Variant report

Variant	rs12653662
Chromosome Location	chr5:59639537-59639538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59630941..59633052-chr5:59638055..59640413,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10461373	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10461452	0.80[CEU][hapmap];0.92[GIH][hapmap];0.88[EUR][1000 genomes]
rs10461453	0.88[EUR][1000 genomes]
rs10514890	0.90[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10514891	0.90[CEU][hapmap];0.82[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10514892	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10514895	0.90[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs12656804	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12656836	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12656871	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs12659623	0.90[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13158470	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13158573	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13159724	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13178509	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13185075	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs16877859	0.86[CEU][hapmap];0.90[JPT][hapmap]
rs16877926	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs16877953	0.80[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap]
rs16877954	0.80[CEU][hapmap]
rs16877976	0.80[CEU][hapmap]
rs34114616	0.85[EUR][1000 genomes]
rs34757284	0.85[EUR][1000 genomes]
rs34762984	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35022567	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35250060	0.85[EUR][1000 genomes]
rs35813355	0.85[EUR][1000 genomes]
rs35955333	0.84[EUR][1000 genomes]
rs4274945	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4276368	0.81[EUR][1000 genomes]
rs4515249	0.81[EUR][1000 genomes]
rs4699954	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4700373	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6880937	0.85[EUR][1000 genomes]
rs71628002	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71630003	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71630005	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7711093	0.81[ASW][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap]
rs7711621	0.86[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs7711707	0.85[EUR][1000 genomes]
rs7718384	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs7731452	0.85[EUR][1000 genomes]
rs7735398	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59637400-59642000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:59637800-59639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59637800-59643600	Weak transcription	Aorta	Aorta
5	chr5:59638000-59649400	Weak transcription	Fetal Brain Female	brain
6	chr5:59638600-59642000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:59639200-59640200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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