to a small number of ‘top hits’ from a GWAS, as opposed to incorporating biological information into a full-scale GWAS for the purpose of prioritizing a large number of replication experiments, which is the purpose of SPOT. We are currently exploring ways of integrating additional biological information, such as from the sources in Tables 1 and 2, in order to provide users with a more comprehensive palette for establishing biological hypotheses. Table 2.Some data sources used by the web tools in Table 1 based on the latest documentation from their web sites and the corresponding bibliographic citationsNumberNameDescription1Consitea (48)Conserved transcription factor binding sites2dbSNP (8)General SNP/gene transcript properties3ECRBasea (11)Evolutionary conserved regions4Ensembl (49)Extensive genomic database including SNPs and gene transcripts5ESEfindera (50)Exonic splice sites6ESRSearch (51)Exonic-splicing regulatory (ESR) sequences7FAS-ESSa (52)Predicts exonic splicing silencer for each SNP allele8HapMap (6)Dense genotyping on multiple populations, useful for LD estimates9KinasePhosa (53)Phosphorylation sites10LS-SNP (54)SNP annotation tool11OGPETa,bPrediction of O-glycosylation sites in proteins12PESXa (55)Exon splicing enhancers/silencers13PolyPhen (9–10)Prediction of amino acid substitution effects14RescueESEa (56)Exonic splice sites15SIFT (39)Prediction of amino acid substitution effects16SNPeffect (57)SNP annotation with human disease17SNPs3D (47)Impact of nsSNPs on protein function18Sulfinatora (58)Tyrosine sulfination sites19TFSearcha,bTranscription factor binding sites20UCSC (59)Extensive genomic database including SNPs and gene transcriptsaAt the time of writing, this site
