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A compendium of promoter-centered long-range chromatin interactions in the human genome
Open accessAbstract
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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“consistent with the previous findings that multiple enhancers can interact with one promoter3,7.”
From Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders (2021) · cites this paper as [7]
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Self-citationThe Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
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Metadata
- 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
- ORCID
- Venue
- Nature Genetics
- Published
- 2019-09-09
- Volume
- 51
- Issue
- 10
- Pages
- 1442-1449
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC6778519
- 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
- FWCI
- 17.94
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- 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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