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. 2019 Feb 25;9:2695. doi: 10.1038/s41598-019-39633-0

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© The Author(s) 2019

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Schematic representation of using 3D interactions data to prioritize candidate target genes. (A) AS-SNP (red pin) in a regulatory enhancer harbored in a TAD loop defined by HiC data. The genomic architecture reduces the pool of possible target genes to genes enclosed in the TAD (genes 1–4). HiCap analyses allow narrowing the list of putative target genes even further evaluating specific probe interactions, pointing in this example to gene 2 as the likely target for the enhancer element. (B) The presence of an AS-SNP in a TAD interaction domain may lead to an altered assembly of the TAD formation protein complex (e.g. CTCF, cohesin, etc. represented in green) resulting in a different TAD architecture. In this example the disruption of TAD1 extends the list of putative target genes to genes 1–5.