Table 2 Functional annotations of the lead signal IL12B rs755374 and its proxies in the European populations of the 1000 genomes project.
SNP | Position in Chr5 (GRCh37) | Change | LD (r2/D’) | GRASP QTL hits | Functional annotations in immune cells | GWAS hits | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H3K4me1 | H3K4me3 | DNAse peaks | Associated condition | P-value | OR | Population | Case/Control | Strategy | Ref | |||||
rs6871626 | 158,826,792 | A < C | 0.91/0.97 | YES | NO | NO | NO | UC | 1.11E-21 | 1.17 | European | 16,315/32,635 | Meta GWAS | |
IBD | 1.00E-42 | 1.18 | European | 32,628/29,704 | Meta GWAS + iChip | |||||||||
AS | 3.10E-02 | 1.12 | Han Chinese | 400/395 | Candidate gene | |||||||||
TAK | 1.70E-13 | 1.75 | Japanese | 379/1,985 | Exome GWAS | |||||||||
Leprosy | 3.95E-18 | 0.75 | Chinese | 4,971/5,503 | Candidate gene | |||||||||
rs56167332 | 158,827,769 | A < C | 0.94/0.99 | NO | NO | NO | NO | IBD | 7.00E-50 | 1.17 | European and Asian | 42,950/53,536 | GWAS + iChip | |
CD | 2.00E-41 | 1.19 | European and Asian | 22,575/46,693 | GWAS + iChip | |||||||||
UC | 7.00E-27 | 1.15 | European and Asian | 20,417/52,230 | GWAS + iChip | |||||||||
TAK | 2.18E-08 | 1.54 | North American and Turkish | 451/2,393 | iChip | |||||||||
rs755374 | 158,829,294 | A < G | NA | NO | YES | NO | NO | NA | NA | NA | NA | NA | NA | NA |
rs4921492 | 158,832,277 | A < C | 0.90/0.99 | NO | YES | YES | YES | Sarcoidosis | 2.14E-09 | 1.20 | European | 1,726/5,482 | iChip | |
