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. Author manuscript; available in PMC: 2017 Oct 3.
Published in final edited form as: Nat Genet. 2017 Apr 3;49(5):692–699. doi: 10.1038/ng.3834

Figure 4.

Figure 4

Candidate SV-eQTLs at GWAS loci. Genomic position and haplotype blocks are shown on the x-axis, and each variant’s association with the indicated eGene is shown on the y-axis. The rectangular points represent the predicted causal SV, with the colors representing its linkage (r2) to each marker in the window. The labeled diamonds show the reported risk allele for the specified GWAS phenotype. (a) A 294 bp deletion that intersects an enhancer in intron 1 of DAB2IP was linked to a risk allele for abdominal aortic aneurysm (rs7025486), and is also predicted to be a causal eQTL for DAB2IP. (b) A 1,468 bp deletion associated with increased expression of PADI4 is linked to a known risk allele for rheumatoid arthritis (rs2301888).