Figure 1
From: Functional annotation of HOT regions in the human genome: implications for human disease and cancer
GWAS SNPs in development-specific HOT regions during haematopoiesis.
(A) Distributions of the number of cell types, from 1 to 154 (y axis), in which SNPs and their corresponding phenotypic traits localised within HOT regions (red) and LOT regions (blue) (x axis) were observed. The width of each shape at a given y value indicates the relative frequency of SNPs and phenotypic traits within HOT and LOT regions in that number of cell types. (B,C) SNP composition of developing hematopoietic HOT regions. (B) Increased (black) versus decreased (red) numbers of SNPs mapping to HOT regions during hematopoietic developmental transitions are shown. (C) Schematic illustration of the number of SNPs that map to inherited versus acquired HOT regions during hematopoietic developmental transitions. The lymphoid HOT region compartment coloured orange constitutes a strict subset of the hematopoietic progenitor HOT region compartment. (D) Preferential extinction of common SNPs that map to HOT regions during development. Comparison of SNPs that map to acquired (left) or lost (right) HOT regions during differentiation of hematopoietic progenitors. See also Fig. S1 and Tables S1–S2.
