Fig. 4

Regional plots of association with survival (OS or DFS) at stage-1 meta-analysis, recombination rate and gene context for the most significant SNPs. Results from the stage-1 meta-analyses in a region surrounding the most significant SNP associated with DFS in patients with early onset (a, rs715212 and rs10963755), DFS in all patients (b, rs12302097) and OS in all patients (c, rs410155). In each plot, a purple diamond identifies the index SNP and the colour of other SNPs represent their linkage disequilibrium (r 2) with the index SNP from light blue (r 2 ≤ 0.4) to red (r 2 ≥ 0.8). The middle panel displays the 15 state chromatin segmentation track (ChromHMM) in breast variant human mammary epithelial cells (vHMECs, E028), mammary epithelial primary cells (HMECs, E119) and breast myoepithelial primary cells (E027) using data from the HapMap ENCODE Project. The lower panels show genes and their direction of transcription (arrows). Physical positions are relative to build 37 (hg19) of the human genome