Variant report

Variant	rs59233136
Chromosome Location	chr12:50126839-50126840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50124526..50128739-chr12:50133902..50136984,5	MCF-7	breast:
2	chr12:50065718..50069326-chr12:50125302..50127957,3	K562	blood:
3	chr12:50019034..50020967-chr12:50124868..50127117,2	K562	blood:
4	chr12:50123032..50130125-chr12:50133371..50137777,14	K562	blood:
5	chr12:50124784..50128390-chr12:50220110..50223183,3	MCF-7	breast:
6	chr12:50124196..50127641-chr12:50133833..50137234,3	K562	blood:

Variant related genes	Relation type
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1049986	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10875964	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10875968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169069	0.81[ASN][1000 genomes]
rs11169073	0.81[ASN][1000 genomes]
rs11169076	0.81[ASN][1000 genomes]
rs11169080	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169081	0.81[ASN][1000 genomes]
rs11169082	0.81[ASN][1000 genomes]
rs11169092	0.86[ASN][1000 genomes]
rs11169097	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11169101	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169104	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169106	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169109	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169111	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169112	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169113	0.85[AMR][1000 genomes]
rs11169118	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169125	0.89[AMR][1000 genomes]
rs11169127	0.87[AMR][1000 genomes]
rs11169133	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11615488	0.95[ASN][1000 genomes]
rs11833411	0.86[ASN][1000 genomes]
rs11834380	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12296586	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12299505	0.86[ASN][1000 genomes]
rs12299513	0.86[ASN][1000 genomes]
rs12301824	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12303310	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12304796	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12305460	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12308256	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12309940	0.92[ASN][1000 genomes]
rs12310510	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12311839	0.81[ASN][1000 genomes]
rs12314795	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12314878	0.81[ASN][1000 genomes]
rs12315224	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12315791	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12316284	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12317646	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12320556	0.81[ASN][1000 genomes]
rs12321169	0.89[AMR][1000 genomes]
rs12321819	0.81[ASN][1000 genomes]
rs13066	0.81[ASN][1000 genomes]
rs13906	0.81[ASN][1000 genomes]
rs1470906	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1574326	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17123808	0.81[ASN][1000 genomes]
rs17123981	0.87[AMR][1000 genomes]
rs2005195	0.81[ASN][1000 genomes]
rs2241418	0.81[ASN][1000 genomes]
rs2278068	0.81[ASN][1000 genomes]
rs2278069	0.81[ASN][1000 genomes]
rs2336058	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2878532	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3815832	0.81[ASN][1000 genomes]
rs3887727	0.83[EUR][1000 genomes]
rs3887728	0.81[ASN][1000 genomes]
rs4045193	0.86[ASN][1000 genomes]
rs4073998	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4133070	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4563	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4584654	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55853522	0.81[ASN][1000 genomes]
rs57191490	0.94[ASN][1000 genomes]
rs57342147	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57463238	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58278271	0.83[ASN][1000 genomes]
rs58446833	0.87[AMR][1000 genomes]
rs59849800	0.87[AMR][1000 genomes]
rs59940006	0.81[ASN][1000 genomes]
rs60121503	0.94[ASN][1000 genomes]
rs60402517	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61512987	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61616163	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61620972	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61710637	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6580719	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7131915	0.81[ASN][1000 genomes]
rs7136052	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7137976	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7296281	0.81[ASN][1000 genomes]
rs7299002	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7299609	0.85[EUR][1000 genomes]
rs7301209	0.81[ASN][1000 genomes]
rs7306877	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309607	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312658	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313738	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73305008	0.81[ASN][1000 genomes]
rs73305012	0.81[ASN][1000 genomes]
rs73305085	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73305098	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73306808	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73309030	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74089182	0.94[ASN][1000 genomes]
rs7688	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7952734	0.97[ASN][1000 genomes]
rs7953911	0.81[ASN][1000 genomes]
rs7954994	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7955586	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956089	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956181	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7962645	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7962863	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963954	0.92[ASN][1000 genomes]
rs7965658	0.83[ASN][1000 genomes]
rs7967624	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7970241	0.81[ASN][1000 genomes]
rs7973389	0.81[ASN][1000 genomes]
rs7975599	0.81[ASN][1000 genomes]
rs7977389	0.81[ASN][1000 genomes]
rs7979262	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7979285	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7980979	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8626	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs897056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804749	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804971	0.89[AMR][1000 genomes];0.91[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50125800-50127400	Weak transcription	HepG2	liver

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