Variant report

Variant	rs6748308
Chromosome Location	chr2:56568755-56568756
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	chr11:78431114..78431635-chr2:56568356..56568877,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10172020	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs10175691	0.92[CHB][hapmap]
rs10200604	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10203280	0.90[JPT][hapmap]
rs11125619	0.90[JPT][hapmap]
rs11125621	0.94[JPT][hapmap]
rs11125622	0.90[JPT][hapmap]
rs11886381	0.92[CHB][hapmap]
rs11893331	0.89[EUR][1000 genomes]
rs12233052	0.85[ASN][1000 genomes]
rs12467246	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13021782	0.85[CHB][hapmap]
rs13389344	0.83[CHB][hapmap]
rs13393981	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1549031	0.83[CHB][hapmap]
rs17047781	0.86[JPT][hapmap]
rs17047802	0.81[JPT][hapmap]
rs17047851	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17047854	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs17047856	0.92[CHB][hapmap]
rs17268785	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4671278	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4672106	0.92[CHB][hapmap]
rs4672109	0.94[JPT][hapmap]
rs4672110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs56140649	0.81[EUR][1000 genomes]
rs6545572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs6545574	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6704684	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6714635	0.85[CHB][hapmap]
rs6732854	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6735003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs6747380	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs6756427	0.85[EUR][1000 genomes]
rs6760269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7355411	0.92[CHB][hapmap]
rs7562381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs7566597	0.92[CHB][hapmap]
rs7573049	0.89[EUR][1000 genomes]
rs7602657	0.82[EUR][1000 genomes]
rs9309278	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56560600-56575400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:56562400-56577600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56564800-56574200	Weak transcription	HSMM	muscle
4	chr2:56566400-56572800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:56566400-56575200	Weak transcription	Fetal Heart	heart
6	chr2:56567000-56575200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:56567400-56573200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:56568600-56569000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:56568600-56571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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