Lu Yiming, Quan Cheng, Chen Hebing, Bo Xiaochen, Zhang Chenggang
Beijing Institute of Radiation Medicine, State Key Laboratory of Proteomics, Beijing 100850, China.
Beijing Institute of Radiation Medicine, State Key Laboratory of Proteomics, Beijing 100850, China
Nucleic Acids Res. 2017 Jan 4;45(D1):D643-D649. doi: 10.1093/nar/gkw1022. Epub 2016 Oct 26.
The vast noncoding portion of the human genome harbors a rich array of functional elements and disease-causing regulatory variants. Recent high-throughput chromosome conformation capture studies have outlined the principles of these elements interacting and regulating the expression of distal target genes through three-dimensional (3D) chromatin looping. Here we present 3DSNP, an integrated database for annotating human noncoding variants by exploring their roles in the distal interactions between genes and regulatory elements. 3DSNP integrates 3D chromatin interactions, local chromatin signatures in different cell types and linkage disequilibrium (LD) information from the 1000 Genomes Project. 3DSNP provides informative visualization tools to display the integrated local and 3D chromatin signatures and the genetic associations among variants. Data from different functional categories are integrated in a scoring system that quantitatively measures the functionality of SNPs to help select important variants from a large pool. 3DSNP is a valuable resource for the annotation of human noncoding genome sequence and investigating the impact of noncoding variants on clinical phenotypes. The 3DSNP database is available at http://biotech.bmi.ac.cn/3dsnp/.
人类基因组中大量的非编码部分包含了丰富的功能元件和致病调控变异。最近的高通量染色体构象捕获研究概述了这些元件通过三维(3D)染色质环化相互作用并调控远端靶基因表达的原理。在此,我们展示了3DSNP,这是一个通过探索人类非编码变异在基因与调控元件之间远端相互作用中的作用来注释这些变异的综合数据库。3DSNP整合了3D染色质相互作用、不同细胞类型中的局部染色质特征以及来自千人基因组计划的连锁不平衡(LD)信息。3DSNP提供了信息丰富的可视化工具,以展示整合的局部和3D染色质特征以及变异之间的遗传关联。来自不同功能类别的数据被整合到一个评分系统中,该系统定量衡量单核苷酸多态性(SNP)的功能,以帮助从大量变异中筛选出重要变异。3DSNP是注释人类非编码基因组序列以及研究非编码变异对临床表型影响的宝贵资源。3DSNP数据库可在http://biotech.bmi.ac.cn/3dsnp/获取。