.43587862448435 | 1 | rs28620926:40357171:A:G | 1 | 0.0694955 | 10.6525763042926 | 0.0579013 | 5.11753864709669 | 0.0847209 | 6.40507844101137 | |
rs2911280 | Prins 2017 | DHEAS ALL | CMIP | A | 0.08 | 0.09 | 5.97E-10 | rs2911280:81591313:A:G | 16q23.2 | 0.841 | G | 0.923867541454498 | -0.117171 | 7.68713956933953 | -0.0907728 | 3.38028907425677 | -0.148371 | 4.87414478398958 | 1 | rs57159061:81590962:T:C | 0.656314 | 0.117829 | 7.72049047060693 | 0.0912883 | 3.39981477283119 | 0.149075 | 4.87848283234815 | |
rs2497306 | Zhai 2011 | DHEAS ALL | HHEX | C | 0.49 | -0.04 | 4.64E-9 | rs2497306:94485211:A:C | 10q23.33 | 1 | C | 0.492268041237113 | -0.0156726 | 0.922941117025195 | -0.0180147 | 0.823324284487769 | -0.0145296 | 0.432015477478869 | 0 | |||||||||
rs10822184 | Jin 2012 | TESTO MEN | JMJD1C | T | 0.49 | -0.058 | 1.12E-8 | rs10822184:65337153:T:C | 10q21.3 | 1 | C | 0.518115942028985 | 0.0271116 | 2.18024817928685 | 0.0368129 | 3.34209551975946 | 0.0122873 | 0.327715527939458 | 1 | |||||||||
rs2075230 | Chen 2013 | TESTO MEN | SHBG | G | 0.29 | -0.28 | 1.13E-8 | rs2075230:7487108:A:G | 17p13.1 | 0.957 | G | 0.155119738988581 | -0.0218561 | 0.954669196158038 | -0.0523393 | 3.43269713866882 | 0.0102022 | 0.184140118330222 | 1 | |||||||||
rs5934505 | Jin 2012 | TESTO MEN | FAM9B | G | 0.278 | 0.091 | 1.61E-8 | rs5934505:8913826:T:C | Xp22.31 | 0.995 | C | 0.256028421304036 | 0.0403477 | 1.57084548791855 | 0.0643222 | 3.83124625817449 | 1 | different strand | ||||||||||
rs117585797 | Ruth 2016 | E2 ALL | ANO2 | A | 0.013 | 0.624 | 1.63E-8 | rs117585797:6011490:C:A | 12p13.31 | no proxy SNP in LD | ||||||||||||||||||
rs6738028 | Zhai 2011 | DHEAS ALL | BCL2L11 | G | 0.4 | -0.04 | 1.72E-8 | rs6738028:111949327:G:C | 2q13 | 0.966 | C | 0.591859119989555 | 0.0434589 | 4.55569439327992 | 0.0363247 | 2.32427571944251 | 0.0537376 | 2.87039710428069 | 1 | |||||||||
rs2185570 | Zhai 2011 | DHEAS ALL | CYP2C9 | C | 0.13 | -0.06 | 2.29E-8 | rs2185570:96751270:T:C | 10q23.33 | 0.983 | C | 0.122102774463007 | -0.0111061 | 0.318879115061704 | -0.024188 | 0.651366132601686 | 0.00589166 | 0.09011302756869 | 0 | |||||||||
rs1864729 | Liu 2013 | E2 WOMEN | TSPYL5 | A | 0.098 | 1.589 | 3.49E-8 | rs1864729:98282189:G:A | 8q22.1 | 0.999 | A | 0.0584581033617662 | -0.014937 | 0.345029742734676 | -0.00407329 | 0.0623687849480527 | -0.0190214 | 0.255866678788713 | 0 | |||||||||
rs11621961 | Bolton 2014 | CORT ALL | SERPINA6 / SERPINA1 | T | 0.36 | -0.08 | 3.97E-8 | rs11621961:94769476:C:T | 14q32.13 | 0.837 | T | 0.365248337028825 | -0.0191913 | 2.78522500897483 | -0.0144552 | 1.16440517404892 | -0.0245908 | 2.03437080231245 | 1 | |||||||||
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
Supplemental Table 8: Summary of all 169 CAD SNPs. Duplicated proxy SNPs are marked red. Only the best association per SNP is shown (hormone, analysis group). Log10-transformed pvaules are colored with respect to nominal significance (green) and adjusted nominal significance (red) | ||||||||||||||||||
literature info | SNP info | top phenotype | ||||||||||||||||
SNP | Chr | Cytoband | Study | Gene | EA | EAF | OR | p-value | used SNP | r2 (lit-used) | EA | OA | EAF | info | phenotype | N | beta | -logp |
rs61848342:12303813:T:C | 10 | 10p13 | vdHarst 2018 | CDC123, NUDT5, OPTN | T | 0.64 | 0.96 | 6.3E-10 | rs61848342:12303813:T:C | 1 | C | T | 0.332298415287812 | 0.97 | TESTO MEN | 4291 | 0.042029 | 3.78283465524024 |
rs12202017:134173151:A:G | 6 | 6q23.2 | Nelson 2017 | TCF21 | A | 0.702 | 1.07 | 6.0E-14 | rs2327426:134202690:T:C | 0.913053 | C | T | 0.26244699046873 | 0.992 | DHEAS ALL | 7659 | 0.0421151 | 3.62189293749026 |
rs3827066:44586023:C:T | 20 | 20q13.12 | vdHarst 2018 | PCIF1, ZNF335, NEURL2, PLTP | T | 0.14 | 1.04 | 4.4E-9 | rs3827066:44586023:C:T | 1 | T | C | 0.165883544303798 | 0.953 | E2 WOMEN | 2607 | -0.0764452 | 3.51402885503576 |
rs667920:136069472:G:T | 3 | 3q22.3 | vdHarst 2018 | STAG1, MSL2, NCK1, PPP2R3A | T | 0.78 | 1.05 | 6.0E-15 | rs667920:136069472:G:T | 1 | T | G | 0.787642488954345 | 0.997 | OHP17 MEN | 1358 | 0.0880699 | 3.4335990442914 |
rs17517928:216291359:C:T | 2 | 2q35 | Klarin 2017 | FN1 | C | 0.75 | 1.06 | 1.06E-8 | rs17517928:216291359:C:T | 1 | T | C | 0.26998826137994 | 1 | CORT ALL | 7667 | 0.0213627 | 3.06306774707918 |
rs7947761:100624599:A:G | 11 | 11q22.1 | vdHarst 2018 | ARHGAP42 | A | 0.72 | 0.96 | 3.0E-9 | rs7947761:100624599:A:G | 1 | G | A | 0.264116715758468 | 0.994 | PROG MEN | 1358 | 0.0550771 | 2.92422317883927 |
rs11099493:82587050:A:G | 4 | 4q21.22 | vdHarst 2018 | HNRNPD, RASGEF1B | A | 0.69 | 1.04 | 5.1E-10 | rs11099493:82587050:A:G | 1 | G | A | 0.320947272013607 | 1 | TESTO ALL | 7643 | 0.0338407 | 2.87829574326296 |
