VAMPIRE: Variant Annotation Method Pointing to Interesting Regulatory Effects

Overview

VAMPIRE (Variant Annotation Method Pointing to Interesting Regulatory Effects) provides a tool for the user to explore annotations encompassing 1D epigenomic signatures, variant impact on protein and gene expression, chromatin conformation information from Hi-C and similar technologies, as well as publicly available GWAS and PheWAS results, creating a comprehensive annotation profile for variants from recent trans-ethnic blood cell trait publications and preprints with a flexible interface for adding additional future GWAS results.

To visualize and leverage these multiple annotation categories for further analysis or prioritization of experimental validations, VAMPIRE effectively and efficiently displays and integrates relevant variant information, allowing the user to investigate either all the variants annotated or subsets based on annotation category groupings ('Search by Annotation Category Group' tab), searching either by variant ('Search by Variant ID' tab) or by gene name. ('Search by Gene Name' tab)

This current version of VAMPIRE includes GWAS results from three studies, including all variants in 95% credible sets for fine-mapped hematological trait associated loci from Chen et al , lead variants from a Trans-Omics for Precision Medicine (TOPMed) whole genome sequencing based analysis of red blood cell traits (Hu et al.) , and lead variants from a TOPMed imputed GWAS meta-analysis in African American and Hispanic/Latino populations (Kowalski et al.).

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Last Updated: December 10,2020

Select Phenotype Category

Select Variant Type

Select a Annotation Grouping Category:

Display:

To explore variants by their VAMPIRE annotations categories using the 'Search by Annotation Category Groupings' tab, filtering on the left side panel. Adjust for the tables displayed below by selecting from the list on the right. 'Variable level' contains selected information from their original study; '1D' refers to epigenetic annotation; '2D' refers to protein and gene expression related annotations; '3D' refers to chromatin conformation information; 'PheWAS' refers to phenotype association studies result annotations; 'GWAS' refers to genome wide association study results from the GWAS catalog.