VARAdb

VARAdb annotates human non-coding genetic variants by integrating genetic and epigenomic data to prioritize functional variants and support downstream pathway analysis.

Key Features:

• Extensive Annotation Coverage: Contains annotations for over 577 million genetic variations, including novel variants.
• Prioritization Based on Scores: Employs a scoring system across nine annotation categories to prioritize potentially functional variants.
• Integration of Genetic and Epigenomic Data: Integrates diverse genetic and epigenomic datasets into five annotation sections: Variation Information, Regulatory Information, Related Genes, Chromatin Accessibility, and Chromatin Interaction.
• Comprehensive Annotation Details: Provides annotations for motif changes, risk SNPs, linkage disequilibrium (LD) SNPs, expression quantitative trait loci (eQTLs), clinical variant‑drug‑gene pairs, sequence conservation, somatic mutations, enhancers, super enhancers, promoters, transcription factors, chromatin states, histone modifications, and related annotations.
• Pathway Downstream Analysis: Facilitates downstream pathway analysis of identified variants to explore broader biological implications.

Scientific Applications:

• Variant prioritization and interpretation: Selecting and prioritizing potential functional non-coding variants and interpreting their effects on human diseases and biological processes.
• Regulatory mechanism investigation: Studying regulatory mechanisms and gene regulation by integrating genetic, epigenomic, chromatin accessibility, and chromatin interaction data.

Methodology:

VARAdb employs a scoring system across nine annotation categories, integrates genetic and epigenomic datasets into five annotation sections (Variation Information, Regulatory Information, Related Genes, Chromatin Accessibility, Chromatin Interaction), and supports downstream pathway analysis.