Variant report

Variant	rs12712069
Chromosome Location	chr2:100766354-100766355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100750345..100752144-chr2:100764723..100766529,2	MCF-7	breast:
2	chr2:100761253..100763849-chr2:100766044..100767965,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10185059	0.81[ASN][1000 genomes]
rs10185510	0.81[ASN][1000 genomes]
rs10197987	0.81[ASN][1000 genomes]
rs11123808	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11123813	0.81[ASN][1000 genomes]
rs11677607	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11679078	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11680485	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680586	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11682173	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686599	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11689956	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691486	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11692215	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11891046	0.81[ASN][1000 genomes]
rs11899489	0.81[ASN][1000 genomes]
rs12712067	0.80[ASN][1000 genomes]
rs12712068	0.81[ASN][1000 genomes]
rs12712071	0.81[ASN][1000 genomes]
rs12712072	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13000759	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13010436	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13011181	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13011874	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13019618	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022707	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13028981	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13415465	0.81[ASN][1000 genomes]
rs13415583	0.81[ASN][1000 genomes]
rs1370353	0.81[ASN][1000 genomes]
rs1821826	0.81[ASN][1000 genomes]
rs1821827	0.81[ASN][1000 genomes]
rs2009094	0.81[ASN][1000 genomes]
rs2009095	0.81[ASN][1000 genomes]
rs3748927	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4490209	0.80[ASN][1000 genomes]
rs4850920	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4850921	0.80[ASN][1000 genomes]
rs4851254	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851256	0.81[ASN][1000 genomes]
rs4851257	0.81[ASN][1000 genomes]
rs4851262	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713524	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7583067	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7590378	0.81[ASN][1000 genomes]
rs7593261	0.81[ASN][1000 genomes]
rs7596385	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:100763400-100766600	Weak transcription	Primary B cells from peripheral blood	blood

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