Table 2.
Basic information of candidate SNPs CYP19A1
| SNP ID | Chr | Position | Alleles A/B | MAF | p-HWE† | Heterozygosity | p‡ | OR (95%CI) | HaploReg | RegulomeDB | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Control | ||||||||||
| rs28757157 | Chr15 | 51,253,204 | T/C | 0.215 | 0.174 | 0.144 | 0.309 | 0.025 | 1.30 (1.03–1.64) | Enhancer histone marks, motifs changed, selected eQTL hits | TF binding + DNase peak |
| rs3751592 | Chr15 | 51,314,381 | C/T | 0.133 | 0.112 | 0.999 | 0.199 | 0.172 | 1.21 (0.92–1.59) | Promoter histone marks, enhancer histone marks, DNAse, motifs changed, selected eQTL hits | TF binding + DNase peak |
| rs3751591 | Chr15 | 51,314,513 | G/A | 0.137 | 0.133 | 0.840 | 0.235 | 0.798 | 1.04 (0.80–1.35) | Promoter histone marks, enhancer histone marks, DNAse, motifs changed | TF binding + DNase peak |
| rs59429575 | Chr15 | 51,314,880 | T/C | 0.172 | 0.139 | 0.248 | 0.228 | 0.052 | 1.28 (1.00–1.64) | Promoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changed | TF binding or DNase peak |
SNP single-nucleotide polymorphism, MAF minor allele frequency, OR odds ratio, 95%CI 95% confidence interval
Bold values indicate statistical significance (p < 0.05)
†HWE p values were calculated from two-sided χ2 test
‡p values were calculated from two-sided χ2 test