Ontology highlight
ABSTRACT:
SUBMITTER: Kasowski M
PROVIDER: S-EPMC4075767 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Kasowski Maya M Kyriazopoulou-Panagiotopoulou Sofia S Grubert Fabian F Zaugg Judith B JB Kundaje Anshul A Liu Yuling Y Boyle Alan P AP Zhang Qiangfeng Cliff QC Zakharia Fouad F Spacek Damek V DV Li Jingjing J Xie Dan D Olarerin-George Anthony A Steinmetz Lars M LM Hogenesch John B JB Kellis Manolis M Batzoglou Serafim S Snyder Michael M
Science (New York, N.Y.) 20131017 6159
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 divers ...[more]