Variant report

Variant	rs6996725
Chromosome Location	chr8:69642205-69642206
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	chr8:69641983..69644775-chr8:69764738..69766361,2	MCF-7	breast:
2	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12544474	0.88[GIH][hapmap]
rs16934967	0.81[ASW][hapmap];0.88[GIH][hapmap]
rs16934975	0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs56662213	0.93[ASN][1000 genomes]
rs6989590	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989754	0.95[ASN][1000 genomes]
rs7011532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73275944	0.95[ASN][1000 genomes]
rs73275950	0.94[ASN][1000 genomes]
rs7815302	0.95[ASN][1000 genomes]
rs7834973	0.93[ASN][1000 genomes]
rs7845270	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv818636	chr8:69636599-69642205	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69638000-69646400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:69640200-69645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:69640200-69676800	Weak transcription	Aorta	Aorta
4	chr8:69641000-69644400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:69641000-69644600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:69641200-69643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:69641200-69644200	Enhancers	NHLF	lung
8	chr8:69641400-69643600	Enhancers	NHDF-Ad	bronchial
9	chr8:69641400-69643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:69641600-69642400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:69641600-69643400	Enhancers	HMEC	breast
12	chr8:69641600-69643800	Enhancers	Osteobl	bone
13	chr8:69641600-69646400	Enhancers	Hela-S3	cervix
14	chr8:69641800-69642400	Enhancers	Fetal Lung	lung
15	chr8:69641800-69643400	Enhancers	HSMM	muscle
16	chr8:69642000-69642600	Enhancers	Fetal Brain Male	brain
17	chr8:69642000-69643200	Enhancers	NHEK	skin
18	chr8:69642000-69644000	Enhancers	HUVEC	blood vessel
19	chr8:69642200-69642400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:69642200-69642800	Enhancers	NH-A	brain
21	chr8:69642200-69643200	Enhancers	HSMMtube	muscle
22	chr8:69642200-69643800	Enhancers	A549	lung
23	chr8:69642200-69646600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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