Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease

BMC Medical Genomics

Table 2 The basic information and HWE about the candidate SNPs of CYP4A22.

SNP ID	Function	Chr: Position	Alleles (A/B)	MAF		AF			HWE (P Value)	dbSNP func annot	HaploReg v4.1	RegulomeDB	Polyphen
SNP ID	Function	Chr: Position	Alleles (A/B)	Cases	Controls	CHB	AFR	EUR	HWE (P Value)	dbSNP func annot	HaploReg v4.1	RegulomeDB	Polyphen
rs76011927	missense variant	1: 47,137,516	T/C	0.063	0.064	0.058	-	0.006	0.436	R (Arg) > C (Cys)	Promoter histone marks, Enhancer histone marks, Motifs changed	TF binding + chromatin accessibility peak	BENIGN
rs12564525	missense variant	1: 47,141,609	C/T	0.398	0.444	0.602	0.225	0.206	0.519	R (Arg) > W (Trp)	Motifs changed, Selected eQTL hits	eQTL/caQTL + TF binding / chromatin accessibility peak	BENIGN
rs2056900	missense variant	1: 47,142,113	A/G	0.527	0.478	0.539	0.207	0.193	0.315	G (Gly) > S (Ser)	Motifs changed, Selected eQTL hits	eQTL/caQTL + TF binding / chromatin accessibility peak	BENIGN
rs4926581	missense variant	1: 47,143,311	T/G	0.520	0.480	0.539	0.206	0.193	0.171	V (Val) > I (Ile)	-	eQTL/caQTL + TF binding / chromatin accessibility peak	BENIGN

A: minor allele; B: wild-type allele; SNP: Single nucleotide polymorphisms; MAF: minor allele frequency; AF: allele frequency; CHB: Han Chinese in Beijing, China; EUR: European; AFR: African; HWE: Hardy–Weinberg equilibrium; TF: transcription factor
HWE P value > 0.05 indicates that the genotypes were in Hard-weinberg Equilibrium
‘-’: data missing
dbSNP (https://www.ncbi.nlm.nih.gov/snp/), Haploreg (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php); RegulomeDB (https://regulome.stanford.edu/regulome-search/); Polyphen (http://genetics.bwh.harvard.edu/pph2/)

ISSN: 1755-8794