Variant report

Variant	rs10517220
Chromosome Location	chr4:30862363-30862364
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	chr4:30860982..30862636-chr4:30867110..30869327,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11721929	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11722675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724608	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11725568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726296	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727832	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732061	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11732391	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11734204	0.85[EUR][1000 genomes]
rs11929796	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935856	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937211	0.87[GIH][hapmap]
rs11939033	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11945622	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12648636	1.00[JPT][hapmap]
rs1447368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718569	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17719504	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393067	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28884596	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813421	0.86[EUR][1000 genomes]
rs6817713	0.87[GIH][hapmap]
rs6817721	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6818328	0.88[EUR][1000 genomes]
rs6825940	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6833448	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837246	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6839018	0.86[EUR][1000 genomes]
rs73213200	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73214903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214908	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214909	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214917	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214925	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73214928	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214930	0.88[EUR][1000 genomes]
rs73214938	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73214944	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73214947	0.85[EUR][1000 genomes]
rs73214950	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73214953	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73812667	0.86[EUR][1000 genomes]
rs7439866	0.87[GIH][hapmap]
rs7670614	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7676204	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30849200-30872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30855600-30867400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:30856200-30868600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:30857200-30868200	Weak transcription	Aorta	Aorta
6	chr4:30859400-30864200	Weak transcription	Fetal Lung	lung
7	chr4:30859800-30864200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:30860600-30864800	Weak transcription	Fetal Heart	heart
9	chr4:30860800-30862800	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:30861800-30868000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:30862000-30863200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:30862200-30863200	Enhancers	NHEK	skin

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