Figure 2: Region association plot of rs2238126 at 12p13.2 for colorectal cancer.
From: Common genetic variation in ETV6 is associated with colorectal cancer susceptibility
In the top panel of the region plot, the association results (−log10 P) of both genotyped (circle) and imputed (diamond) SNPs in the GWAS samples are shown for SNPs in the region 400 kb upstream and downstream of rs2238126. Imputation was performed on this region using the 1,000 Genomes Project CHB and JPT data as a reference. The genes within the region of interest are indicated by arrows. The right y axis represents the recombination rate between the SNPs. The LD plots (D’ and r2) estimated based on the CHB and JPT populations are shown in the middle panel. The bottom panel represents the chromatin state segmentation track (ChromHMM) from GM12878 lymphoblastoid cells.
