Table 4 In silico predictions for the significantly associated variants replicated in this study
Reference | Locus | SNP | Annotated Gene (RefSeq) | Annotated Gene (GENCODE) | No. of SNPs with r2 > 0.8 | Promoter Histone Marks | Enhancer Histone Marks | DNAse | Motifs changed | eQTLhits | RelevanteQTL tissue1(Correlatedgene) | Relevant P-value of eQTL1 | Relevant eQTL tissue2 (Correlated gene) | Relevant P-value of eQTL2 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Diouf | 14q21.1 | rs8014839 | FBXO33 | CTAGE5 | 3 | 8 tissues (Brain) | 13 tissues (Brain) | Skin, Liver, MUS, VAS | 2 altered motifs | 4 hits | Blood (CTAGE5) | 4.68 × 10−54 | Blood (TRAPPC6B) | 2.80 × 10−43 |
Diouf | 4q28.1 | rs4618330 | INTU | RP11-123G5.1 | 11 | MUS | 12 altered motifs | – | – | – | ||||
Baldwin | 3q27.3 | rs1903216 | BCL6 | RP11-44H4.1 | 1 | GI | 5 tissues | 5 altered motifs | – | – | – | |||
Diouf | 3p14.2 | rs35558909 | FHIT | FHIT | 2 | ESDR, Blood | 6 altered motifs | – | – | – | ||||
Diouf | 3p21.1 | rs4687753 | IL17RB | IL17RB | 49 | Breast | ESDR, Blood, Brain | 8 altered motifs | 53 hits | Tibial nerve (ACTR8) | 1.78 × 10−12 | Tibial nerve (CHDH) | 1.06 × 10−7 | |
Diouf | 8q24.12 | rs7817522 | DEPTOR | DEPTOR | 11 | IPSC, Fat, GI | GI, Brain | ESDR, MUS | 1 altered motifs | 5 hits | Brain (DEPTOR) | 8.06 × 10−6 | Esophagus Muscularis (DEPTOR) | 6.43 × 10− 7 |
Schneider | 15q21.3 | rs2062640 | UNC13C | UNC13C | 23 | – | – | – | – | – | ||||
Diouf | 2q33.3 | rs11694118 | LOC100507443 | snoU13 | 27 | STRM | Placenta, Brain | 1 altered motifs | ||||||
Diouf | 5q23.2 | rs6891783 | ZNF608 | CTD-2308B18.3 | 38 | IPSC, Lung, Brain | STRM, Fat, MUS, THYM | Lung | 2 altered motifs | – | – | – | – | – |