Table 2.

Information and function annotation of SNPs in CYP19A1 and CYP1A2

Gene	SNP	Chromosome	Position	Allele A/B	Role	MAF		p-HWE	ORs (95% CI)	P	RegulomeDB Rank
						Case	Control
CYP19A1	rs4646	15	51,210,647	A/C	Intron	0.314	0.291	0.669	1.12(0.92–1.35)	0.257	5
CYP19A1	rs6493487	15	51,221,532	G/A	Intron	0.288	0.265	0.734	1.12(0.93–1.37)	0.236	6
CYP19A1	rs1062033	15	51,255,741	G/C	5′ UTR	0.432	0.448	0.110	0.94(0.79–1.12)	0.464	5
CYP19A1	rs17601876	15	51,261,712	A/G	Intron	0.341	0.334	0.921	1.03(0.86–1.24)	0.743	7
CYP19A1	rs3751599	15	51,281,336	A/G	Intron	0.058	0.074	1	1.07(0.54–1.09)	0.139	2b
CYP1A2	rs762551	15	74,749,576	C/A	Intron	0.402	0.414	0.928	0.95(0.80–1.14)	0.595	5
CYP1A2	rs2470890	15	74,755,085	T/C	Coding sequence	0.121	0.115	0.187	1.07(0.81–1.39)	0.646	1f

SNP single nucleotide polymorphism, MAF minor allele frequency, HWE Hardy-Weinberg Equilibrium, OR odds ratio, 95% CI 95% confidence interval

Rank 1f, eQTL + TF binding / DNase peak; Rank 2b, TF binding + any motif + DNase Footprint + DNase peak; Rank 5, TF binding or DNase peak; Rank 6–7, other