SNP | Position | Alleles | MAF | Distance | Dprime | FORGEdba | RegulomeDBb |
|---|
rs9989554 | chr18:2571846 | (A/G) | 0.23 | 12,412 | 0.98 | 9 | 4 |
rs16943442 | chr18:2535245 | (C/T) | 0.12 | -19,591 | 1 | 9 | 3a |
rs9948895 | chr18:2555922 | (A/G) | 0.36 | -2004 | 0.99 | 8 | 3a |
rs2138848 | chr18:2560519 | (C/A) | 0.30 | 0 | 1 | 8 | 4 |
rs80010836 | chr18:2569985 | (T/A) | 0.11 | -5214 | 1 | 5 | 3a |
- 5 SNPs with high regulatory potentials were selected by securing FORGEdb and RegulomeDB. SNPs with potential regulatory effects were marked in bold
- 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
- 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
