Skip to main content

Table 2 Sources of disease-associated SNP annotation

From: LincSNP: a database of linking disease-associated SNPs to human large intergenic non-coding RNAs

Annotation

Item

Source

Description

SNP Summary

General Information

BioQ

BioQ provides query and documentation tools for genomic relational databases.

 

Genome Wide Association

BioQ

 
 

1000 Genome SNP

BioQ

 
 

LD Plot

BioQ

 

Genomic Mapping

Reference Gene

UCSC

Genes and Gene Prediction Tracks\RefSeq Genes\refGene;

 

Ensemble Gene

UCSC

Genes and Gene Prediction Tracks\Ensembl Genes\ensGene;

 

Known Gene

UCSC

Genes and Gene Prediction Tracks\UCSC Genes\knownGene;

 

Small RNA

UCSC

Genes and Gene Prediction Tracks\sno/miRNA\wgRna;

 

MicroRNA Target

UCSC

Regulation\TS miRNA sites\targetScanS;

 

TFBS

UCSC

Regulation\TFBS Conserved\tfbsConsSites;

 

Enhancer

VISTA Enhancer

Tissue specific human enhancers;

 

Insulator

CTCFBSDB

Vertebrate genomic insulators;

Evolution

SNP and Gene positive selection

SNP@Evolution

A hierarchical database of positive selection on the human genome;

 

Conserved Functional RNA

UCSC

Genes and Gene Prediction Tracks\EvoFold\evofold;

 

Conserved Elements

UCSC

Comparative Genomics\Conservation\Mammal EI;

Gene Co-Expression

3-way SNP-expression Associations

SNPxGE2

Human SNP–expression associations

Disease Association

OMIM gene

OMIM

Online Mendelian Inheritance in Man;

 

DGV gene

DGV

Structural variation in the human genome;

 

GAD gene

GAD

Genetic Association Database;

  1. Note: BioQ: http://bioq.saclab.net; UCSC: http://genome.ucsc.edu; VISTA Enhancer: http://enhancer.lbl.gov; CTCFBSDB: http://insulatordb.uthsc.edu; SNP@Evolution: http://bighapmap.big.ac.cn; SNPxGE2: http://lambchop.ads.uga.edu/snpxge2/index.php; OMIM: http://www.ncbi.nlm.nih.gov/omim; DGV: http://dgv.tcag.ca/dgv/app/home; GAD: http://geneticassociationdb.nih.gov/cgi-bin/index.cgi.