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/)