Variant report

Variant	rs3867485
Chromosome Location	chr12:10440645-10440646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11053722	0.96[ASN][1000 genomes]
rs12311695	0.95[ASN][1000 genomes]
rs12321554	0.82[ASN][1000 genomes]
rs2617135	0.95[ASN][1000 genomes]
rs2617137	0.96[ASN][1000 genomes]
rs2927558	0.96[ASN][1000 genomes]
rs4764369	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7958472	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7969664	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv557454	chr12:10417260-10440885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart
2	chr12:10436400-10441600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:10438200-10441400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10438600-10441400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:10438800-10443600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:10439000-10441600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:10440000-10441600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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

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