Variant report

Variant	rs2191514
Chromosome Location	chr12:42295076-42295077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10459289	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880193	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880195	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880201	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880202	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880203	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880204	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880205	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880206	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880207	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880208	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880209	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880210	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880211	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181223	0.80[ASN][1000 genomes]
rs11181226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181249	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181253	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181258	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181260	0.81[AMR][1000 genomes]
rs11181263	0.81[AMR][1000 genomes]
rs11181266	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181267	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181268	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181270	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181271	0.81[AMR][1000 genomes]
rs12227860	0.80[ASN][1000 genomes]
rs12228308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306858	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313177	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541491	0.81[AMR][1000 genomes]
rs1541492	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2109533	0.81[AMR][1000 genomes]
rs2159587	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28540140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59711995	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60131564	1.00[EUR][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	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42294800-42301000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:42295000-42295200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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