From: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population
Gene | SNP | Chromosome | Physical location | Alleles | MAF-Case | MAF-Control | HWE-p | OR (95%CI) | p | HaploReg v4.1 | RegulomeDB | FuncPred |
---|---|---|---|---|---|---|---|---|---|---|---|---|
RAD54L2 | rs11720298 | 3 | 51,547,493 | A/G | 0.25 | 0.28 | 0.229 | 0.86 (0.70–1.05) | 0.127 | Selected eQTL hits | TF binding + DNase peak | |
rs4687721 | 3 | 51,564,238 | A/G | 0.07 | 0.07 | 0.747 | 0.99 (0.71–1.39) | 0.972 | Promoter histone marks, Enhancer histone marks, Motifs changed, Selected eQTL hits | TF binding + any motif + DNase peak | ||
rs4687592 | 3 | 51,621,840 | C/T | 0.34 | 0.33 | 0.159 | 1.07 (0.89–1.28) | 0.490 | Enhancer histone marks, DNAse, Proteins bound, Selected eQTL hits | TF binding + DNase peak | ||
rs9864693 | 3 | 51,622,354 | C/G | 0.45 | 0.42 | 0.856 | 1.10 (0.92–1.31) | 0.293 | SiPhy cons, Promoter histone marks, Enhancer histone marks, Motifs changed, Selected eQTL hits | TF binding or DNase peak | ||
GTF2H1 | rs4150530 | 11 | 18,322,147 | G/T | 0.10 | 0.12 | 0.831 | 0.84 (0.63–1.11) | 0.219 | Promoter histone marks, DNAse, Proteins bound, Motifs changed, Selected eQTL hits | TF binding + any motif + DNase Footprint + DNase peak | TFBS, Splicing |
rs3802967 | 11 | 18,322,517 | A/G | 0.46 | 0.48 | 0.479 | 0.92 (0.77–1.09) | 0.323 | SiPhy cons, Promoter histone marks, DNAse, Proteins bound, Motifs changed, Selected eQTL hits | TF binding + matched TF motif + matched DNase Footprint + DNase peak | TFBS | |
rs4150606 | 11 | 18,342,022 | A/C | 0.13 | 0.14 | 0.591 | 0.91 (0.71–1.18) | 0.485 | Motifs changed, Selected eQTL hits | Motif hit | ||
rs4150658 | 11 | 18,357,336 | A/G | 0.10 | 0.12 | 1.000 | 0.85 (0.64–1.12) | 0.253 | Motifs changed, Selected eQTL hits | TF binding or DNase peak | ||
rs4150667 | 11 | 18,361,364 | C/T | 0.33 | 0.32 | 0.919 | 1.05 (0.87–1.27) | 0.583 | DNAse, Motifs changed, Selected eQTL hits | TF binding + DNase peak |