Variant report

Variant	rs683101
Chromosome Location	chr12:72891674-72891675
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	chr12:72879336..72881093-chr12:72890527..72893144,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10735969	0.85[CEU][hapmap]
rs10748198	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10748202	0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[EUR][1000 genomes]
rs10748203	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs10784975	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs10784979	0.85[EUR][1000 genomes]
rs10879436	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10879439	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879461	0.85[EUR][1000 genomes]
rs10879462	0.85[EUR][1000 genomes]
rs10879464	0.80[EUR][1000 genomes]
rs10879465	0.81[EUR][1000 genomes]
rs10879466	0.81[EUR][1000 genomes]
rs11179226	0.84[ASN][1000 genomes]
rs11179228	0.82[CHB][hapmap]
rs11179280	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11832989	0.83[CHB][hapmap]
rs1214894	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1214897	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1214899	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1347194	0.85[EUR][1000 genomes]
rs1347196	0.85[EUR][1000 genomes]
rs1353160	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1389497	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1444606	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1444607	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1687265	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1817885	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1836042	0.85[EUR][1000 genomes]
rs1836043	0.85[EUR][1000 genomes]
rs1836044	0.84[EUR][1000 genomes]
rs1864837	0.85[EUR][1000 genomes]
rs1864838	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1873349	0.81[CHB][hapmap]
rs1899907	0.82[CHB][hapmap]
rs1965318	0.83[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes]
rs2130660	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2887071	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs305396	0.82[CHB][hapmap]
rs305402	0.87[EUR][1000 genomes]
rs305403	0.87[EUR][1000 genomes]
rs3782366	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782367	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3817612	0.80[EUR][1000 genomes]
rs3843025	0.86[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs3852549	0.85[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs3852550	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs3858591	0.86[CHB][hapmap]
rs3910234	0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs4100196	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs460406	0.83[CHB][hapmap]
rs605027	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs626266	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6582090	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582094	0.85[EUR][1000 genomes]
rs6582095	0.85[EUR][1000 genomes]
rs7131984	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs7135547	0.85[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs7137054	0.83[CHB][hapmap]
rs71457035	0.85[EUR][1000 genomes]
rs723867	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7299984	0.85[EUR][1000 genomes]
rs7309263	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs7309330	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs7309651	0.85[EUR][1000 genomes]
rs7311350	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs7955512	0.81[CHB][hapmap]
rs7955871	0.87[CHB][hapmap]
rs7967001	0.94[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes]
rs7969680	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7969934	0.85[EUR][1000 genomes]
rs954147	0.82[CHB][hapmap]
rs963407	0.80[EUR][1000 genomes]
rs996575	0.88[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv832453	chr12:72778058-72966827	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv899259	chr12:72885554-73011367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72880600-72901600	Weak transcription	Pancreas	Pancrea
2	chr12:72880600-72905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:72890400-72902000	Weak transcription	Fetal Intestine Small	intestine

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