Fig. 5

S-LDSC identifies HMR annotation-specific trait enrichments. A Volcano-style plots of S-LDSC partitioned heritability results across 79 traits are shown for three B cell HMR groups: H1 ESC-derived, HSPC-derived, and cell specific. HMRs are ordered by the developmentally distinct cell type in which they were established. Each HMR group was tested for enrichment of genetic heritability with a standard set of 98 base annotations against traits that include both clinical diseases as well as clinical lab values. Negative enrichment values were clipped to the lowest positive enrichment value for each row of plots (A: 0.1174537; B: 0.25754925). The size of each point represents the -log₁₀ p-value of the enrichment, and the color shows the log₁₀ enrichment value. Points with a p-value <  = 0.05 or an enrichment > 10 are labeled by their trait name where available. B Further partitioned heritability analysis applied to B cell HMRs grouped only by clustering behavior is also represented. C Point and line plot of S-LDSC enrichment values by annotation group for “Lymphocyte Count”. These graphs include data from developmentally derived B cell HMRs compared against other enhancer-associated groups, including ancient human enhancer sequence age, FANTOM 5 enhancers, eQTLs, super-enhancers, and the H3K27ac histone mark. Genomic controls were also included, such as phastCons 46-way annotations as well as promoters and CTCF sites. The x-axis represents enrichment values, and the y-axis displays genomic annotations. Points show enrichment estimates and lines display 95% confidence intervals. The red line marks an enrichment score of 0. D Point and line plot of S-LDSC enrichment values by annotation group for “Crohn’s Disease”