Variant report

Variant	rs12294173
Chromosome Location	chr11:84394519-84394520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:84390374..84393326-chr11:84393925..84396078,2	MCF-7	breast:
2	chr11:84380382..84385547-chr11:84394508..84399622,6	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11234125	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11234135	0.91[ASW][hapmap];0.83[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234137	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234169	1.00[JPT][hapmap]
rs11602539	0.97[ASN][1000 genomes]
rs11824435	0.92[JPT][hapmap]
rs11826250	0.82[CHD][hapmap];0.92[JPT][hapmap]
rs12270207	0.86[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12274110	0.81[CHB][hapmap];0.82[MEX][hapmap]
rs17206578	0.92[JPT][hapmap]
rs1789175	0.83[CEU][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes]
rs1940092	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1943706	0.82[CHD][hapmap];0.92[JPT][hapmap]
rs1943707	1.00[JPT][hapmap]
rs2000816	1.00[JPT][hapmap]
rs4144288	0.92[JPT][hapmap]
rs4491251	0.90[JPT][hapmap]
rs4594021	0.82[CHD][hapmap];0.92[JPT][hapmap]
rs55890442	0.85[ASN][1000 genomes]
rs61899047	0.83[AMR][1000 genomes]
rs7109341	0.93[CHB][hapmap];0.93[CHD][hapmap];0.97[ASN][1000 genomes]
rs7120512	0.84[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs7128644	0.92[JPT][hapmap]
rs7925680	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7937351	0.92[JPT][hapmap]
rs7941876	0.93[ASN][1000 genomes]
rs7942057	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7943633	0.83[JPT][hapmap]
rs7950953	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv917176	chr11:84157998-84419488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1045974	chr11:84187214-84708462	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv555612	chr11:84222437-84415122	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1037047	chr11:84290572-84414586	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv541106	chr11:84290572-84414586	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1049964	chr11:84315563-84578721	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv555615	chr11:84334144-84541403	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv555616	chr11:84350646-84400029	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1050367	chr11:84355133-84476542	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv541107	chr11:84355133-84476542	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1043987	chr11:84355133-84516193	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv541108	chr11:84355133-84516193	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1051456	chr11:84355133-84544954	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr11:84386200-84394800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:84388000-84398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:84393600-84395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:84393600-84402800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:84393800-84396200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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