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. 2021 Jun 9;49(11):6315–6330. doi: 10.1093/nar/gkab475

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© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 2. — Diagram of KCNQ1, KCNQ1OT1, and CDKN1C within the IC2 domain. (A) UCSC genome browser view of hg19 chr11:2 443 460–2 921 770 including ENCODE tracks of histone modifications and DNase hypersensitivity (HS) sites observed in H1-hESC samples. (B) A stylized diagram of the IC2 domain demonstrating the parent-of-origin gene expression in scale with the UCSC view. In both panels. The documented BWS-causing KCNQ1 5′ deletion is indicated by the gold box. Protein-coding genes (KCNQ1 and CDKN1C) antisense transcript (KCNQ1OT1) are indicated in purple. CpG islands within the region are displayed in green, while CTCF binding sites are highlighted in aqua. Capture C anchors and ChIP-qPCR primer sites are indicated by Region1-5 labels. Scale bar indicates 100 kb.