rs4299376:44072576:G:T | 2 | 2p21 | Nelson 2017 | ABCG5, ABCG8 | G | 0.319 | 1.06 | 5.7E-10 | rs4299376:44072576:G:T | 1 | T | G | 0.68127912113462 | 0.994 | CORT MEN | 4301 | -0.0252385 | 2.76860942572969 |
rs13003675:233584109:C:T | 2 | 2q37.1 | Nelson 2017 | KCNJ13, GIGYF2 | T | 0.361 | 1.04 | 1.7E-6 | rs13003675:233584109:C:T | 1 | T | C | 0.309843294460641 | 0.998 | ALDO WOMEN | 686 | 0.0504272 | 2.64183663708693 |
rs2244608:121416988:A:G | 12 | 12q24.31 | Verweij 2017 | HNF1A, OASL | G | 0.317 | 1.056 | 1.856867E-10 | rs2244608:121416988:A:G | 1 | G | A | 0.34606800744013 | 0.968 | CORT MEN | 4301 | -0.0239442 | 2.61086936969336 |
rs2258287:121454313:C:A | 12 | 12q24.31 | Howson 2017 | C12orf43 | A | 0.34 | 1.05 | 6.0E-9 | rs2244608:121416988:A:G | 0.657349 | G | A | 0.34606800744013 | 0.968 | CORT MEN | 4301 | -0.0239442 | 2.61086936969336 |
rs1508798:9556694:T:C | 5 | 5p15.31 | vdHarst 2018 | SEMA5A, TAS2R1 | T | 0.81 | 1.05 | 4.8E-13 | rs1508798:9556694:T:C | 1 | C | T | 0.210674157303371 | 1 | OHP17 WOMEN | 712 | -0.141587 | 2.5070720698606 |
rs11191416:104604916:T:G | 10 | 10q24.32 | Nelson 2017 | CYP17A1, CNNM2, NT5C2 | T | 0.89 | 1.08 | 5.6E-9 | rs11191416:104604916:T:G | 1 | G | T | 0.113095729013255 | 0.997 | ANDRO MEN | 1358 | 0.0248666 | 2.46092264602267 |
rs2107732:45077978:G:A | 7 | 7p13 | vdHarst 2018 | CCM2, MYO1G | A | 0.09 | 0.94 | 3.6E-8 | rs2107732:45077978:G:A | 1 | A | G | 0.0927646980854197 | 0.932 | ANDRO MEN | 1358 | 0.0282487 | 2.43117193522877 |
rs1317507:113631780:A:C | 13 | 13q34 | vdHarst 2018 | MCF2L, PCID2, CUL4A | A | 0.26 | 1.04 | 8.4E-12 | rs1317507:113631780:A:C | 1 | C | A | 0.755308910162003 | 0.846 | ANDRO MEN | 1358 | 0.0200911 | 2.41502685634717 |
rs1050362:72130815:C:A | 16 | 16q22.2 | Howson 2017 | DHX38 | A | 0.38 | 1.04 | 2.32E-7 | rs1050362:72130815:C:A | 1 | A | C | 0.342541304347826 | 0.998 | PROG ALL | 2070 | -0.0502533 | 2.40629092351425 |
rs17678683:145286559:T:G | 2 | 2q22.3 | Nelson 2017 | ZEB2, AC074093.1 | G | 0.089 | 1.08 | 1.2E-7 | rs17678683:145286559:T:G | 1 | G | T | 0.110947331460674 | 0.972 | ANDRO WOMEN | 712 | 0.0441534 | 2.38034015944617 |
rs72743461:67441750:C:A | 15 | 15q22.33 | Nelson 2017 | SMAD3 | C | 0.783 | 1.07 | 4.8E-12 | rs72743461:67441750:C:A | 1 | A | C | 0.245018960674157 | 0.996 | OHP17 WOMEN | 712 | 0.125062 | 2.36816979969393 |
rs6984210:22033615:C:G | 8 | 8p21.3 | vdHarst 2018 | BMP1, SFTPC, DMTN, PHYHIP, DOK2, XPO7 | C | 0.94 | 0.92 | 2.1E-11 | rs4515546:22033325:C:T | 0.967732 | T | C | 0.0356413328502415 | 0.808 | ANDRO ALL | 2070 | 0.118314 | 2.28332652275075 |
rs11057830:125307053:G:A | 12 | 12q24.31 | Nelson 2017 | SCARB1 | A | 0.147 | 1.07 | 4.2E-9 | rs11057830:125307053:G:A | 1 | A | G | 0.148445008912656 | 0.954 | CORT WOMEN | 3366 | -0.036839 | 2.27518937618174 |
rs112635299:94838142:G:T | 14 | 14q32.13 | vdHarst 2018 | SERPINA2, SERPINA1 | T | 0.02 | 0.87 | 8.4E-10 | rs112635299:94838142:G:T | 1 | T | G | 0.0158346539268235 | 0.903 | TESTO MEN | 4291 | 0.119203 | 2.2347793793936 |
rs12999907:164957251:A:G | 2 | 2q24.3 | vdHarst 2018 | FIGN | A | 0.82 | 1.06 | 2.4E-11 | rs12999907:164957251:A:G | 1 | G | A | 0.137356039325843 | 0.978 | OHP17 WOMEN | 712 | -0.154311 | 2.20718123083076 |
rs7797644 | 7 | vdHarst 2018 | DAGLB, RAC1, FAM220A, KDELR2 | T | 0.23 | 0.96 | 2.1E-8 | rs71531392:6466636:C:T | 0.992836 | T | C | 0.20166999608304 | 0.997 | DHEAS ALL | 7659 | 0.0340262 | 2.19370468186282 | |
rs12897:172115902:G:A | 3 | 3q26.31 | vdHarst 2018 | FNDC3B | A | 0.59 | 0.96 | 1.9E-10 | rs12897:172115902:G:A | 1 | A | G | 0.617182846932698 | 1 | DHEAS WOMEN | 3358 | -0.0447501 | 2.10868336946776 |
rs742115:11327021:C:T | 6 | 6p24.2 | Nelson 2017 | ADTRP, C6orf105 | C | 0.484 | 1.04 | 2.9E-5 | rs742115:11327021:C:T | 1 | T | C | 0.506372893258427 | 0.948 | OHP17 WOMEN | 712 | 0.105239 | 2.09607209064848 |
rs12500824:77416627:A:G | 4 | 4q21.1 | vdHarst 2018 | SHROOM3, SEPT11, FAM47E, STBD1 | A | 0.36 | 1.04 | 4.1E-10 | rs12500824:77416627:A:G | 1 | G | A | 0.667168584579977 | 0.997 | E2 WOMEN | 2607 | -0.043175 | 2.07869649660397 |
rs4266144:156852592:C:G | 3 | 3q25.31 | vdHarst 2018 | CCNL1, TIPARP | C | 0.68 | 0.97 | 1.4E-8 | rs4266144:156852592:C:G | 1 | G | C | 0.326100421348315 | 0.921 | ANDRO WOMEN | 712 | 0.0300591 | 2.06016387795357 |
rs11810571:151762308:C:G | 1 | 1q21.3 | Verweij 2017 | TDRKH | G | 0.171 | 1.069 | 1.723432E-10 | rs11810571:151762308:C:G | 1 | G | C | 0.850897357058747 | 0.978 | TESTO ALL | 7643 | 0.0363515 | 2.03500443779429 |
rs17680741:82251514:T:C | 10 | 10q23.1 | vdHarst 2018 | TSPAN14, MAT1A, FAM213A | T | 0.72 | 1.05 | 2.3E-11 | rs17680741:82251514:T:C | 1 | C | T | 0.296053935860058 | 0.998 | ALDO WOMEN | 686 | 0.0510049 | 2.03407100627678 |
rs2832227:30533076:A:G | 21 | 21q21.3 | vdHarst 2018 | MAP3K7CL, BACH1 | A | 0.82 | 0.96 | 1.7E-9 | rs2832227:30533076:A:G | 1 | G | A | 0.137827850038256 | 0.995 | ALDO MEN | 1307 | -0.12856 | 2.02306753082065 |
