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. 2020 Jul 29;11:3696. doi: 10.1038/s41467-020-14743-w

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© The Author(s) 2020

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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Fig. 6 — a A stepwise prioritization scheme for genomic regulators, elements, and variants, using the ENCODEC resources. At each step of prioritization, we indicate criteria for prioritization, as well as the applicable validation assay. b Small-scale validation of prioritized variants using a luciferase reporter assay. Candidate region 5 showed the most significant degree of differential expression and was selected for follow-up analysis. c Multiscale integrative analysis of candidate region 5 with assorted functional genomics data. The affected region is observed in the context of large-scale Hi–C linkages (top), as well as element-level signal tracks of histone modification marks and DNase hypersensitivity together with various TF binding events (middle), and nucleotide level disruption of the FOSL2 motif (bottom).