Table 2.

Regulation potentials of risk alleles of MMP9 gene SNP

RS_Number	Position	Alleles	MAF	Distance	Dprime	R2	Correlated_Alleles	FORGEdba	RegulomeDBb	Function
rs3918262	chr20:44643770	(A/G)	0.370	4989	1.000	0.332	A = A, G = G	8	2b	NA
rs17577	chr20:44643111	(G/A)	0.168	4330	0.166	0.010	NA	10	2b	missense
rs3918251	chr20:44638781	(A/G)	0.361	0	1.000	1.000	A = A, G = G	8	4	NA
rs2250889	chr20:44642406	(G/C)	0.250	3625	1.000	0.591	G = A, C = G	8	4	missense
rs3918254	chr20:44640391	(C/T)	0.188	1610	0.929	0.112	C = A, T = G	9	4	NA
rs9509	chr20:44645153	(T/C)	0.221	6372	0.478	0.037	NA	8	6	NA

5 SNPs with high regulatory potentials were selected by securing FORGEdb and RegulomeDB. SNPs selected for subsequent analyses were marked in bold

Abbreviations: MAF Minor Allele Frequency, MAF was presented as (MAF in cases)/(MAF in controls), Dprime SNP haplotype frequency, R2 SNP correlation, Correlated alleles refer to alleles that are correlated if linkage disequilibrium is present (R2 > 0.1). rs3918251 was used as reference SNP

^aFORGEdb scores indicated the regulatory potentials for SNPs (https://forge2.altiusinstitute.org/files/forgedb.html). FORGEdb scores of from 0 to 10 and higher scores indicate greater likelihood that the SNP is a regulatory variant

^bRegulomeDB scores indicated the regulatory potentials for SNPs (https://regulomedb.org/regulome-search). RegulomeDB scores of 1–6 indicate most to least likely to affect binding and expression of target gene. A score 2b denotes that the SNP was within a potential regulatory region supported by TF binding, binding motif, DNase Foorprint, and DNase peak data