9:136149399:G:A | 9 | 9q34.2 | Nelson 2017 | ABO | A | 0.192 | 1.08 | 1.3E-12 | 9:136149399:G:A | 1 | A | G | 0.217910788188794 | 0.991 | CORT MEN | 4301 | -0.0234959 | 2.02197158126269 |
rs585967:21270554:A:C | 2 | 2p24.1 | Nelson 2017 | APOB | C | 0.844 | 1.07 | 2.8E-8 | rs585967:21270554:A:C | 1 | C | A | 0.861422109443954 | 0.99 | E2 ALL | 6798 | -0.0361478 | 2.01974976466074 |
rs7623687:49448566:A:C | 3 | 3p21.31 | Verweij 2017 | RHOA, AMT, TCTA, CDHR4, KLHDC8B | A | 0.859 | 1.069 | 3.2844E-8 | rs7623687:49448566:A:C | 1 | C | A | 0.153476462363085 | 0.97 | TESTO MEN | 4291 | 0.0374134 | 1.94501944427297 |
rs6841581:148401190:G:A | 4 | 4q31.22 | Nelson 2017 | EDNRA | A | 0.153 | 1.07 | 4.6E-10 | rs6841581:148401190:G:A | 1 | A | G | 0.142553475935829 | 0.996 | CORT WOMEN | 3366 | 0.0315105 | 1.86343796341002 |
rs6700559:200646073:C:T | 1 | 1q32.1 | Howson 2017 | DDX59 | T | 0.47 | 0.96 | 2.5E-8 | rs6700559:200646073:C:T | 1 | T | C | 0.459323073252207 | 0.99 | E2 MEN | 4191 | 0.0297655 | 1.86170361889031 |
rs9897596:17593453:T:C | 17 | 17p11.2 | Nelson 2017 | RAI1, PEMT, RASD1 | T | 0.523 | 1.04 | 3.1E-6 | rs9897596:17593453:T:C | 1 | C | T | 0.493609858172518 | 0.948 | DHEAS MEN | 4301 | 0.031117 | 1.85583381609552 |
rs16986953:19942473:G:A | 2 | 2p24.1 | Nelson 2017 | AK097927 | A | 0.073 | 1.11 | 4.8E-10 | rs16986953:19942473:G:A | 1 | A | G | 0.0743609550561798 | 0.979 | ANDRO WOMEN | 712 | 0.049726 | 1.84860563134899 |
rs33928862:75308440:TCAGCCTCCTGAG:T | 16 | 16q23.1 | Verweij 2017 | BCAR1 | T | 0.527 | 1.049 | 2.470137E-8 | rs3851738:75387533:G:C | 0.717879 | C | G | 0.609426141567447 | 0.999 | TESTO ALL | 7643 | 0.024635 | 1.84567647100094 |
rs3851738:75387533:G:C | 16 | 16q23.1 | Klarin 2017 | CFDP1 | C | 0.6 | 1.05 | 2.43E-8 | rs3851738:75387533:G:C | 1 | C | G | 0.609426141567447 | 0.999 | TESTO ALL | 7643 | 0.024635 | 1.84567647100094 |
rs11170820:54513915:C:G | 12 | 12q13.13 | Verweij 2017 | HOXC4 | G | 0.065 | 1.098 | 4.085375E-8 | rs11170820:54513915:C:G | 1 | G | C | 0.0625462840746055 | 0.886 | CORT ALL | 7667 | -0.03069 | 1.83105489946069 |
rs1321309:36638636:G:A | 6 | 6p21.2 | vdHarst 2018 | CDKN1A, PI16 | A | 0.49 | 1.03 | 3.4E-8 | rs1321309:36638636:G:A | 1 | A | G | 0.491035265700483 | 0.999 | PROG ALL | 2070 | -0.0403864 | 1.81891995540769 |
rs11057401:124427306:T:A | 12 | 12q24.31 | Klarin 2017 | CCDC92 | T | 0.69 | 1.06 | 3.88E-9 | rs11057401:124427306:T:A | 1 | A | T | 0.304143960674157 | 0.994 | OHP17 WOMEN | 712 | -0.100331 | 1.80821654495817 |
rs3775058:96117371:A:T | 4 | 4q22.3 | vdHarst 2018 | UNC5C | A | 0.23 | 1.04 | 7.6E-9 | rs3775058:96117371:A:T | 1 | T | A | 0.784641554321967 | 0.966 | PROG WOMEN | 1261 | 0.104798 | 1.7970759723622 |
rs3936511:55860781:A:G | 5 | 5q11.2 | vdHarst 2018 | MAP3K1, MIER3 | A | 0.82 | 0.96 | 3.7E-8 | rs3936511:55860781:A:G | 1 | G | A | 0.179684536082474 | 0.996 | OHP17 MEN | 1358 | -0.0610779 | 1.79181940601805 |
rs17608766:45013271:T:C | 17 | 17q21.32 | Howson 2017 | GOSR2 | C | 0.14 | 1.07 | 4.14E-8 | rs17608766:45013271:T:C | 1 | C | T | 0.123705408515535 | 1 | E2 WOMEN | 2607 | 0.0570812 | 1.78548994546697 |
rs139016349:138099161:T:TTTC | 3 | 3q22.3 | Nelson 2017 | MRAS | I | 0.163 | 1.08 | 9.2E-12 | rs139016349:138099161:T:TTTC | 1 | TTTC | T | 0.172194010720112 | 0.993 | TESTO MEN | 4291 | -0.0331493 | 1.78383937792218 |
rs35541991:22583856:CA:C | 6 | 6p22.3 | Verweij 2017 | HDGFL1 | C | 0.348 | 1.049 | 2.567297E-8 | rs35541991:22583856:CA:C | 1 | C | CA | 0.33210235640648 | 1 | ANDRO MEN | 1358 | 0.0167142 | 1.76621221466875 |
rs10237377:139757136:G:T | 7 | 7q34 | Howson 2017 | PARP12 | T | 0.35 | 0.95 | 1.7E-7 | rs10237377:139757136:G:T | 1 | T | G | 0.375352708672402 | 0.988 | DHEAS MEN | 4301 | 0.0311339 | 1.76459276846708 |
rs1892094:169094459:C:T | 1 | 1q24.2 | Howson 2017 | ATP1B1 | T | 0.5 | 0.96 | 3.99E-8 | rs1892094:169094459:C:T | 1 | T | C | 0.497224170842281 | 0.991 | E2 MEN | 4191 | 0.0283334 | 1.75575010078802 |
rs2246942:91004886:A:G | 10 | 10q23.31 | Nelson 2017 | LIPA | G | 0.349 | 1.08 | 3.5E-16 | rs2246942:91004886:A:G | 1 | G | A | 0.325513254786451 | 0.974 | PROG MEN | 1358 | -0.037385 | 1.66921297501325 |
rs2839812:103673294:T:A | 11 | 11q22.3 | Nelson 2017 | PDGFD | T | 0.307 | 1.06 | 2.0E-11 | rs2839812:103673294:T:A | 1 | A | T | 0.724890258079516 | 0.997 | CORT MEN | 4301 | -0.0188378 | 1.64807620542985 |
rs582384:45896437:C:A | 2 | 2p21 | vdHarst 2018 | PRKCE, TMEM247 | A | 0.53 | 1.03 | 7.6E-9 | rs582384:45896437:C:A | 1 | A | C | 0.580750893388922 | 0.966 | DHEAS WOMEN | 3358 | 0.0375572 | 1.64411956971065 |
rs4472337:34769765:C:T | 6 | 6p21.31 | Nelson 2017 | ANKS1A | T | 0.155 | 1.06 | 2.4E-6 | rs4472337:34769765:C:T | 1 | T | C | 0.163025362318841 | 0.996 | OHP17 ALL | 2070 | -0.0570179 | 1.6427914889784 |
