Table 2. LD for GWAS significant SNPs with functional proxies.
GWAS significant SNP | Functional Proxy SNPs# | r2 threshold | RegulomeDB Score* |
---|---|---|---|
MYO1D/rs17183295 | rs10512441 | 0.9 | 1a |
rs17183628 | 0.9 | 1d | |
rs17781142 | 0.9 | 1f | |
TJP2/rs11145746 | rs1538583 | 1.0 | 1b |
rs11145326 | 0.8 | 1f | |
rs11145488 | 1.0 | 1f | |
BLOC1S1 & RDH5/rs3138142 | rs3138142 | 1.0 | 1d |
BLOC1S1 & RDH5/rs3138144 | rs3138144 | 1.0 | 1f |
C4BPAP2/CD55/rs1652333 | rs1652333 | 1.0 | 1f |
rs2802236 | 1.0 | 1b | |
rs2564974 | 1.0 | 1b | |
rs2564978 | 1.0 | 1b | |
rs12095015 | 1.0 | 1d | |
rs6700168 | 1.0 | 1d | |
rs1346720 | 0.8 | 1f | |
rs7545125 | 1.0 | 1f | |
rs1572275 | 1.0 | 1f | |
rs4844592 | 1.0 | 1f | |
rs10864231 | 1.0 | 1f | |
rs1507758 | 1.0 | 1f | |
rs1507760 | 1.0 | 1f | |
CNDP2/rs12971120 | rs12971120 | 1.0 | 1f |
rs8084410 | 0.9 | 1b | |
rs11151960 | 0.8 | 1d | |
rs747176 | 0.8 | 1f | |
rs3764509 | 0.9 | 1f | |
rs12605820 | 0.8 | 1f | |
rs2303463 | 0.8 | 1f | |
rs4891557 | 0.8 | 1f | |
rs4891559 | 0.9 | 1f | |
rs3829640 | 1.0 | 1f | |
rs2278161 | 1.0 | 1f | |
rs2278159 | 0.8 | 1f | |
rs2278158 | 0.8 | 1f | |
rs734559 | 1.0 | 1f | |
rs3794950 | 0.8 | 1f |
#GWAS significant SNPs with regulatory potential are bolded, *RegulomeDB score are confined to the range 1a–f.