Figure 2
Figure 2. Regional plots of association results, recombination rates, and chromatin state segmentation track for (A) 10p12.2 and (B) 10p14 susceptibility loci. The top panel shows the association results of both genotyped (triangles) and imputed (circles) SNPs in the GWAS samples and recombination rates for rates within the two loci. For each plot, −log10 P values (y-axis) of the SNPs are shown according to their chromosomal positions (x-axis). The top genotyped SNP in each combined analysis is a large triangle and is labeled by its reference SNP ID. The color intensity of each symbol reflects the extent of LD with the top genotyped SNP: white (r2 = 0) through to dark red (r2 = 1.0). Genetic recombination rates (cM/Mb), estimated using HapMap CEU samples, are shown with a light blue line. Physical positions are based on National Centre for Biotechnology Information build 36 of the human genome. Also shown are the relative positions of genes and transcripts mapping to each region of association. Genes have been redrawn to show the relative positions; therefore, maps are not to physical scale. The lower panel shows the gene of interest together with all transcripts of the gene showing exons and introns; observed SNP and any imputed SNPs showing a stronger association with ALL risk, chromatin state segmentation track (ChromHMM), and phastCons score values corresponding to the posterior probability associated with a phylogenetic hidden Markov model (HMM) inferring the most conserved state at a given base position.

Regional plots of association results, recombination rates, and chromatin state segmentation track for (A) 10p12.2 and (B) 10p14 susceptibility loci. The top panel shows the association results of both genotyped (triangles) and imputed (circles) SNPs in the GWAS samples and recombination rates for rates within the two loci. For each plot, −log10P values (y-axis) of the SNPs are shown according to their chromosomal positions (x-axis). The top genotyped SNP in each combined analysis is a large triangle and is labeled by its reference SNP ID. The color intensity of each symbol reflects the extent of LD with the top genotyped SNP: white (r2 = 0) through to dark red (r2 = 1.0). Genetic recombination rates (cM/Mb), estimated using HapMap CEU samples, are shown with a light blue line. Physical positions are based on National Centre for Biotechnology Information build 36 of the human genome. Also shown are the relative positions of genes and transcripts mapping to each region of association. Genes have been redrawn to show the relative positions; therefore, maps are not to physical scale. The lower panel shows the gene of interest together with all transcripts of the gene showing exons and introns; observed SNP and any imputed SNPs showing a stronger association with ALL risk, chromatin state segmentation track (ChromHMM), and phastCons score values corresponding to the posterior probability associated with a phylogenetic hidden Markov model (HMM) inferring the most conserved state at a given base position.

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