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Table 2 The information of nine gene polymorphisms on the RAD54L2 and GTF2H1 gene

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

 
  1. SNP Single nucleotide polymorphism, MAF Minor allele frequency, HWE Hardy-Weinberg equilibrium, eQTL expression Quantitative Trait Loci, TF Transcription factor, TFBS Transcription factor binding site
  2. Haploreg (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php); RegulomeDB (https://regulome.stanford.edu/regulome-search/); FuncPred (https://manticore.niehs.nih.gov/snpinfo/snpfunc.html)
  3. p values were calculated by χ2 test