Journal
NATURE
Volume 518, Issue 7539, Pages 350-354Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature14217
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Funding
- NIH Epigenome Roadmap Project [U01 ES017166]
- CIRM [RN2-00905-1]
- NIH [ES017166, F32HL110473, K99HL119617]
- NSFC [91019016]
- NBRPC [2012CB316503]
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Allelic differences between the two homologous chromosomes can affect the propensity of inheritance in humans; however, the extent of such differences in the human genome has yet to be fully explored. Here we delineate allelic chromatin modifications and transcriptomes among a broad set of human tissues, enabled by a chromosome-spanning haplotype reconstruction strategy(1). The resulting large collection of haplotype-resolved epigenomic maps reveals extensive allelic biases in both chromatin state and transcription, which show considerable variation across tissues and between individuals, and allow us to investigate cis-regulatory relationships between genes and their control sequences. Analyses of histone modification maps also uncover intriguing characteristics of cis-regulatory elements and tissue-restricted activities of repetitive elements. The rich data sets described here will enhance our understanding of the mechanisms by which cis-regulatory elements control gene expression programs.
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