rs114452520:107176780:C:T | 7 | 7q22.3 | Nelson 2017 | 7q22 | T | 0.28 | 1.05 | 9.6E-7 | rs114452520:107176780:C:T | 1 | T | C | 0.309659620991254 | 0.998 | ALDO WOMEN | 686 | 0.0526529 | 1.63163128573164 |
rs2954029:126490972:A:T | 8 | 8q24.13 | Nelson 2017 | TRIB1 | A | 0.541 | 1.06 | 5.2E-13 | rs2954029:126490972:A:T | 1 | T | A | 0.482414948453608 | 0.997 | OHP17 MEN | 1358 | -0.0453331 | 1.6199679417213 |
rs201267813:10284499:G:GA | 11 | 11p15.4 | Nelson 2017 | MRVI1, CTR9 | I | 0.071 | 1.05 | 0.0012 | rs201267813:10284499:G:GA | 1 | GA | G | 0.0654161835748792 | 0.995 | OHP17 ALL | 2070 | -0.0857286 | 1.61458857709586 |
rs247616:56989590:C:T | 16 | 16q13 | Nelson 2017 | CETP | C | 0.678 | 1.04 | 1.0E-6 | rs56228609:56987765:C:T | 0.971568 | T | C | 0.309545389330899 | 0.942 | CORT ALL | 7667 | 0.014342 | 1.59679022588915 |
rs2071382:91428197:T:C | 15 | 15q26.1 | Nelson 2017 | FURIN, FES | T | 0.464 | 1.06 | 7.1E-13 | rs2071382:91428197:T:C | 1 | C | T | 0.499214887640449 | 0.907 | OHP17 WOMEN | 712 | 0.0906856 | 1.57737405250897 |
rs7164479:79123054:C:T | 15 | 15q25.1 | Nelson 2017 | ADAMTS7 | T | 0.578 | 1.07 | 6.4E-18 | rs7164479:79123054:C:T | 1 | T | C | 0.59035592113853 | 0.917 | DHEAS ALL | 7659 | 0.0233243 | 1.55026248994297 |
rs7306455:95355541:G:A | 12 | 12q22 | vdHarst 2018 | NDUFA12, FGD6 | A | 0.1 | 0.95 | 1.0E-8 | rs7306455:95355541:G:A | 1 | A | G | 0.0760006763285024 | 0.977 | OHP17 ALL | 2070 | 0.0773782 | 1.54886318990283 |
rs590121:75274150:G:T | 11 | 11q13.5 | Howson 2017 | SERPINH1 | T | 0.3 | 1.05 | 1.54E-8 | rs590121:75274150:G:T | 1 | T | G | 0.320844803370787 | 0.96 | ANDRO WOMEN | 712 | 0.0294017 | 1.54267684115126 |
rs10139550:100145710:C:G | 14 | 14q32.2 | Nelson 2017 | HHIPL1 | G | 0.421 | 1.05 | 1.8E-9 | rs10139550:100145710:C:G | 1 | G | C | 0.4484941089838 | 0.868 | ANDRO MEN | 1358 | 0.0168115 | 1.54199252406492 |
rs73015714:17855763:C:G | 19 | 19p13.11 | vdHarst 2018 | MAP1S, FCHO1, COLGALT1 | C | 0.8 | 0.94 | 8.3E-14 | rs73015714:17855763:C:G | 1 | G | C | 0.192273469994058 | 0.954 | CORT WOMEN | 3366 | -0.0251643 | 1.53879270121201 |
rs1887318:30321598:C:T | 10 | 10p11.23 | Nelson 2017 | KIAA1462 | T | 0.428 | 1.06 | 4.1E-12 | rs2487928:30323892:G:A | 0.992036 | A | G | 0.479489279888138 | 0.976 | TESTO MEN | 4291 | 0.0226341 | 1.53525567365409 |
rs35879803:146782837:C:A | 4 | 4q31.21 | Verweij 2017 | ZNF827 | C | 0.655 | 1.051 | 3.826364E-8 | rs35879803:146782837:C:A | 1 | A | C | 0.310091206179441 | 0.978 | CORT WOMEN | 3366 | -0.0214504 | 1.52712512288169 |
rs138120077:41790086:GTTATGGTA:G | 19 | 19q13.2 | Verweij 2017 | HNRNPUL1, TGFB1ed, CCDC97 | G | 0.172 | 1.072 | 9.440455E-9 | rs138120077:41790086:GTTATGGTA:G | 1 | G | GTTATGGTA | 0.154088775510204 | 0.859 | ALDO WOMEN | 686 | 0.06766 | 1.52286426903888 |
rs7116641:43696917:T:G | 11 | 11p11.2 | vdHarst 2018 | HSD17B12 | T | 0.69 | 0.97 | 1.0E-8 | rs58817325:43875316:G:A | 0.709298 | A | G | 0.286696545562835 | 0.999 | DHEAS WOMEN | 3358 | -0.03941 | 1.51508546402033 |
rs11617955:110818102:T:A | 13 | 13q34 | Nelson 2017 | COL4A1, COL4A2 | T | 0.891 | 1.09 | 4.1E-10 | rs11617955:110818102:T:A | 1 | A | T | 0.113380167402929 | 0.92 | CORT MEN | 4301 | -0.0262573 | 1.51289133297904 |
rs1351525:13301548:A:T | 11 | 11p15.2 | Verweij 2017 | ARNTL | T | 0.3 | 1.049 | 4.085375E-8 | rs1351525:13301548:A:T | 1 | T | A | 0.69457009997675 | 0.983 | DHEAS MEN | 4301 | 0.0297746 | 1.50597348605947 |
rs3130683:31888367:C:T | 6 | 6p21.33 | Nelson 2017 | C2 | T | 0.86 | 1.08 | 2.8E-8 | rs3130683:31888367:C:T | 1 | T | C | 0.866107063585325 | 0.981 | DHEAS ALL | 7659 | 0.0317404 | 1.5035200933351 |
rs7500448:83045790:A:G | 16 | 16q23.3 | Verweij 2017 | CDH13 | A | 0.752 | 1.069 | 4.83E-11 | rs7500448:83045790:A:G | 1 | G | A | 0.266077777777778 | 0.981 | PROG ALL | 2070 | -0.0412648 | 1.49650212193869 |
rs9964304:47229717:A:C | 18 | 18q21.1 | vdHarst 2018 | ACAA2, RPL17 | A | 0.72 | 0.96 | 1.1E-9 | rs9964304:47229717:A:C | 1 | C | A | 0.310354565537555 | 0.992 | PROG MEN | 1358 | -0.0348162 | 1.47952563797858 |
rs7568458:85788175:T:A | 2 | 2p11.2 | Nelson 2017 | VAMP5, VAMP8, GGCX | A | 0.452 | 1.06 | 2.4E-13 | rs7568458:85788175:T:A | 1 | A | T | 0.450695187165775 | 0.985 | CORT MEN | 4301 | -0.0159268 | 1.47910660288771 |
rs35614134:57832856:A:AC | 18 | 18q21.32 | Nelson 2017 | PMAIP1, MC4R | I | 0.248 | 1.04 | 1.7E-5 | rs35614134:57832856:A:AC | 1 | AC | A | 0.23571297372704 | 0.998 | DHEAS MEN | 4301 | -0.0313621 | 1.46017770673483 |
rs6689306:154395946:A:G | 1 | 1q21.3 | Nelson 2017 | IL6R | A | 0.435 | 1.05 | 1.5E-9 | rs6689306:154395946:A:G | 1 | G | A | 0.556317058960616 | 0.962 | TESTO MEN | 4291 | 0.0225526 | 1.45534295558399 |
