Figure 2: Chromosome 20p11.22 regional association plot.
From: A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
−Log 10 (P-value) of association with IS is plotted versus chromosomal position for each genotyped SNP for the second-stage GWAS (GWAS II). Each SNP is colour coded to reflect relative correlation (r2 value) with major SNP rs6137473 (purple dot). A physical map of the associated region is shown below the x-axis. The summary statistic P-value for the combined TSRHC GWAS (stages I and II) was calculated for the interval encompassed by yellow dotted lines as described in the text. This P-value is depicted by the black circle. Detailed view (shown below) of sequence conservation in the region highlighted in purple. Custom UCSC genome browser view with hg19 chromosome 20 positions of PEC and Xe1 sequence blocks and genotyped SNPs is shown. In the layered H3K27ac ENCODE track, the green represents HSMM (human skeletal muscle myoblast) cells.
