Variant report

Variant	rs6969953
Chromosome Location	chr7:80740418-80740419
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	chr7:80740054..80742115-chr7:80745636..80747771,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10225640	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10234328	0.90[ASN][1000 genomes]
rs10239474	0.90[ASN][1000 genomes]
rs10245648	0.81[JPT][hapmap]
rs12540085	0.83[ASN][1000 genomes]
rs1528736	0.83[ASN][1000 genomes]
rs1919369	0.83[ASN][1000 genomes]
rs2697221	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2697224	0.87[CEU][hapmap]
rs2697225	0.86[CEU][hapmap]
rs2697943	0.81[CEU][hapmap]
rs28796047	0.82[ASN][1000 genomes]
rs34344876	0.88[ASN][1000 genomes]
rs35758038	0.90[ASN][1000 genomes]
rs35876610	0.90[ASN][1000 genomes]
rs3843546	0.90[ASN][1000 genomes]
rs3891957	0.90[ASN][1000 genomes]
rs3891958	0.90[ASN][1000 genomes]
rs3902760	0.89[ASN][1000 genomes]
rs4732107	0.90[ASN][1000 genomes]
rs4732109	0.90[ASN][1000 genomes]
rs58692795	0.90[ASN][1000 genomes]
rs61059308	0.90[ASN][1000 genomes]
rs62467389	0.84[ASN][1000 genomes]
rs6951995	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6955164	0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6957232	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6959189	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6969190	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6971951	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6973162	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73384423	0.84[ASN][1000 genomes]
rs7786639	0.90[ASN][1000 genomes]
rs953191	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80738400-80743400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:80739400-80740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:80739600-80740800	Enhancers	A549	lung
4	chr7:80739800-80740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:80739800-80741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80739800-80741400	Enhancers	HMEC	breast
7	chr7:80739800-80741400	Enhancers	HSMM	muscle
8	chr7:80739800-80741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:80739800-80742400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:80739800-80742400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:80739800-80743200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80740200-80741400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:80740200-80741400	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:80740200-80741400	Enhancers	Fetal Lung	lung
15	chr7:80740200-80741400	Enhancers	NHDF-Ad	bronchial
16	chr7:80740200-80741600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:80740200-80741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:80740200-80741800	Enhancers	NH-A	brain
19	chr7:80740200-80741800	Enhancers	Osteobl	bone
20	chr7:80740200-80742400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:80740200-80743600	Enhancers	Colon Smooth Muscle	Colon
22	chr7:80740400-80740800	Weak transcription	HSMMtube	muscle
23	chr7:80740400-80741200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:80740400-80741400	Enhancers	Rectal Smooth Muscle	rectum

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