rs6494488:65024204:G:A | 15 | 15q22.31 | Howson 2017 | OAZ2 | G | 0.18 | 0.95 | 1.43E-6 | rs6494488:65024204:G:A | 1 | A | G | 0.845468742543546 | 0.991 | E2 MEN | 4191 | 0.034013 | 1.44206713350634 |
rs1867624:62387091:C:T | 17 | 17q23.3 | Howson 2017 | PECAM1 | C | 0.39 | 0.96 | 1.14E-7 | rs1867624:62387091:C:T | 1 | T | C | 0.582225218658892 | 0.994 | ALDO WOMEN | 686 | 0.0486456 | 1.43792136099179 |
rs2229357:57843711:G:A | 12 | 12q13.3 | Nelson 2017 | LRP1 | G | 0.764 | 1.05 | 3.4E-6 | rs2229357:57843711:G:A | 1 | A | G | 0.238845144356955 | 1 | E2 MEN | 4191 | 0.0288706 | 1.42587725053716 |
rs2107595:19049388:G:A | 7 | 7p21.1 | Nelson 2017 | HDAC9 | A | 0.182 | 1.08 | 3.4E-13 | rs2107595:19049388:G:A | 1 | A | G | 0.166460355881198 | 0.99 | TESTO ALL | 7643 | 0.0278174 | 1.41612140150137 |
rs8068952:59286644:G:C | 17 | 17q23.2 | Nelson 2017 | BCAS3 | G | 0.228 | 1.07 | 1.4E-9 | rs8068952:59286644:G:C | 1 | C | G | 0.744647105471848 | 1 | PROG WOMEN | 1261 | -0.0784109 | 1.41561223055304 |
rs17581137:96146414:A:C | 15 | 15q26.2 | vdHarst 2018 | A | 0.75 | 1.04 | 1.2E-8 | rs17581137:96146414:A:C | 1 | C | A | 0.25695404334654 | 0.978 | TESTO MEN | 4291 | 0.025063 | 1.4075922726975 | |
rs77335401:131759825:T:C | 5 | 5q31.1 | Nelson 2017 | SLC22A4, SLC22A5 | C | 0.116 | 1.05 | 7.6E-5 | rs77335401:131759825:T:C | 1 | C | T | 0.113219613457409 | 0.974 | E2 MEN | 4191 | -0.0384673 | 1.40521090878296 |
rs2083636:19865263:T:G | 8 | 8p21.3 | Nelson 2017 | LPL | T | 0.742 | 1.05 | 6.4E-8 | rs2083636:19865263:T:G | 1 | G | T | 0.265217201166181 | 0.999 | ALDO WOMEN | 686 | 0.0526528 | 1.40212060700212 |
rs10841443:20220033:C:G | 12 | 12p12.2 | Klarin 2017 | RP11-664H17.1 | G | 0.67 | 1.05 | 2.23E-8 | rs10841443:20220033:C:G | 1 | G | C | 0.713287187039764 | 0.974 | ANDRO MEN | 1358 | 0.0172705 | 1.37452394757595 |
rs964184:116648917:G:C | 11 | 11q23.3 | Nelson 2017 | ZNF259, APOA5, APOA1 | G | 0.163 | 1.05 | 4.7E-6 | rs964184:116648917:G:C | 1 | C | G | 0.853498542274053 | 1 | ALDO WOMEN | 686 | 0.0685906 | 1.370228639542 |
rs2681472:90008959:A:G | 12 | 12q21.33 | Nelson 2017 | ATP2B1 | G | 0.189 | 1.07 | 7.6E-11 | rs2681472:90008959:A:G | 1 | G | A | 0.145792270531401 | 0.995 | PROG ALL | 2070 | -0.0474908 | 1.33891079470317 |
rs56015508:39152041:C:A | 6 | 6p21.2 | Nelson 2017 | KCNK5 | C | 0.794 | 1.06 | 1.1E-7 | rs56015508:39152041:C:A | 1 | A | C | 0.225267640537368 | 0.988 | CORT ALL | 7667 | -0.0137751 | 1.31791722813513 |
rs11838267:7175872:T:C | 12 | 12p13.31 | vdHarst 2018 | C1S | T | 0.87 | 1.05 | 6.1E-10 | rs11838267:7175872:T:C | 1 | C | T | 0.144342783505155 | 0.997 | ANDRO MEN | 1358 | 0.0224157 | 1.29641030815121 |
rs1591805:126717064:A:G | 6 | 6q22.32 | vdHarst 2018 | CENPW | A | 0.49 | 1.04 | 2.1E-10 | rs1591805:126717064:A:G | 1 | G | A | 0.474968599033816 | 0.992 | PROG ALL | 2070 | -0.0327723 | 1.29212422219632 |
rs60154123:210468999:C:T | 1 | 1q32.2 | vdHarst 2018 | HHAT, SERTAD4, DIEXF | T | 0.15 | 1.05 | 2.5E-8 | rs60154123:210468999:C:T | 1 | T | C | 0.123252505243533 | 0.986 | TESTO MEN | 4291 | 0.0306941 | 1.2749144756959 |
rs10267593:1937261:G:A | 7 | 7p22.3 | vdHarst 2018 | MAD1L1 | A | 0.2 | 0.96 | 1.8E-8 | rs10267593:1937261:G:A | 1 | A | G | 0.205184142394822 | 0.866 | E2 ALL | 6798 | 0.0244422 | 1.2712007872858 |
rs7528419:109817192:A:G | 1 | 1p13.3 | Nelson 2017 | SORT1 | A | 0.782 | 1.11 | 3.8E-27 | rs56246620:109816863:T:TC | 0.780232 | TC | T | 0.183647864506627 | 0.81 | ANDRO MEN | 1358 | 0.0229777 | 1.26246228598649 |
rs1870634:44480811:T:G | 10 | 10q11.21 | Nelson 2017 | CXCL12 | G | 0.648 | 1.06 | 5.5E-13 | rs1870634:44480811:T:G | 1 | G | T | 0.682485252808989 | 0.998 | OHP17 WOMEN | 712 | 0.0805756 | 1.2612432174118 |
rs8108632:41854534:T:A | 19 | 19q13.2 | Verweij 2017 | TGFB1, B9D2 | T | 0.588 | 1.052 | 9.53985E-9 | rs8108632:41854534:T:A | 1 | A | T | 0.552002915451895 | 0.914 | ALDO WOMEN | 686 | 0.0508089 | 1.26089225891289 |
rs11830157:118265441:T:G | 12 | 12q24.23 | Nelson 2017 | KSR2 | G | 0.382 | 1.03 | 0.0017 | rs11830157:118265441:T:G | 1 | G | T | 0.404618605259715 | 1 | TESTO ALL | 7643 | 0.0192582 | 1.25234819225965 |
rs7617773:48193515:C:T | 3 | 3p21.31 | vdHarst 2018 | CDC25A, SPINK8, MAP4, ZNF589 | T | 0.67 | 1.04 | 2.3E-11 | rs7617773:48193515:C:T | 1 | T | C | 0.692906082498253 | 0.95 | TESTO MEN | 4291 | -0.0215653 | 1.24769335824492 |
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
Supplemental Table 9: Results of Mendelian Randomization analysis. All 22 hits of our (meta-)GWAS were considered as instruments. CAD association was caluclated using LIFE-Heart data only (logistic regression). a)-c) Causal estimates based on single IVs defined as ratio of gentic effect on CAD by genetic effect on steroid. If possible, causal estimates of multiple IVs is calculated using the inverse-variance weighted method. Significant results (p<0.05) are colored red. For more details see Supplemental data. | |||||||||||||||
