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ready HaploReg

General Information
HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with chromatin state and protein binding annotation from the Roadmap Epigenomics and ENCODE projects, sequence conservation across mammals, the effect of SNPs on regulatory motifs, and the effect of SNPs on expression from eQTL studies. HaploReg is designed for researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation.



Record updated: Sept. 26, 2016, 10:19 a.m. by The FAIRsharing Team.


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Grant Number(s)

  • 0644282 (National Science Foundation)

  • R01-HG004037 (ELIXIR IIB, Italy)

  • R01-HG008155 (ELIXIR IIB, Italy)

  • RC1-HG005334 (ELIXIR IIB, Italy)


Publications

HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.

Ward LD,Kellis M
Nucleic Acids Res 2015

View Paper (PubMed) View Paper (DOI)

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants.

Ward LD,Kellis M
Nucleic Acids Res 2011

View Paper (PubMed) View Paper (DOI)