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Table 1 Polymorphisms in the IRF5 locus screened by functional tests.a

From: Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies

Polymorphism Position Gene Alleles MAF Selection criteriab EMSA Reporter
rs4731530 128562578 5' IRF5 C > T 39.9 Hap -  
rs6950728 128565661 5' IRF5 G > A 30.9 r2 = 0.97 -  
rs11982901 128566754 5' IRF5 C > T 31.6 r2 = 0.97 -  
rs4728141 128567032 5' IRF5 C > T 49.5 Hap -  
rs13245639 128567810 5' IRF5 C > T 31.6 r2 = 0.97 + +
rs729302 128568960 5' IRF5 A > C 31.1 r2 = 1.0 -  
rs729068 128569561 5' IRF5 C > T 31.1 r2 = 0.9 -  
rs12706860 128570026 5' IRF5 C > G 33.7 r2 = 0.83 + +
rs7808659 128570238 5' IRF5 C > A 30.4 r2 = 0.9 -  
rs754284 128571478 5' IRF5 C > G 31.6 r2 = 0.87 -  
rs4728142 128573967 5' IRF5 G > A 47.8 Hap -  
rs7801838 128573994 5' IRF5 C > T 28.9 r2 = 0.73 -  
rs3778754 128575552 5' IRF5 G > C 48.9 Hap + -
rs11269962 128575812 5' IRF5 ins > del 48.9 RNA-seq + +
rs3757388 128576023 5' IRF5 A > G 33.3 Hap -  
rs3757387 128576086 5' IRF5 T > C 49.4 Hap -  
rs3757385 128577304 5' IRF5 G > T 33.3 Hap -  
rs3807135 128577617 5' IRF5 C > T 33.0 Hap -  
CGGGG indel 128577931 5' IRF5 del > ins 48.4 Known cis-eQTL + +
rs3807307 128579202 IRF5 C > T 47.8 Hap + -
rs3823536 128579666 IRF5 A > G 47.8 Hap -  
rs3778753 128580042 IRF5 G > A 47.8 Hap -  
rs3778752 128580047 IRF5 T > G 47.8 Hap -  
rs3778751 128580048 IRF5 T > A 47.8 Hap -  
rs3807306 128580680 IRF5 T > G 45.7 Hap/microarray -  
rs17424179 128657995 TPNO3 G > A 3.8c Microarray + -
  1. aThe polymorphisms' genomic position, relation to genes, alleles, minor allele frequency (MAF), criteria of selection and results of the electrophoretic mobility shift assay (EMSA) and reporter gene assays are shown. bSelection criteria were hap = concordance of the minor allele with the minor allele of rs729302 in most haplotypes; r2 = level of genotype correlation with rs729302; RNA-seq = polymorphism most associated with RNA-seq data; microarray = specially associated single-nucleotide polymorphisms in microarray expression analysis. cFrequency from HapMap (Hap) CEPH (Utah residents with ancestry from northern and western Europe: CEU) individuals. eQTL = expression quantitative trait loci.