a) ALL | Y ~ G | X ~ G | causal estimate per SNP | causal estimate of multiple SNPs | |||||||||||
SNP | top phenotype | beta | se | pval | beta | se | pval | beta | se | pval | beta | se | pval | df | Q |
rs9692804:144058625:G:A | ANDRO | 0.0883407778446708 | 0.0424883745772436 | 0.0376012434437852 | 0.0900147 | 0.014171 | 2.60575E-10 | 0.98140390230341 | 0.496658847140035 | 0.0481534043281156 | |||||
rs114341625:112578458:G:A | CORT | -0.315502078115604 | 0.148064455890921 | 0.03310209593747 | -0.128447 | 0.0221222 | 6.38988E-9 | 2.4562821873271 | 1.22790296676817 | 0.0454583983224301 | 1.702 | 0.828 | 0.04 | 1 | 0.8839 |
rs9989237:94795202:C:T | CORT | 0.0362377370835763 | 0.0480015799742535 | 0.450292180374728 | 0.0403298 | 0.00692366 | 5.71375E-9 | 0.898535005965223 | 1.20018054166127 | 0.454058219468214 | |||||
rs77533229:43479638:G:A | DHEAS | -0.0777099218882482 | 0.149480450785787 | 0.603156424754866 | -0.149331 | 0.0371098 | 5.72072E-5 | 0.520387072263952 | 1.00931968446307 | 0.606146377307443 | 0.312 | 0.176 | 0.076 | 7 | 4.4474 |
rs36139342:119204625:A:AC | DHEAS | 0.023586845831697 | 0.0515413137778201 | 0.647218364481756 | -0.0871928 | 0.0127335 | 7.5155E-12 | -0.270513687273456 | 0.592437552811283 | 0.647950448233676 | Sensitivity (p<1E-5) | ||||
7:99025328:C:T | DHEAS | -0.0146280562186808 | 0.109595027436632 | 0.893818745153106 | -0.303133 | 0.0273303 | 1.38041E-28 | 0.0482562314847963 | 0.361567241632592 | 0.893826387105474 | 0.306 | 0.179 | 0.087 | 6 | 4.4029 |
rs615567:22319209:A:T | DHEAS | -0.0612334922993408 | 0.0411959729665531 | 0.137174645516785 | -0.0778523 | 0.0102432 | 2.95296E-14 | 0.786534146060435 | 0.539179847286738 | 0.144631097898864 | |||||
rs28620926:40357171:A:G | DHEAS | -0.00792000228582301 | 0.0417202871208692 | 0.849437835352289 | 0.0694955 | 0.0103873 | 2.22548E-11 | -0.113964246401897 | 0.600572384882549 | 0.849497683627921 | |||||
rs57159061:81590962:T:C | DHEAS | 0.0150852294503039 | 0.0796478199468265 | 0.84977999009247 | 0.117829 | 0.020964 | 1.90331E-8 | 0.128026457411197 | 0.676344775077599 | 0.849864194203416 | |||||
rs296360:48388658:T:C | DHEAS | -0.0189748349302286 | 0.0527239491463233 | 0.718929212946464 | -0.0922151 | 0.0132595 | 3.53466E-12 | 0.205767113306049 | 0.572514653579251 | 0.719288889203322 | |||||
rs5935876:6922078:G:A | DHEAS | -0.0691958091390917 | 0.0319245117260955 | 0.0301981097272573 | -0.0971084 | 0.0168501 | 8.26019E-9 | 0.712562550089299 | 0.351233457317088 | 0.0424844353421479 | |||||
rs35679777:68034459:CG:C | E2 | 0.0733008038719058 | 0.0414192878941234 | 0.076772743409413 | 0.0577234 | 0.00995841 | 6.77367E-9 | 1.26986289566979 | 0.750245892784104 | 0.0905324695226965 | 0.278 | 0.449 | 0.535 | 1 | 3.1357 |
rs17601876:51553909:A:G | E2 | -0.0248665291294881 | 0.0399078290586394 | 0.533219454470521 | 0.0694361 | 0.00959628 | 4.63034E-13 | -0.358121051290151 | 0.576868905704242 | 0.534730271184715 | |||||
rs145827824:32103749:C:G | OHP17 | -0.525959782278057 | 0.180981565702844 | 0.00365904669461987 | 0.699809 | 0.0846222 | 2.37316E-16 | -0.751576190472052 | 0.274119671285657 | 0.00611070112885681 | |||||
rs79589801:211054061:C:T | PROG | -0.368842280805738 | 0.184683105575848 | 0.045807469786361 | 0.371084 | 0.0735692 | 4.95707E-7 | -0.993958997978189 | 0.535277811919971 | 0.0633249495269811 | -0.243 | 0.194 | 0.209 | 6 | 6.5057 |
rs139441768:90679263:T:C | PROG | -0.0679378666540618 | 0.21894457029922 | 0.756335031298721 | 0.45207 | 0.0791544 | 1.2839E-8 | -0.150281741000424 | 0.485029924308823 | 0.75668252322366 | Sensitivity (p<1E-5) | ||||
rs10786714:104598606:G:C | PROG | -0.0128096316891892 | 0.0426670758888529 | 0.764007166662009 | 0.0509603 | 0.0177716 | 0.00417911 | -0.251364919146654 | 0.841837463309321 | 0.7652522881901 | -0.243 | 0.217 | 0.264 | 5 | 6.5056 |
rs77032081:13363279:C:T | PROG | -0.220704793370054 | 0.15248837448401 | 0.147797555105488 | 0.260374 | 0.064853 | 6.16122E-5 | -0.847645284744461 | 0.62254529890091 | 0.173330441826506 | |||||
rs142754737:43865714:C:T | PROG | -0.167964455508535 | 0.166155518720894 | 0.312070511981299 | 0.345894 | 0.0696468 | 7.38104E-7 | -0.485595169354008 | 0.490215359772667 | 0.321893061076972 | |||||
rs139203625:95099865:C:T | PROG | 0.183156402181188 | 0.190406053516161 | 0.336087123400758 | 0.524075 | 0.0786923 | 3.5044E-11 | 0.349485096944498 | 0.367088578540257 | 0.341073813488214 | |||||
rs72906582:45222771:G:A | PROG | -0.00327649424787102 | 0.0672165586161187 | 0.961122239806219 | 0.140791 | 0.0281928 | 6.41478E-7 | -0.0232720432973061 | 0.477443591362422 | 0.961124090306414 | |||||
