Journal
SCIENCE
Volume 342, Issue 6159, Pages 750-752Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1242510
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Funding
- NIH
- Genetics Department, Stanford University
- Vera Moulton Wall Center for Pulmonary Vascular Disease
- NIH MSTP TG [T32GM07205]
- Siebel Scholars Foundation
- KAUST-Stanford Academic Excellence Alliance program
- Swiss National Foundation
- Janggen-Poehn Foundation
- Div Of Biological Infrastructure
- Direct For Biological Sciences [0644282] Funding Source: National Science Foundation
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The majority of disease-associated variants lie outside protein-coding regions, suggesting a link between variation in regulatory regions and disease predisposition. We studied differences in chromatin states using five histone modifications, cohesin, and CTCF in lymphoblastoid lines from 19 individuals of diverse ancestry. We found extensive signal variation in regulatory regions, which often switch between active and repressed states across individuals. Enhancer activity is particularly diverse among individuals, whereas gene expression remains relatively stable. Chromatin variability shows genetic inheritance in trios, correlates with genetic variation and population divergence, and is associated with disruptions of transcription factor binding motifs. Overall, our results provide insights into chromatin variation among humans.
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