Figure 6. Enrichment of SNPs associated with blood cell traits from UK Biobank in VISION cCREs.

(A) Human cCREs are enriched in the heritability of blood-related traits. Results of the initial sLDSC analysis of all cCREs considered as a single annotation. The plot shows enrichment of the cCRE annotation in heritability of each trait on the x-axis, and the significance of the enrichment on the y-axis. The vertical dotted line indicates an enrichment of 1, and the horizontal dotted line delineates the 5% FDR significance threshold. Points and labels in red represent the traits for which there was significant enrichment of SNPs associated with the VISION cCREs. Traits with a negative enrichment were assigned an arbitrary enrichment of 0.1 for plotting and appear as the column of points at the bottom left of the plot. The shape of the point delineates the sex in which the GWAS analysis was performed for each trait. (B) Results of the JmC sLDSC analysis where each set of cCREs within a JmC was considered as a separate annotation. The plot lists a trait on the x-axis if any JmC had a significant enrichment for it. The labels for these traits are maroon for blood count traits, purple for blood biochemistry traits, and black for non-blood related traits. The plot lists the JmC on the y-axis. For a given JmC and trait combination, a dot is plotted if and only if there was an observed significant enrichment for that combination. Size of the dot reflects the significance of the enrichment, and the color of the dot reflects the size of the enrichment itself. Negative enrichments are colored gray. Panels separate the sex in which the GWAS analysis was performed for each trait.