Variant report

Variant	rs3847120
Chromosome Location	chr7:80743475-80743476
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	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
2	chr3:64009122..64009628-chr7:80743049..80743848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10085759	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10224681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261354	0.82[ASN][1000 genomes]
rs10261594	0.82[ASN][1000 genomes]
rs10265617	1.00[JPT][hapmap]
rs10268721	1.00[JPT][hapmap]
rs10279257	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12533139	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1528386	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1528389	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1881540	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1881543	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1919368	0.82[ASN][1000 genomes]
rs2204723	0.82[ASN][1000 genomes]
rs2367224	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3857864	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3914077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3914079	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3915317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4096939	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6467571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968624	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6968832	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7357269	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888552	chr7:80683308-80755310	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv888553	chr7:80683308-80766407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv888554	chr7:80695828-80755310	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv888555	chr7:80695828-80766407	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80740200-80743600	Enhancers	Colon Smooth Muscle	Colon
2	chr7:80741400-80744000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:80741400-80744000	Weak transcription	HMEC	breast
4	chr7:80741400-80746600	Weak transcription	Fetal Lung	lung
5	chr7:80741600-80744000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:80741600-80744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:80742400-80743800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:80742400-80744200	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:80742400-80748800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:80743400-80743600	Enhancers	HUES64 Cell Line	embryonic stem cell

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