Figure 2.

Associated signals within the TERT gene. Peak regions described in the text are labeled: Peaks 2 and 3 overlap around introns 2–4, and Peak 1 encompasses the promoter. The positions of associated SNPs are shown as black and red ticks representing genotyped and imputed SNPs, respectively. The TERT gene structure is depicted with exons (boxes) joined by introns (lines). The positions of all analyzed iCOGS SNPs are marked. Data from the UCSC genome browser including epigenetic marks for H3K4Me1 and H3K4Me3, ESPERR regulatory potential, and vertebrate conservation tracks are shown. Regions cloned into reporter constructs are depicted as the green bar (TERT promoter) or blue bars (PRE-A and PRE-B). The pattern of linkage disequilibrium based on the BCAC population is shown where white represents r²=0 and black r²=1.