Cited by 349Genomics and Chromatin DynamicsGenetic Associations and EpidemiologyEpigenetics and DNA Methylation

Extensive Variation in Chromatin States Across Humans

Open access
Kasowski, Maya, Kyriazopoulou-Panagiotopoulou, Sofia, Grubert, Fabian, Zaugg, Judith B., Kundaje, Anshul, Liu, Yuling, Boyle, Alan P., Zhang, Qiangfeng Cliff +10 more·2013·Science

Abstract

DNA Differences: The extent to which genetic variation affects an individual's phenotype has been difficult to predict because the majority of variation lies outside the coding regions of genes. Now, three studies examine the extent to which genetic variation affects the chromatin of individuals with diverse ancestry and genetic variation (see the Perspective by Furey and Sethupathy ). Kasowski et al. (p. 750 , published online 17 October) examined how genetic variation affects differences in chromatin states and their correlation to histone modifications, as well as more general DNA binding factors. Kilpinen et al. (p. 744 , published online 17 October) document how genetic variation is linked to allelic specificity in transcription factor binding, histone modifications, and transcription. McVicker et al. (p. 747 , published online 17 October) identified how quantitative trait loci affect histone modifications in Yoruban individuals and established which specific transcription factors affect such modifications.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1126/science.1242510

Cites

41 of 41 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • The locations and sequence content of enhancers provide insights into how non-coding genetic variation may affect gene expression and cellular phenotypes.

    “Furthermore, the locations and sequence content of enhancers provide insights into how non-coding genetic variation may affect gene expression and cellular phenotypes (32, 36–38).”

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

1 of the 42 references couldn’t be matched to a known paper.

Research works printed but not linked: 1

  1. [13]Abecasis GR Nature 467 1061 1073 2010 20981092 PMC3042601

Cited by

Sorted by citations

Authors
Kasowski, M., Kyriazopoulou-Panagiotopoulou, S., Grubert, F., Zaugg, J. B., Kundaje, A., Liu, Y., Boyle, A. P., Zhang, Q. C., Zakharia, F., Spacek, D. V., Li, J., Xie, D., Olarerin-George, A., Steinmetz, L. M., Hogenesch, J. B., Kellis, M., Batzoglou, S., & Snyder, M.
Affiliations
  • Yale University (US)
  • Stanford University (US)
  • Stanford Medicine (US)
  • Broad Institute (US)
  • University of Pennsylvania (US)
Corresponding author
  • Kasowski, Maya
  • Kyriazopoulou-Panagiotopoulou, Sofia
  • Grubert, Fabian
  • Zaugg, Judith B.
  • Kundaje, Anshul
  • Snyder, Michael
Venue
Science
Published
2013-11-08
Volume
342
Issue
6159
Pages
750-752
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2023342647
Cited by
339
References
42
Citations by year
2026: 9 · 2025: 10 · 2024: 11 · 2023: 5 · 2022: 19 · 2021: 24 · 2020: 20 · 2019: 34 · 2018: 30 · 2017: 36 · 2016: 31 · 2015: 53 · 2014: 51 · 2013: 6
FWCI
21.04
Type
journal article
Language
en
Open access
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion)
  • King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (submittedVersion)
  • PMC
Funders
  • Siebel Scholars Foundation
  • King Abdullah University of Science and Technology
  • Janggen-Pöhn-Stiftung
  • National Institutes of Health
  • National Heart, Lung, and Blood Institute (U01HL107393)
  • National Human Genome Research Institute (K99HG007356, R01HG004037, T32HG000044)
  • National Institute of General Medical Sciences (T32-GM07205, T32GM007205)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords
genetic variation, histone modifications, transcription factor binding, quantitative trait loci, human ancestry, Yoruba, transcriptional regulation
MeSH terms
CCCTC-Binding Factor, Cohesins, Binding Sites, Chromatin, Chromosomal Proteins, Non-Histone, Enhancer Elements, Genetic, Gene Expression Regulation, Histones, Humans, Repressor Proteins, Transcription Factors, Genetic Variation, Cell Cycle Proteins, Genetic Predisposition to Disease, Cell Line, Tumor

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review