Variant report

Variant	rs13086680
Chromosome Location	chr3:42712141-42712142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13064597	0.90[EUR][1000 genomes]
rs13085143	0.89[EUR][1000 genomes]
rs13100261	0.91[EUR][1000 genomes]
rs2290976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs339705	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs339708	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34077739	0.89[EUR][1000 genomes]
rs34196076	0.89[EUR][1000 genomes]
rs34243788	0.91[EUR][1000 genomes]
rs34721465	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35384559	0.91[EUR][1000 genomes]
rs3733059	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733061	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55959327	0.84[EUR][1000 genomes]
rs58645732	0.91[EUR][1000 genomes]
rs66933062	0.97[EUR][1000 genomes]
rs67174294	0.90[EUR][1000 genomes]
rs7614219	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13086680	SEC22C	cis	Muscle Skeletal	GTEx
rs13086680	CCDC13	cis	Whole Blood	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42710000-42715200	Weak transcription	Fetal Heart	heart
2	chr3:42710800-42712200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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