Variant report

Variant	rs12466996
Chromosome Location	chr2:141475538-141475539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:141469791..141471888-chr2:141475142..141477938,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10166257	1.00[CHD][hapmap]
rs10177475	1.00[CHD][hapmap]
rs1156176	1.00[CHB][hapmap]
rs11888340	1.00[CHB][hapmap]
rs12465494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12467037	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12467677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12470650	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12472556	1.00[CHB][hapmap]
rs12478219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1429329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1429331	1.00[CHB][hapmap]
rs2171169	1.00[CHB][hapmap]
rs288114	1.00[CEU][hapmap]
rs288115	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs288122	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs288124	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2890537	1.00[CHB][hapmap]
rs3749010	1.00[CHB][hapmap]
rs393182	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs410709	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs494227	1.00[JPT][hapmap]
rs4954857	1.00[CHB][hapmap]
rs4954859	1.00[CHB][hapmap]
rs6738708	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6758311	1.00[CHB][hapmap]
rs7588435	1.00[CHB][hapmap]
rs961910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs982089	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875194	chr2:141391918-141504719	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875195	chr2:141407101-141542081	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875197	chr2:141409166-141478468	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875198	chr2:141409166-141571329	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875199	chr2:141409166-141600366	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv583196	chr2:141426714-141487897	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv459540	chr2:141428751-141487897	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv459552	chr2:141428751-141487897	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv583197	chr2:141428751-141487897	Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv875200	chr2:141448312-141504719	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv875201	chr2:141448312-141561255	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv875202	chr2:141448312-141587228	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv875203	chr2:141448312-141592252	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141475400-141475800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:141475400-141477400	Enhancers	Pancreatic Islets	Pancreatic Islet

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