Integrative analysis of 111 reference human epigenomes

The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and…

• NS
  National Science Foundation

  Awards: 1254200, CAREER
• MG
  Massachusetts General Hospital
• WU
  Washington University in St. Louis
• NN
  National Natural Science Foundation of China

  Award: 91019016
• TU
  Tsinghua University

  Award: 100084
• TN
  Tsinghua National Laboratory for Information Science and Technology
• NI
  National Institutes of Health

  Awards: ES017166, K99HL119617, U01ES017154, U01AG46152, R01AG17917, U01DA025956, R01AG15819, 5R24HD000836, P30AG10161, F32HL110473, R01HG004037
• NI
  National Institute on Drug Abuse
• NH
  National Human Genome Research Institute
• NI
  National Institute on Deafness and Other Communication Disorders
• NI
  National Institute of Environmental Health Sciences

  Awards: P30AG10161, U01AG46152, R01AG15819, R01AG17917
• NC
  National Center for Advancing Translational Sciences
• CF
  Common Fund