Results of the HaploReg query and genomic architecture of the 2q35 risk locus.

(A) Part of the HaploReg result for rs7349332. (B) The putative WNT10A promoter element (1,641 bp) is located 434 bp upstream of the WNT10A start codon. Rs7349332, located in the third intron of WNT10A, is in high linkage disequilibrium (LD, r² = 0.96) with rs3856551 located in the first intron of WNT10A and within an annotated EBF1 binding site (BS). Computational in silico analyses predicted a motif similarity score (MSS) of 66% for the MPB non-risk allele (rs3856551-C) and 71% for the risk allele rs3856551-T, suggesting higher binding affinity of EBF1 with the risk allele.