Figure 2. Variants in open chromatin regions are major contributors to BP heritability.

(A) Schematic of how the genome is partitioned into five distinct non-overlapping regions based on gene annotation and chromatin accessibility. To avoid overlap, the five genomic categories were defined sequentially from top to bottom, in the order shown in the legend. The gene region is defined by the entire gene body with its ±50,000 bp flanking regions.

(B) Bar plots show the proportion of SNPs (top), the proportion of SNP heritability (middle), and the enrichment scores (bottom) for the top 10,000 genes expressed in each of the four tissues and their union. The LDSC method was used for the analysis, and each tissue was analyzed separately with the baseline model (v.2.2).

(C) For each tissue, the three statistics shown in (B) are further divided into the five exclusive genomic categories as described in (A). These five categories were analyzed together in one LDSC model to account for variants with high LD in more than one genomic category.

Error bars in (B) and (C) are standard errors estimated using a block jackknife method implemented in the LDSC method with a default setting (n = 200 blocks).

Asterisks indicate the statistical significance based on Z scores from S-LDSC coefficients (*p < 0.01, **p < 0.001, ***p < 0.0001).