Variant report

Variant	rs954147
Chromosome Location	chr12:72903301-72903302
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	chr12:72897155..72898665-chr12:72902217..72905015,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10128837	0.84[GIH][hapmap]
rs10128854	0.85[GIH][hapmap]
rs1017987	0.80[CHB][hapmap]
rs1032331	0.81[CHB][hapmap]
rs1032332	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs10506656	0.86[CHB][hapmap]
rs10506657	0.86[CHB][hapmap]
rs10506658	0.86[CHB][hapmap]
rs10748199	0.85[CHB][hapmap]
rs10784972	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs10784973	0.85[GIH][hapmap]
rs10879451	0.82[CHB][hapmap]
rs11179226	0.81[ASN][1000 genomes]
rs11179228	0.83[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs11179230	0.83[ASN][1000 genomes]
rs11179240	0.86[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.82[ASN][1000 genomes]
rs11179255	0.85[CHB][hapmap]
rs11179264	0.85[CHB][hapmap]
rs11179267	0.85[GIH][hapmap]
rs11832989	0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs11834716	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs1214894	0.82[CHB][hapmap]
rs1214897	0.82[CHB][hapmap]
rs1214899	0.82[CHB][hapmap]
rs12296996	0.86[CHB][hapmap]
rs12298218	0.82[CHB][hapmap];0.85[GIH][hapmap]
rs12298495	0.81[CHB][hapmap];0.85[GIH][hapmap]
rs12302064	0.84[GIH][hapmap]
rs12302437	0.82[CHB][hapmap]
rs12304007	0.86[CHB][hapmap]
rs12304367	0.86[CHB][hapmap]
rs12310724	0.86[CHB][hapmap]
rs12322419	0.85[CHB][hapmap]
rs12581283	0.82[CHB][hapmap]
rs12816288	0.81[CHB][hapmap]
rs12821081	0.80[CHB][hapmap]
rs12824763	0.85[GIH][hapmap]
rs12824967	0.85[GIH][hapmap]
rs1389497	0.82[CHB][hapmap]
rs1444606	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs1444607	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs1817885	0.82[CHB][hapmap]
rs1873347	0.85[GIH][hapmap]
rs1873348	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs1873349	0.90[CHB][hapmap]
rs1899907	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1907087	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs1908180	0.86[CHB][hapmap]
rs1965318	0.81[CHB][hapmap]
rs1968964	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs2130660	0.81[CHB][hapmap]
rs2272503	0.86[CHB][hapmap]
rs2272504	0.86[CHB][hapmap]
rs2272506	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs2367751	0.83[ASN][1000 genomes]
rs2887071	0.82[CHB][hapmap]
rs3782367	0.82[CHB][hapmap]
rs3782368	0.82[CHB][hapmap]
rs3858591	0.91[CHB][hapmap]
rs605027	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs6582090	0.84[CHD][hapmap]
rs683101	0.82[CHB][hapmap]
rs7137054	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs723867	0.82[CHB][hapmap]
rs7295506	0.83[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7295898	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7296349	0.80[CHB][hapmap]
rs7310174	0.85[GIH][hapmap]
rs7311350	0.83[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.85[ASN][1000 genomes]
rs7315299	0.89[GIH][hapmap]
rs7315407	0.85[GIH][hapmap]
rs7955512	0.90[CHB][hapmap]
rs7955871	0.95[CHB][hapmap]
rs7964031	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs7967001	0.82[CHB][hapmap]
rs7976677	0.86[CHB][hapmap]
rs7978934	0.86[CHB][hapmap];0.85[GIH][hapmap]

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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72880600-72905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:72899800-72903600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:72901600-72903400	Enhancers	Fetal Intestine Large	intestine
4	chr12:72901800-72903400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:72901800-72903800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:72901800-72905800	Weak transcription	Pancreas	Pancrea
7	chr12:72902200-72903600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:72903200-72906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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