Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2023 Nov 29;625(7996):735–742. doi: 10.1038/s41586-023-06798-8

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 3 — a, Predicted target genes have fewer loss-of-function mutations in humans than expected at constrained DHS elements. Error bars represent 95% confidence intervals. b, Constrained DHS elements have fewer mutations in human populations than unconstrained elements. Error bars represent 95% confidence intervals. c, Enrichment of allele-specific regulatory activity (MPRA) for 27,023 common variants, stratified by type of constraint. A colour legend for constraint categories is shown in d. Error bars represent 95% confidence intervals, the central dot represents point estimates; n = 27,023 variants. d, Proportion of constrained DHS elements across 16 broad cellular contexts. Error bars represent 95% confidence intervals, centre represents proportion. n = 1,029,688 DHS elements. Dev., development; endo., endothelial; epi., epithelial. e, Scatter plot of mean primate and mammal phyloP scores at DHS elements, stratified by cell types. A linear fit is shown with a corresponding 95% confidence interval ribbon. Putative outlier cell types with higher primate phyloP than mammal phyloP scores are indicated. f, Differences in the proportion of primate and mammalian constrained footprints in human DHS elements, for each of 283 transcription factor family motifs. Positive values indicate a higher proportion of constrained TFBSs in primates, negative values indicate a lower proportion of constrained TFBSs in primates. Transcription factors that are the least constrained in primates compared to mammals are labelled, and significantly different transcription factors are coloured in magenta (FDR < 5%). Error bars represent 95% confidence intervals.