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. 2023 Dec 1;23:1177. doi: 10.1186/s12885-023-11477-y

Table 2.

The basic information and HWE about the selected SNPs of CYP4B1

SNP ID Chr: position Alleles Function MAF HWE
(p value)
Haploreg4.1 RegulomeDB
Cases Controls
rs2297813 1:46799052 G/T 5’-UTR 0.142 0.133 0.469 Promoter histone marks; Enhancer histone marks; DNAse; Motifs changed; Selected eQTL hits eQTL/caQTL + TF binding + any motif + Footprint + chromatin accessibility peak
rs12142787 1:46800918 G/A intronic 0.255 0.234 0.295 Promoter histone marks; Enhancer histone marks; Motifs changed; GRASP QTL hits Selected eQTL hits eQTL/caQTL + TF binding + any motif + Footprint + chromatin accessibility peak
rs3766197 1:46816155  C/T intronic 0.167 0.166 0.762 Proteins bound; Motifs changed; GRASP QTL hits; Selected eQTL hits eQTL/caQTL + TF binding / chromatin accessibility peak

p < 0.05;

SNP: Single nucleotide polymorphism; Chr: Chromosome; MAF: Minor allele frequency; HWE: Hardy-Weinberg.

HaploReg v4.1 (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php), RegulomeDB (https://regulome.stanford.edu/regulome-search/)