Fig. 6: QQ plot for enrichment of loci within Ensembl-predicted active regions within tissue groups. | Nature Genetics

Fig. 6: QQ plot for enrichment of loci within Ensembl-predicted active regions within tissue groups.

From: Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels

Fig. 6

Empirical one-sided P values for enrichment of signals within Ensembl-predicted active regions in 22 tissue groups for proteins by secretion status. a,d,g, Enrichment for single variants. b,e,h, Enrichment for Ensembl regulatory region-based aggregate tests. c,f,i, Enrichment for sliding-window-based aggregate tests. a–c, Enrichment within all predicted active regions. d–f, Enrichment for promoters. g–i, Enrichment for enhancers. The black curves represent, from top to bottom per plot, the 95% CIs of the expected P-value distribution under the null hypothesis. The proteins in each annotation category can be found in Supplementary Table 21. P values were derived from the proportion of sampled variants with equal or higher overlap with annotated regions. The blue points indicate secreted or signal proteins and the red ones nonsecreted protein groups. Liver and blood vessel cells are indicated by circles and all other cell types by triangles.

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