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. 2022 Dec 16;20:400. doi: 10.1186/s12957-022-02868-9

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