Fig. 3
Regional association results (top), LD plots (middle and bottom) and functional annotation for new hypospadias susceptibility region at 12q13.13. (a) For regional plots, genomic coordinates are shown on the x axis (hg19/GRCh37), P values for the association analysis are plotted as –log10P against chromosomal position on the left y axis. P value of rs11170516 was calculated based on the combined three stage results. Both genotyped and imputed SNPs are shown. The right y axis represents the recombination rate estimated from 1000 Genomes Project ASN data. (b) LD heat maps based on D′ values using CHB genotypes from the 1000 Genomes Project (Phase 3) according to Ensembl annotations. (c) rs11170516 affected SP1 expression by the UCSC browser