rs35695070:7343539:GC:G | TESTO | 0.0307929158998252 | 0.0425205329817433 | 0.468949513903534 | 0.0408821 | 0.0102775 | 6.95496E-5 | 0.753212674980619 | 1.05717299058699 | 0.476168726331327 | |||||
b) MEN | Y ~ G | X ~ G | causal estimate per SNP | causal estimate of multiple SNPs | |||||||||||
SNP | top phenotype | beta | se | pval | beta | se | pval | beta | se | pval | beta | se | pval | Q | |
rs9692804:144058625:G:A | ANDRO | 0.126178129029773 | 0.0544434617075765 | 0.0204711080032694 | 0.0817186 | 0.0161876 | 5.06646E-7 | 1.54405642081206 | 0.733085882824914 | 0.0351833194210336 | |||||
rs114341625:112578458:G:A | CORT | -0.547486284277608 | 0.180619005122299 | 0.00243610842091064 | -0.115467 | 0.0284758 | 5.01527E-5 | 4.74149570247437 | 1.95299277568144 | 0.0151902921525551 | 3.373 | 1.139 | 0.003 | 1 | 1.6278 |
rs9989237:94795202:C:T | CORT | 0.0677455949428968 | 0.0614673707766704 | 0.270401187269059 | 0.0370085 | 0.00898525 | 3.80851E-5 | 1.83054149568064 | 1.71933332388578 | 0.287020318054961 | |||||
rs77533229:43479638:G:A | DHEAS | 0.0227527241137642 | 0.190517493246793 | 0.90493793866971 | 0.0646403 | 0.0455445 | 0.155819 | 0.351989766658945 | 2.95776443609716 | 0.905271123988931 | -0.235 | 0.313 | 0.454 | 7 | 9.4639 |
rs36139342:119204625:A:AC | DHEAS | 0.0733791803447363 | 0.0669873627488642 | 0.273333437958402 | -0.0882746 | 0.0160836 | 4.05368E-8 | -0.831260411768915 | 0.773818571940106 | 0.282718864309989 | Sensitivity (p<1E-5) | ||||
7:99025328:C:T | DHEAS | 0.0322011544095774 | 0.140385483566662 | 0.818576169264848 | -0.325069 | 0.0342714 | 2.42041E-21 | -0.0990594440244298 | 0.431989905625226 | 0.818628271740706 | -0.453 | 0.314 | 0.149 | 3 | 2.9412 |
rs615567:22319209:A:T | DHEAS | 0.0216520926359921 | 0.0527528353190738 | 0.681480165299533 | -0.0716892 | 0.0128678 | 2.52996E-8 | -0.302027259838192 | 0.73784897457876 | 0.68229398296723 | |||||
rs28620926:40357171:A:G | DHEAS | -0.101520261093515 | 0.0535208057907811 | 0.0578494138995171 | 0.0579013 | 0.0129378 | 7.62889E-6 | -1.75333301831764 | 1.0039432804727 | 0.0807334321702783 | |||||
rs57159061:81590962:T:C | DHEAS | -0.0712876549327431 | 0.100801100856673 | 0.4794353169045 | 0.0912883 | 0.0257788 | 3.98277E-4 | -0.780906807693243 | 1.12601065245699 | 0.487985563299124 | |||||
rs296360:48388658:T:C | DHEAS | 0.0792258823013609 | 0.0691358559737637 | 0.251817946972069 | -0.0489511 | 0.0166344 | 0.00325303 | -1.61846990775204 | 1.51565187685471 | 0.285593820167756 | |||||
rs5935876:6922078:G:A | DHEAS | -0.0690195155556132 | 0.0375609903929775 | 0.0661314214421093 | -0.0563848 | 0.0185186 | 0.00232865 | 1.2240801697552 | 0.778066921249105 | 0.115664991871925 | |||||
rs35679777:68034459:CG:C | E2 | 0.065222889879077 | 0.0525471845745981 | 0.21452256663616 | 0.0393347 | 0.0122194 | 0.001286261 | 1.65815145098544 | 1.43176890337266 | 0.246817563313875 | -0.048 | 0.638 | 0.94 | 1 | 2.1129 |
rs17601876:51553909:A:G | E2 | -0.0387866164324631 | 0.0510220047404833 | 0.447138694644282 | 0.07022449 | 0.01173398 | 2.167724E-9 | -0.552323219897548 | 0.732393661206968 | 0.450768551379231 | |||||
rs145827824:32103749:C:G | OHP17 | -0.475930366377712 | 0.236879417591746 | 0.0445194003636303 | 0.57225 | 0.107828 | 1.300361E-7 | -0.831682597427194 | 0.442615362244717 | 0.0602419229790763 | |||||
rs79589801:211054061:C:T | PROG | -0.421620886586319 | 0.230278442272322 | 0.0671128210866539 | 0.0592719 | 0.0675164 | 0.38016 | -7.11333509785107 | 8.98605001065703 | 0.42859538079417 | -0.2 | 0.581 | 0.73 | 6 | 8.6816 |
rs139441768:90679263:T:C | PROG | 0.189380604165696 | 0.303410176756795 | 0.532513621833179 | 0.155067 | 0.0794433 | 0.0511532 | 1.22128244027225 | 2.05424333803354 | 0.552166423061775 | |||||
rs10786714:104598606:G:C | PROG | -0.0449125440891413 | 0.0543019730766722 | 0.408186832672847 | 0.0951468 | 0.0158349 | 2.40027E-9 | -0.472034204924825 | 0.576099205111178 | 0.412579504725985 | |||||
rs77032081:13363279:C:T | PROG | -0.267389082778421 | 0.196983715652019 | 0.174648687675104 | -0.0275468 | 0.0600816 | 0.646675 | 9.70672030066727 | 22.346124926391 | 0.664012175772767 | |||||
rs142754737:43865714:C:T | PROG | -0.0819986161121218 | 0.211789955100937 | 0.698630710424281 | 0.13656 | 0.0627846 | 0.0297984 | -0.600458524546879 | 1.57527191097057 | 0.703071394788774 | |||||
rs139203625:95099865:C:T | PROG | 0.413271076541616 | 0.265077523776824 | 0.118982793781298 | 0.141194 | 0.0754369 | 0.0614656 | 2.92697335964429 | 2.44339042761809 | 0.230950218620072 | |||||
rs72906582:45222771:G:A | PROG | -0.00579780986821912 | 0.0859574434693369 | 0.946223647930365 | 0.0347859 | 0.0256685 | 0.175581 | -0.166671262443091 | 2.47410137811829 | 0.946290030393007 | |||||
rs35695070:7343539:GC:G | TESTO | 0.0604032821161237 | 0.0544104013237991 | 0.266937759077357 | 0.0734806 | 0.0108972 | 1.55046E-11 | 0.822030333395803 | 0.750441002499632 | 0.273343033444352 | |||||
