Variant report

Variant	rs6581722
Chromosome Location	chr12:67302758-67302759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10506514	0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs10506515	0.82[EUR][1000 genomes]
rs10878520	0.82[EUR][1000 genomes]
rs10878521	0.82[EUR][1000 genomes]
rs10878522	0.82[EUR][1000 genomes]
rs10878523	0.82[EUR][1000 genomes]
rs10878524	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs10878525	0.82[EUR][1000 genomes]
rs10878526	0.82[EUR][1000 genomes]
rs10878527	0.82[EUR][1000 genomes]
rs10878528	0.82[EUR][1000 genomes]
rs10878529	0.82[EUR][1000 genomes]
rs10878530	0.82[EUR][1000 genomes]
rs10878531	0.82[EUR][1000 genomes]
rs10878532	0.82[EUR][1000 genomes]
rs10878533	0.82[EUR][1000 genomes]
rs10878534	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176482	0.82[EUR][1000 genomes]
rs11176483	0.82[EUR][1000 genomes]
rs11176484	0.82[EUR][1000 genomes]
rs11176487	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228305	0.81[EUR][1000 genomes]
rs12228327	0.82[EUR][1000 genomes]
rs12229513	0.82[EUR][1000 genomes]
rs12579822	0.82[EUR][1000 genomes]
rs12579830	0.82[EUR][1000 genomes]
rs12580443	0.82[EUR][1000 genomes]
rs1504313	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875832	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1995503	0.82[EUR][1000 genomes]
rs1995504	0.82[EUR][1000 genomes]
rs2221396	0.82[EUR][1000 genomes]
rs2870925	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904532	0.82[EUR][1000 genomes]
rs4913512	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs876419	0.81[EUR][1000 genomes]
rs876420	0.81[EUR][1000 genomes]
rs962415	0.91[GIH][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:67298000-67303000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:67298200-67302800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:67298200-67303000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:67299200-67302800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:67301200-67304000	Enhancers	Primary T cells from cord blood	blood
7	chr12:67302000-67302800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:67302200-67309000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:67302400-67305200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:67302400-67305200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:67302600-67305400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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