Literature DB >> 33095866

VARAdb: a comprehensive variation annotation database for human.

Qi Pan1, Yue-Juan Liu1, Xue-Feng Bai1, Xiao-Le Han1, Yong Jiang1, Bo Ai1, Shan-Shan Shi1, Fan Wang1, Ming-Cong Xu1, Yue-Zhu Wang1, Jun Zhao1, Jia-Xin Chen1, Jian Zhang1, Xue-Cang Li1, Jiang Zhu1, Guo-Rui Zhang1, Qiu-Yu Wang1, Chun-Quan Li1.   

Abstract

With the study of human diseases and biological processes increasing, a large number of non-coding variants have been identified and facilitated. The rapid accumulation of genetic and epigenomic information has resulted in an urgent need to collect and process data to explore the regulation of non-coding variants. Here, we developed a comprehensive variation annotation database for human (VARAdb, http://www.licpathway.net/VARAdb/), which specifically considers non-coding variants. VARAdb provides annotation information for 577,283,813 variations and novel variants, prioritizes variations based on scores using nine annotation categories, and supports pathway downstream analysis. Importantly, VARAdb integrates a large amount of genetic and epigenomic data into five annotation sections, which include 'Variation information', 'Regulatory information', 'Related genes', 'Chromatin accessibility' and 'Chromatin interaction'. The detailed annotation information consists of motif changes, risk SNPs, LD SNPs, eQTLs, clinical variant-drug-gene pairs, sequence conservation, somatic mutations, enhancers, super enhancers, promoters, transcription factors, chromatin states, histone modifications, chromatin accessibility regions and chromatin interactions. This database is a user-friendly interface to query, browse and visualize variations and related annotation information. VARAdb is a useful resource for selecting potential functional variations and interpreting their effects on human diseases and biological processes.
© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

Entities:  

Year:  2021        PMID: 33095866      PMCID: PMC7779011          DOI: 10.1093/nar/gkaa922

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  109 in total

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