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. 2021 Aug 11;13:157. doi: 10.1186/s13148-021-01145-y

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 5 — DMRs enrichment for 15 chromatin states in 127 reference epigenomes in DYT28. Boxplots display enrichment scores (GIGGLE combo scores) distribution for 15 chromatin states as defined by the NIH Roadmap Epigenomics project. The active states (associated with expressed genes) consist of active transcription start site (TSS) proximal promoter states (Active TSS and Flanking Active TSS), a transcribed state at the 5′ and 3′ end of genes showing both promoter and enhancer signatures (Transcription at 5' and 3'), actively transcribed states (Strong Transcription and Weak Transcription), enhancer states (Enhancers and Genic Enhancers) and a state associated with zinc finger protein genes (ZNF genes and repeats). The inactive states consist of constitutive heterochromatin, bivalent regulatory states (Bivalent poised TSS, Flanking bivalent TSS enhancers and Bivalent enhancers), repressed PolyComb states (Repressed PolyComb and Weak Repressed PolyComb) and a quiescent state