Figure 2.

The chromosome 1 locus tagged by rs12405132 a) The Manhattan Plot displays the strength of genetic association (−log₁₀ P) versus chromosomal position (Mb), where each dot presents a genotyped (solid black dot) or imputed (red circle) SNP (in the iCOGS stage). The purple horizontal line represents the threshold for genome-wide significance (P=5×10⁻⁸). Gene structures are depicted as well as the location of SNPs with MAF>0.01 which were neither imputed reliably nor genotyped. b) Mammary cell enhancer locations as defined in Corradin et al.³², and Hnisz et al.³³, are shown where elements overlapping the best associated SNPs are labelled with their predicted target genes. A subset of ChiA-PET interactions in MCF7 cells (mediated by either RNApolII or ERa) between enhancers and their target gene promoters are also shown.