Figure 1

Effect of genotype at rs6749447 on allelic expression ratio of the transcribed SNP rs1061471. Circles represent allelic expression ratio for each individual, with horizontal bars representing the mean values for each group (shown alongside). The first column shows genomic DNA where the alleles are present in a 1:1 ratio, giving a mean ratio of approximately 1. The second column shows individuals who are homozygous for either allele of rs6749447. In this group, the cis-acting influence on expression from each allele is the same, giving a mean allelic expression ratio of approximately 1 at the transcribed marker rs1061471 (P > 0.05 for the comparison with genomic DNA). The third column shows individuals who are heterozygous for rs6749447. In this group each of the two transcribed alleles is expressed at a different level, causing increased imbalance in allelic expression (P < 0.005 for the comparisons with genomic DNA and individuals homozygous for rs6749447).