Extensive variation in chromatin states across humans Academic Article uri icon


MeSH Major

  • Chromatin
  • Gene Expression Regulation
  • Genetic Predisposition to Disease


  • 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.

publication date

  • January 2013



  • Academic Article



  • eng

PubMed Central ID

  • PMC4075767

Digital Object Identifier (DOI)

  • 10.1126/science.1242510

PubMed ID

  • 24136358

Additional Document Info

start page

  • 750

end page

  • 2


  • 342


  • 6159