Variant report

Variant	rs639293
Chromosome Location	chr8:69986399-69986400
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	chr8:69764800..69767559-chr8:69983778..69986408,3	MCF-7	breast:
2	chr8:69754552..69756282-chr8:69983861..69986611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10957460	1.00[ASN][1000 genomes]
rs10957461	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11774986	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13252637	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13272381	0.87[ASN][1000 genomes]
rs1344616	1.00[ASN][1000 genomes]
rs1344617	0.94[ASN][1000 genomes]
rs1344618	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1344619	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1365412	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1365416	0.95[AFR][1000 genomes]
rs1365418	1.00[ASN][1000 genomes]
rs1426595	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465514	0.96[ASN][1000 genomes]
rs1465515	0.96[ASN][1000 genomes]
rs1541762	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1965050	0.96[ASN][1000 genomes]
rs1965698	0.99[ASN][1000 genomes]
rs2042734	1.00[ASN][1000 genomes]
rs2162353	1.00[ASN][1000 genomes]
rs2217103	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2912509	1.00[ASN][1000 genomes]
rs2912510	1.00[ASN][1000 genomes]
rs2912515	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2912520	0.95[AFR][1000 genomes]
rs2981044	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2981045	1.00[ASN][1000 genomes]
rs2981047	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981049	1.00[ASN][1000 genomes]
rs2981053	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2981056	1.00[ASN][1000 genomes]
rs2981057	1.00[ASN][1000 genomes]
rs2981058	1.00[ASN][1000 genomes]
rs2981059	1.00[ASN][1000 genomes]
rs2981061	0.93[ASN][1000 genomes]
rs2981062	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981063	1.00[ASN][1000 genomes]
rs2981065	1.00[ASN][1000 genomes]
rs2981066	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34771267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358809	0.96[ASN][1000 genomes]
rs473477	0.95[CHB][hapmap]
rs608067	0.95[CHB][hapmap]
rs609760	0.95[CHB][hapmap]
rs612423	0.95[CHB][hapmap]
rs623006	0.85[AFR][1000 genomes]
rs62511793	0.88[EUR][1000 genomes]
rs6472436	0.95[ASN][1000 genomes]
rs7007693	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835428	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv890987	chr8:69959105-70004698	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69982400-69988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:69984200-69988200	Enhancers	NHDF-Ad	bronchial
3	chr8:69984400-69986600	Weak transcription	NHLF	lung
4	chr8:69985000-69991600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:69985400-69987000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:69985600-69988200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:69985600-69992800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:69985800-69986800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:69985800-69988200	Enhancers	Osteobl	bone
10	chr8:69985800-69988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:69986000-69986600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:69986000-69986800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:69986000-69986800	Enhancers	HSMMtube	muscle
14	chr8:69986000-69987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:69986000-69987200	Enhancers	NH-A	brain
16	chr8:69986000-69987400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:69986000-69989000	Enhancers	HSMM	muscle
18	chr8:69986000-69989200	Enhancers	Fetal Lung	lung
19	chr8:69986200-69986600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:69986200-69987200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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