Variant report

Variant	rs12713378
Chromosome Location	chr2:58498631-58498632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10184957	0.88[JPT][hapmap]
rs11903212	0.94[JPT][hapmap]
rs12614056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618143	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12624152	0.94[JPT][hapmap]
rs13006005	0.94[JPT][hapmap]
rs13017949	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13023405	0.95[JPT][hapmap]
rs1404457	0.95[JPT][hapmap]
rs1404460	0.94[JPT][hapmap]
rs34569124	0.82[AFR][1000 genomes]
rs34613444	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3771222	0.94[JPT][hapmap]
rs6714952	0.82[JPT][hapmap]
rs7558066	0.94[JPT][hapmap]
rs7561771	0.95[JPT][hapmap]
rs9973679	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9973912	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58496400-58500000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:58498400-58499200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:58498600-58499200	Enhancers	Brain Angular Gyrus	brain
4	chr2:58498600-58499200	Enhancers	Brain Hippocampus Middle	brain
5	chr2:58498600-58500000	Enhancers	Brain Substantia Nigra	brain

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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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