Variant report

Variant	rs12580114
Chromosome Location	chr12:105219753-105219754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104775264..104776293-chr12:105218866..105219841,5	MCF-7	breast:
2	chr12:104775369..104776163-chr12:105218864..105219841,3	K562	blood:
3	chr12:105128010..105128991-chr12:105218995..105219838,4	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1038969	0.81[ASN][1000 genomes]
rs10778350	0.86[EUR][1000 genomes]
rs11112189	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11834087	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12307301	0.86[EUR][1000 genomes]
rs12320887	0.86[EUR][1000 genomes]
rs12321404	0.86[EUR][1000 genomes]
rs12579202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579469	0.85[ASN][1000 genomes]
rs12579505	0.82[ASN][1000 genomes]
rs12579945	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12580128	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580794	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12582312	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036358	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17036429	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036433	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17036489	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17036545	0.85[ASN][1000 genomes]
rs4369494	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4545639	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57144501	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57685442	0.86[ASN][1000 genomes]
rs59079144	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60976244	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61129422	0.90[ASN][1000 genomes]
rs61262317	0.86[EUR][1000 genomes]
rs61587191	0.86[EUR][1000 genomes]
rs7302213	0.86[EUR][1000 genomes]
rs73383408	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73383420	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73383435	0.86[ASN][1000 genomes]
rs73383439	0.81[ASN][1000 genomes]
rs73383441	0.86[ASN][1000 genomes]
rs73383467	0.85[ASN][1000 genomes]
rs73383473	0.85[ASN][1000 genomes]
rs73394174	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73394185	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73394186	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73396157	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73396159	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73399912	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399925	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399927	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399929	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399931	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73399934	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399944	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399947	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73399956	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399960	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399968	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7971315	0.86[EUR][1000 genomes]
rs7971613	0.86[EUR][1000 genomes]
rs7976092	0.84[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105201400-105220600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:105211000-105237600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:105214200-105221800	Weak transcription	Pancreas	Pancrea
4	chr12:105217800-105219800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:105218000-105220000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr12:105218200-105219800	ZNF genes & repeats	Gastric	stomach
7	chr12:105218200-105220000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr12:105218400-105220000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr12:105218400-105220400	ZNF genes & repeats	Aorta	Aorta
10	chr12:105218400-105220400	ZNF genes & repeats	Fetal Stomach	stomach
11	chr12:105218400-105220400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
12	chr12:105218400-105220800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr12:105219200-105219800	ZNF genes & repeats	Colonic Mucosa	Colon
14	chr12:105219200-105219800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
15	chr12:105219200-105220400	ZNF genes & repeats	Liver	Liver

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