The Ensembl Regulatory Build
Open accessAbstract
Most genomic variants associated with phenotypic traits or disease do not fall within gene coding regions, but in regulatory regions, rendering their interpretation difficult. We collected public data on epigenetic marks and transcription factor binding in human cell types and used it to construct an intuitive summary of regulatory regions in the human genome. We verified it against independent assays for sensitivity. The Ensembl Regulatory Build will be progressively enriched when more data is made available. It is freely available on the Ensembl browser, from the Ensembl Regulation MySQL database server and in a dedicated track hub.
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Restricting to Alzheimer's disease-relevant tissues appears to aid in regulatory variant prioritization, with probabilities for functional variants increasing substantially when using GWAS4D cell-dependent analyses with brain or monocytes.
“restricting to Alzheimer’s disease–relevant tissues (via Ensembl Regulatory Build58 and GWAS4D59) appears to aid in regulatory variant prioritization, with probabilities for functional variants increasing substantially when using GWAS4D cell-dependent analyses with brain or monocytes”
From Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) · cites this paper as [58]
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- Authors
- Zerbino, D. R., Wilder, S. P., Johnson, N., Juettemann, T., & Flicek, P. R.
- Affiliations
- European Bioinformatics Institute (GB)
- Corresponding author
- Zerbino, Daniel R
- Flicek, Paul R
- Venue
- Genome Biology
- Published
- 2015-03-24
- Volume
- 16
- Issue
- 1
- Pages
- 56-56
- ISSN
- 1465-6906 (ISSN-L)
- PMC
- PMC4407537
- OpenAlex
- W2102659607
- Cited by
- 429
- References
- 53
- Citations by year
- 2026: 8 · 2025: 24 · 2024: 40 · 2023: 45 · 2022: 61 · 2021: 47 · 2020: 52 · 2019: 51 · 2018: 35 · 2017: 23 · 2016: 34 · 2015: 8 · 2014: 1
- FWCI
- 14.47
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Genome biology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust (FP7/2007–2013, 095908, WT095908, 223210)
- European Molecular Biology Laboratory
- European Commission (226073, 282510, 2007–2013, FP7 2007-2013, FP7/2007, 223210)
- Directorate for Biological Sciences
- Biotechnology and Biological Sciences Research Council (BB/I025360/2)
- National Human Genome Research Institute (U01HG004695)
- 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 › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- regulatory elements, epigenetic modifications, transcription factor binding, human genome annotation, non-coding variants, variant interpretation
- MeSH terms
- Humans, Software, Transcription Factors, User-Computer Interface, Computational Biology, Internet, Genomics, Databases, Genetic, Epigenesis, Genetic
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