大量假定的顺式调控序列已在人类基因组中注释，但它们控制的基因仍然定义不明确。

Analysis of human diseases and physiological traits based on the putative target genes of GWAS SNPs.

为了解决这一差距，研究人员绘制了长距离染色质相互作用的图谱，该图以18943个注释好的启动子为中心，其作用于27种人类细胞/组织类型的蛋白质编码基因。研究人员使用该信息推断了70329个候选调控元件的靶基因，并提出了与2117个生理特征和疾病相关的27325个非编码序列变体的潜在调节功能。这些以启动子为中心的相互作用组图谱的整合分析揭示了广泛的增强子样启动子参与到基因调控以及不同人类特征和疾病类群的共同分子途径中。

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Title: A compendium of promoter-centered long-range chromatin interactions in the human genome

Author: Inkyung Jung, Anthony Schmitt, Yarui Diao, Andrew J. Lee, Tristin Liu, Dongchan Yang, Catherine Tan, Junghyun Eom, Marilynn Chan, Sora Chee, Zachary Chiang, Changyoun Kim, Eliezer Masliah, Cathy L. Barr, Bin Li, Samantha Kuan, Dongsup Kim, Bing Ren

Issue&Volume: 2019-09-09

Abstract: A large number of putative cis-regulatory sequences have been annotated in the human genome, but the genes they control remain poorly defined. To bridge this gap, we generate maps of long-range chromatin interactions centered on 18,943 well-annotated promoters for protein-coding genes in 27 human cell/tissue types. We use this information to infer the target genes of 70,329 candidate regulatory elements and suggest potential regulatory function for 27,325 noncoding sequence variants associated with 2,117 physiological traits and diseases. Integrative analysis of these promoter-centered interactome maps reveals widespread enhancer-like promoters involved in gene regulation and common molecular pathways underlying distinct groups of human traits and diseases. Mapping long-range chromatin interactions in 27 human cell/tissue types identifies candidate target genes of 70,329 putative regulatory elements. Further analysis suggests potential regulatory function for 27,325 noncoding variants associated with 2,117 traits and diseases.

DOI: 10.1038/s41588-019-0494-8

Source: https://www.nature.com/articles/s41588-019-0494-8