title: Allele-specific and heritable chromatin signatures in humans.
abstract: Next-generation sequencing-based assays to detect gene regulatory elements are enabling the analysis of individual-to-individual and allele-specific variation of chromatin status and transcription factor binding in humans. Recently, a number of studies have explored this area, using lymphoblastoid cell lines. Around 10% of chromatin sites show either individual-level differences or allele-specific behavior. Future studies are likely to be limited by cell line accessibility, meaning that white-bloodcell-based studies are likely to continue to be the main source of samples. A detailed understanding of the relationship between normal genetic variation and chromatin variation can shed light on how polymorphisms in non-coding regions in the human genome might underlie phenotypic variation and disease.
authors.affiliation: European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. birney@ebi.ac.uk
authors.forename: Ewan
authors.initials: E
authors.lastname: Birney
authors.forename: Jason D
authors.initials: JD
authors.lastname: Lieb
authors.forename: Terrence S
authors.initials: TS
authors.lastname: Furey
authors.forename: Gregory E
authors.initials: GE
authors.lastname: Crawford
authors.forename: Vishwanath R
authors.initials: VR
authors.lastname: Iyer
mesh_terms: D000483:Alleles; D002843:Chromatin / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans
chemical_list: D002843:Chromatin