title: The ensembl regulatory build.
abstract: 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.
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. zerbino@ebi.ac.uk.
authors.forename: Daniel R
authors.initials: DR
authors.lastname: Zerbino
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. swilder@ebi.ac.uk.
authors.forename: Steven P
authors.initials: SP
authors.lastname: Wilder
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. njohnson@ebi.ac.uk.
authors.forename: Nathan
authors.initials: N
authors.lastname: Johnson
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. juettemann@ebi.ac.uk.
authors.forename: Thomas
authors.initials: T
authors.lastname: Juettemann
authors.affiliation: European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. flicek@ebi.ac.uk.
authors.forename: Paul R
authors.initials: PR
authors.lastname: Flicek
mesh_terms: D019295:Computational Biology; D030541:Databases, Genetic; D044127:Epigenesis, Genetic / Q000235:genetics; D023281:Genomics; D006801:Humans; D020407:Internet; D012984:Software; D014157:Transcription Factors / Q000235:genetics*; D014584:User-Computer Interface
chemical_list: D014157:Transcription Factors