A single-cell atlas of chromatin accessibility in the human genome

Kai Zhang, James D. Hocker, Michael Miller, Xiaomeng Hou, Joshua Chiou, Olivier B. Poirion, Yunjiang Qiu, Yang E. Li, Kyle J. Gaulton, Allen Wang, Sebastian Preissl, Bing Ren

Research output: Contribution to journalArticlepeer-review

183 Scopus citations

Abstract

Current catalogs of regulatory sequences in the human genome are still incomplete and lack cell type resolution. To profile the activity of gene regulatory elements in diverse cell types and tissues in the human body, we applied single-cell chromatin accessibility assays to 30 adult human tissue types from multiple donors. We integrated these datasets with previous single-cell chromatin accessibility data from 15 fetal tissue types to reveal the status of open chromatin for ∼1.2 million candidate cis-regulatory elements (cCREs) in 222 distinct cell types comprised of >1.3 million nuclei. We used these chromatin accessibility maps to delineate cell-type-specificity of fetal and adult human cCREs and to systematically interpret the noncoding variants associated with complex human traits and diseases. This rich resource provides a foundation for the analysis of gene regulatory programs in human cell types across tissues, life stages, and organ systems.

Original languageEnglish
Pages (from-to)5985-6001.e19
JournalCell
Volume184
Issue number24
DOIs
StatePublished - Nov 24 2021

Keywords

  • GWAS
  • chromatin accessibility
  • cis regulatory elements
  • enhancers
  • epigenome
  • noncoding variants
  • single cell ATAC-seq

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