Table 3.
The 18 variants from the 8 regions with consistent high resolution fine-mapping
Gene | SNP | Chr | Positiona | Posterior | GERP | Functional Annotationb |
---|---|---|---|---|---|---|
TNFSF14 | rs1077667 | 19 | 6668972 | 0.74 | -3.89 | intronic, TFBS / DNase1 peak, correlates with serum levels of TNFSF14 |
IL2RA | rs2104286 | 10 | 6099045 | 0.93 | -0.47 | intronic, correlates with soluble IL-2RA levels |
TNFRSF1A | rs1800693 | 12 | 6440009 | 0.69 | 2.53 | intronic, causes splicing defect and truncated soluble TNFRSF1A |
rs4149580c | 12 | 6446990 | 0.10 | 2.06 | intronic | |
IL12A | rs1014486 | 3 | 159691112 | 0.67 | 0.24 | - |
CD6 | rs34383631 | 11 | 60793330 | 0.20 | 1.66 | - |
rs4939490c | 11 | 60793651 | 0.14 | -0.53 | - | |
rs4939491c | 11 | 60793722 | 0.14 | -0.37 | - | |
rs4939489 | 11 | 60793648 | 0.10 | 3.25 | - | |
TNFAIP3 | rs632574 | 6 | 137959118 | 0.27 | -1.15 | - |
rs498549c | 6 | 137984935 | 0.20 | 0.52 | - | |
rs651973 | 6 | 137996134 | 0.17 | 2.41 | downstream of RP11-95M15.1 lincRNA gene | |
rs536331 | 6 | 137993049 | 0.15 | 0.19 | upstream of RP11-95M15.1 lincRNA gene | |
CD58 | rs6677309 | 1 | 117080166 | 0.21 | -1.18 | intronic, TFBS / DNase1 peak |
rs35275493c | 1 | 117095502 | 0.24 | 0.75 | intronic (insertion) | |
rs10754324c | 1 | 117093035 | 0.22 | 0.32 | intronic | |
rs1335532 | 1 | 117100957 | 0.17 | -1.32 | intronic | |
STAT4 | rs78712823 | 2 | 191958581 | 0.59 | -3.98 | intronic |
All listed variants have posterior ≥ 0.1 in regions where ≤ 5 variants explain the top 50% of the posterior and the top SNP from the frequentist analysis lives in the 90% confidence interval, ordered by maximum posterior.
Posterior denotes the posterior probability of any variant driving association. GERP denotes Genomic Evolutionary Rate Profiling.
Position is based on human genome 19 and dbSNP 137.
Functional data from VEP, eQTL browser, Fairfax et al. (2012), pubmed searches, 1000G. Dash indicates intergenic with no additional annotation. Variants without annotation are intergenic and have no reported regulatory consequence.
Imputed variant.