Figure 2.
Figure 2. Regional association plot showing donor SNP associations with sST2 concentrations in plasma and serum and LD structure of the IL1RL1 region. (A) Genomic positions of SNPs are shown in mega-bases on the x-axis with mapped genes labeled by their HGNC symbols. –log10 P values obtained from linear regression models of donor SNPs on log-transformed sST2 concentrations in serum and plasma are shown on the left y-axis. The shape of the data point indicates the regulatory effect of the SNP; line color of the shape denotes associations from previous studies, where blue and green show genome-wide association with a trait and multiple effects (GWAS hit or association with gene expression or methylation levels), respectively. These colors indicate that a majority of the associated SNPs showed a direct regulatory effect on a transcript, indicating the denoted region contained multiple eQTL. Fill color for each SNP indicates the r2 with the sentinel SNP, rs950880 (our most significant SNP-sST2 association), shown in a yellow-red gradient, with yellow indicating low LD (r2 < 0.2) and red, high LD (r2 > 0.8). Blue line coupled with the right y-axis shows the recombination rate in centi-Morgan (cM) per megabase. (B) Pairwise-LD heatmap of the region showing pairwise r2 between SNPs. Brighter red indicates stronger correlation between SNP pairs.

Regional association plot showing donor SNP associations with sST2 concentrations in plasma and serum and LD structure of the IL1RL1 region. (A) Genomic positions of SNPs are shown in mega-bases on the x-axis with mapped genes labeled by their HGNC symbols. –log10P values obtained from linear regression models of donor SNPs on log-transformed sST2 concentrations in serum and plasma are shown on the left y-axis. The shape of the data point indicates the regulatory effect of the SNP; line color of the shape denotes associations from previous studies, where blue and green show genome-wide association with a trait and multiple effects (GWAS hit or association with gene expression or methylation levels), respectively. These colors indicate that a majority of the associated SNPs showed a direct regulatory effect on a transcript, indicating the denoted region contained multiple eQTL. Fill color for each SNP indicates the r2 with the sentinel SNP, rs950880 (our most significant SNP-sST2 association), shown in a yellow-red gradient, with yellow indicating low LD (r2 < 0.2) and red, high LD (r2 > 0.8). Blue line coupled with the right y-axis shows the recombination rate in centi-Morgan (cM) per megabase. (B) Pairwise-LD heatmap of the region showing pairwise r2 between SNPs. Brighter red indicates stronger correlation between SNP pairs.

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