Table 7.
Summary of HaploReg results for the three discovery SNPs and the two conditional SNPs
| SNP | Gene | Functional effect | Chromatin state in liver tissue | Proteins bound in liver cell lines | Transcription factor binding motifs changed |
|---|---|---|---|---|---|
| rs780094 | GCKR | intron | Enhancers | FOXA2; MAFK; RXRA | AP-1; DBP; Foxi1; HNF4; Maf; Myf; RP58; TCF12; p300 |
| rs710446 | KNG1 | missense; intron | Enhancers; Genic enhancers | – | AIRE; AP-1; CCNT2 |
| rs76438938 | KNG1 | nonsense | Enhancers; Flanking Active TSS | – | GLI; LF-A1 |
| rs4253417 | F11 | intron | – | – | Gfi1 |
| rs4253421 | F11 | intron | Enhancers | – | CHOP::CEBPalpha; NF-kappaB; RREB-1; Smad |