c) WOMEN | Y ~ G | X ~ G | causal estimate per SNP | causal estimate of multiple SNPs | |||||||||||
SNP | top phenotype | beta | se | pval | beta | se | pval | beta | se | pval | beta | se | pval | Q | |
rs9692804:144058625:G:A | ANDRO | 0.0127566862591387 | 0.072697702678018 | 0.860705798341721 | 0.104987 | 0.0269745 | 1.08778E-4 | 0.121507293847226 | 0.693148208278034 | 0.860845710788262 | |||||
rs114341625:112578458:G:A | CORT | 0.156669494314293 | 0.261557115757123 | 0.549181089063222 | -0.142245 | 0.0347362 | 4.221415E-5 | -1.10140598484511 | 1.8583458475294 | 0.553394763903251 | -1.12 | 1.297 | 0.388 | 1 | 2.0E-4 |
rs9989237:94795202:C:T | CORT | -0.0515776397769716 | 0.0827878030307926 | 0.533277866221066 | 0.0452752 | 0.0107792 | 2.66617E-5 | -1.13920291411129 | 1.84855187167548 | 0.537717815991723 | |||||
rs77533229:43479638:G:A | DHEAS | -0.375412319408082 | 0.273732985449094 | 0.170233335435158 | -0.425435 | 0.0604601 | 1.96952E-12 | 0.882419921746169 | 0.655525904180207 | 0.178262151294491 | 0.904 | 0.252 | 3.29502E-4 | 7 | 8.4845 |
rs36139342:119204625:A:AC | DHEAS | -0.0318193495758977 | 0.086583461255834 | 0.713246715759606 | -0.0861025 | 0.0201414 | 1.91231E-5 | 0.369551982531259 | 1.00929485254664 | 0.714254131076025 | Sensitivity (p<1E-5) | ||||
7:99025328:C:T | DHEAS | -0.165938487894232 | 0.192009264325556 | 0.38746635669668 | -0.274535 | 0.0435938 | 3.02335E-10 | 0.604434727427219 | 0.705953053952541 | 0.391888946667579 | 0.929 | 0.311 | 0.003 | 5 | 8.1835 |
rs615567:22319209:A:T | DHEAS | -0.253953147391822 | 0.071517083274306 | 3.83852292271446E-4 | -0.0851216 | 0.016306 | 1.78662E-7 | 2.98341604706469 | 1.01612746270413 | 0.00332404907093074 | |||||
rs28620926:40357171:A:G | DHEAS | 0.128518165065287 | 0.0704225592520256 | 0.0680074700821933 | 0.0847209 | 0.0167034 | 3.93479E-7 | 1.51695939331719 | 0.883398347633749 | 0.0859451682339626 | |||||
rs57159061:81590962:T:C | DHEAS | 0.146670677689889 | 0.135589152130052 | 0.279373095131808 | 0.149075 | 0.0342206 | 1.32287E-5 | 0.983871726915239 | 0.937158005186893 | 0.2937888516159 | |||||
rs296360:48388658:T:C | DHEAS | -0.144932388459594 | 0.0885372407227415 | 0.101637725797464 | -0.142747 | 0.0211364 | 1.44222E-11 | 1.01530952285928 | 0.638198355061262 | 0.111632167295798 | |||||
rs5935876:6922078:G:A | DHEAS | -0.0890213052677835 | 0.0712362960456287 | 0.21142297710377 | -0.188607 | 0.0333804 | 1.60237E-8 | 0.47199364428565 | 0.386824452402858 | 0.222398426183714 | |||||
rs35679777:68034459:CG:C | E2 | 0.0837526513342501 | 0.0722195006569956 | 0.246172682230483 | 0.0741314 | 0.0159642 | 3.42364E-6 | 1.12978645127773 | 1.00413070405135 | 0.260530206770217 | 0.486 | 0.721 | 0.5 | 1 | 0.9642 |
rs17601876:51553909:A:G | E2 | -0.0186602469237363 | 0.068417414460773 | 0.785052170848498 | 0.063851 | 0.0154557 | 3.60851E-5 | -0.292246745136901 | 1.07384932390948 | 0.78550765085982 | |||||
rs145827824:32103749:C:G | OHP17 | -0.477344821783009 | 0.300904810938968 | 0.112656564282082 | 0.797658 | 0.139096 | 1.44797E-8 | -0.598432939659614 | 0.391403241922864 | 0.126278769713995 | |||||
rs79589801:211054061:C:T | PROG | -0.320167290981217 | 0.32966906745283 | 0.331459729733987 | 0.808409 | 0.144331 | 2.13009E-8 | -0.396046173386513 | 0.413884609272533 | 0.338617742471503 | -0.218 | 0.164 | 0.184 | 6 | 2.2212 |
rs139441768:90679263:T:C | PROG | -0.407076282952549 | 0.366064387328069 | 0.266123252383162 | 0.6113884 | 0.1479081 | 3.571708E-5 | -0.665822712620241 | 0.620031201868008 | 0.282888320815405 | |||||
rs10786714:104598606:G:C | PROG | 0.0102342655452454 | 0.0735315065470205 | 0.889306295424472 | -0.0203393 | 0.0359371 | 0.571415 | -0.50317688146816 | 3.72295520515716 | 0.892489140439319 | -0.217 | 0.164 | 0.186 | 5 | 2.2149 |
rs77032081:13363279:C:T | PROG | -0.0601125361418983 | 0.25177063624279 | 0.811292369205915 | 0.704529 | 0.124815 | 1.65582E-8 | -0.0853230117452912 | 0.357679766164052 | 0.811457784583391 | |||||
rs142754737:43865714:C:T | PROG | -0.389737673780823 | 0.302897479825286 | 0.198199464223418 | 0.798375 | 0.138746 | 8.70534E-9 | -0.488163674690244 | 0.388761841992297 | 0.209229023157777 | |||||
rs139203625:95099865:C:T | PROG | -0.0478647113963147 | 0.306973730169735 | 0.87609256922628 | 0.742308 | 0.145465 | 3.34319E-7 | -0.0644809316298824 | 0.413732571216016 | 0.876149904331697 | |||||
rs72906582:45222771:G:A | PROG | 0.0255585912197558 | 0.115042621806972 | 0.824184443567902 | 0.318619 | 0.0551308 | 7.50028E-9 | 0.0802167831163735 | 0.361333105227659 | 0.824312087071362 | |||||
rs35695070:7343539:GC:G | TESTO | -0.0343655398784383 | 0.0727484701477667 | 0.636649519249272 | -0.00266917 | 0.0173836 | 0.877968 | 12.87499105656 | 88.1697260235245 | 0.88390159180809 |