Functional SNP rs7163757. Multiple sources of evidence indicate that SNP rs7163757 is functional. (A) Overview of the region between genes C2CD4A and C2CD4B. (Blue vertical line) Functional SNP rs7163757; (green vertical line) lead SNP rs7172432. Multiple ChIP-seq and DNase-seq peaks can be seen, including one that overlaps rs71763757. (B) Vicinity of functional SNP rs7163757. ChIP-seq binding is observed for multiple transcription factors in multiple cell lines. Due to space, DNase peaks are represented only for a subset of the peaks overlapping the region. (C) Sequence around rs7163757 and motif for the NFAT binding site that overlaps the functional SNP. The minor allele is T. (D) Linkage disequilibrium region between the functional SNP and the lead SNP in the HapMap 2 CEU population. The two SNPs are in perfect LD (r2 = 1.0). (E) Haplotypes between the functional SNP and the lead SNP. There is a single haplotype with frequency above 1% that carries the identified risk allele (A at rs7172432), whereas there are multiple haplotypes that include the protective allele. Haplotypes with frequency of <1% are not shown.
