Variant report

Variant	rs12316670
Chromosome Location	chr12:120462707-120462708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120451912..120458058-chr12:120461710..120466479,5	K562	blood:
2	chr12:120462600..120465002-chr12:120472760..120475274,2	MCF-7	breast:
3	chr12:120462029..120464430-chr12:120473662..120476125,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10161261	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849733	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10849734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064985	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065019	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11065024	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12307887	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313412	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321330	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425507	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13377680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59709506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748076	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73410877	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7957793	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964301	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970773	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974285	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120452000-120465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:120452200-120475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:120453000-120467600	Weak transcription	Hela-S3	cervix
4	chr12:120453200-120463200	Weak transcription	Thymus	Thymus
5	chr12:120454000-120478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:120454200-120468200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:120454200-120477800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:120454200-120478400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:120454400-120471400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:120454600-120470000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120454600-120479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:120456200-120465800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:120462000-120463200	Weak transcription	Esophagus	oesophagus
15	chr12:120462400-120462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:120462400-120463200	Weak transcription	Primary T cells from cord blood	blood
17	chr12:120462400-120465600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:120462400-120478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links