eQTL based SNP Ontology (eSNPO) is a SNP annotation database and enrichment analysis platform. GWAS is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait. GWASs typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major diseases. Expression quantitative trait loci (eQTLs) are genomic loci that contribute to variation in expression levels of mRNAs. Gene Ontology (GO) is a major bioinformatics initiative to unify the representation of gene and gene product attributes across all species.
In this database, we mine relations between SNPs and GO terms using the eQTL information and GO database in 12 tissues. Using eSNPO, you can query GO terms for a SNP or query SNPs for a GO term. Furthermore, you can perform SNP functional enrichment analysis for significant SNPs in GWAs.
Creation Date: Nov. 10, 2015
Updated Date: Nov. 10, 2015
Number of SNPs: 616236
Number of GO Terms: 46422
Number of entries: 12665769
Citation: Jin Li, Limei Wang, Tao Jiang, Jizhe Wang, Maozu Guo, et.al, eSNPO: an eQTL-based SNP Ontology and SNP functional enrichment analysis platform, In submittion.