QTLbase

QTLbase: Integrative Resource for Human Quantitative Trait Loci

QTLbase integrates and standardizes genome-wide quantitative trait loci (QTL) summary statistics across 13 human molecular traits from over 233 independent studies, enabling analysis of genotype–molecular trait associations and investigation of the genetic basis of complex traits.

Key Features:

• Data Curation and Normalization: Compiles and harmonizes variant and trait information to generate over 170 million significant QTL associations from genome-wide studies.
• Tissue/Cell Type Mapping: Maps QTL-associated tissues and cell types to 78 unified anatomogram-based terms to support tissue-specific genetic effect analysis.
• Functional Annotation: Integrates genomic features and functional predictions to annotate potential regulatory mechanisms underlying identified QTLs.
• Cross-Trait and Cross-Tissue Comparison: Enables retrieval and comparative analysis of QTLs across tissues and molecular layers to assess functional variant effects.

Scientific Applications:

• Genetic Architecture of Complex Traits: Supports interpretation of molecular functions of genetic variants, identification of tissue- or cell-type-specific effects, and investigation of causal mechanisms relevant to health and disease.

Methodology:

Aggregates genome-wide QTL summary statistics from multiple studies, standardizes variant and molecular trait identifiers, maps tissues and cell types to unified anatomogram terms, and annotates QTLs with genomic features and functional predictions to enable integrative cross-study and cross-tissue analyses.