3 aQTL-atlas

3 aQTL-atlas catalogs and analyzes alternative polyadenylation quantitative trait loci (3'aQTLs) associated with 3′UTR alternative polyadenylation across human tissues using large-scale RNA-seq and genotype data.

Key Features:

• Large-Scale 3'aQTL Dataset: Contains approximately 1.49 million SNPs associated with alternative polyadenylation derived from 15,201 RNA-seq samples across 49 human tissues from 838 individuals in the Genotype-Tissue Expression (GTEx v8) project.
• APA–SNP Association Mapping: Links genetic variants to alternative polyadenylation events in target genes across multiple tissues.
• GWAS Colocalization Analysis: Enables identification of colocalization between genome-wide association study (GWAS) SNPs and 3'aQTLs to investigate genetic mechanisms underlying traits and diseases.
• Tissue-Specific APA Analysis: Provides tissue-resolved mapping of SNP effects on 3′UTR alternative polyadenylation patterns.

Scientific Applications:

• Functional Interpretation of Non-Coding Variants: Supports interpretation of GWAS-associated SNPs through their effects on alternative polyadenylation.
• Gene Regulation Studies: Enables investigation of genetic regulation of 3′UTR alternative polyadenylation across human tissues.
• Disease Genetics Research: Facilitates identification of susceptibility loci and regulatory mechanisms linking genetic variation to human traits and diseases.

Methodology:

The resource integrates genotype and RNA-seq data from the GTEx v8 project to identify SNP associations with alternative polyadenylation events across 49 tissues, generating genome-wide maps of 3 aQTLs and enabling colocalization analysis with GWAS variants.