Cited by 375Genomics and Chromatin DynamicsGenetic Associations and EpidemiologyCancer-related molecular mechanisms research

A compendium of promoter-centered long-range chromatin interactions in the human genome

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Jung, Inkyung, Schmitt, Anthony, Diao, Yarui, Lee, Andrew J., Liu, Tristin, Yang, Dongchan, Tan, Catherine, Eom, Junghyun +10 more·2019·Nature Genetics

Abstract

A large number of putative cis-regulatory sequences have been annotated in the human genome, but the genes they control remain poorly defined. To bridge this gap, we generate maps of long-range chromatin interactions centered on 18,943 well-annotated promoters for protein-coding genes in 27 human cell/tissue types. We use this information to infer the target genes of 70,329 candidate regulatory elements and suggest potential regulatory function for 27,325 noncoding sequence variants associated with 2,117 physiological traits and diseases. Integrative analysis of these promoter-centered interactome maps reveals widespread enhancer-like promoters involved in gene regulation and common molecular pathways underlying distinct groups of human traits and diseases.

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Authors
Jung, I., Schmitt, A., Diao, Y., Lee, A. J., Liu, T., Yang, D., Tan, C., Eom, J., Chan, M., Chee, S., Chiang, Z., Kim, C., Masliah, E., Barr, C. L., Li, B., Kuan, S., Kim, D., & Ren, B.
Affiliations
  • Korea Advanced Institute of Science and Technology (KR)
  • University of California San Diego (US)
  • Duke University (US)
  • Ludwig Cancer Research (US)
  • University of California, San Francisco (US)
  • National Institutes of Health (US)
  • University Health Network (CA)
Corresponding author
  • Jung, Inkyung
  • Ren, Bing
Venue
Nature Genetics
Published
2019-09-09
Volume
51
Issue
10
Pages
1442-1449
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2955994579
Cited by
362
References
41
Citations by year
2026: 32 · 2025: 40 · 2024: 40 · 2023: 45 · 2022: 74 · 2021: 79 · 2020: 49 · 2019: 2 · 2018: 1
FWCI
17.94
Type
journal article
Language
en
Open access
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Ludwig Institute for Cancer Research
  • U.S. Department of Health & Human Services | National Institutes of Health (U54HG006997, 1R01ES024984)
  • Ministry of Science, ICT and Future Planning (2017R1C1B2008838)
  • Ministry of Health and Welfare (HI17C0328)
  • SUHF Fellowship is private funding from Suh Kyungbae Foundation (https://www.suhf.org/main/index.do) for young researchers.
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
Keywords
long-range chromatin interactions, promoter, cis-regulatory elements, non-coding variants, human qualities, disease, gene expression regulation
MeSH terms
Chromatin, Gene Expression Regulation, Humans, Promoter Regions, Genetic, Regulatory Sequences, Nucleic Acid, Transcription Factors, Genome, Human, Genomics

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