Variant report

Variant	rs12826072
Chromosome Location	chr12:62701966-62701967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62688856..62691778-chr12:62700983..62703361,2	MCF-7	breast:
2	chr12:62700290..62703932-chr12:62705141..62707434,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11174402	0.95[EUR][1000 genomes]
rs11174406	0.97[EUR][1000 genomes]
rs11174407	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11174414	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11174415	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174443	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11174444	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11174454	0.95[EUR][1000 genomes]
rs11174457	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11174461	0.82[MEX][hapmap]
rs11174462	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11174476	0.94[EUR][1000 genomes]
rs11174479	1.00[CEU][hapmap]
rs12811821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12814369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12816968	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12818818	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12821047	0.92[EUR][1000 genomes]
rs12821894	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34007988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34162598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34251904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34339271	0.97[EUR][1000 genomes]
rs35360491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35533759	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71465148	0.97[EUR][1000 genomes]
rs71465151	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7972031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap]
rs7973386	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7978244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:62686800-62704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:62687000-62702000	Weak transcription	Gastric	stomach
6	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
8	chr12:62689400-62716000	Weak transcription	Colonic Mucosa	Colon
9	chr12:62689600-62717400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:62690200-62702000	Weak transcription	Left Ventricle	heart
11	chr12:62691200-62716400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
13	chr12:62691200-62736600	Weak transcription	Lung	lung
14	chr12:62691800-62706000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:62693200-62711800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:62695600-62702600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:62695800-62702200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr12:62696000-62702400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:62696200-62703200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:62696200-62706400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:62696400-62702000	Strong transcription	Placenta	Placenta
22	chr12:62696400-62702200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:62696400-62702200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:62696400-62702400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:62696400-62702400	Strong transcription	Liver	Liver
26	chr12:62696400-62702400	Strong transcription	Fetal Thymus	thymus
27	chr12:62696600-62702400	Strong transcription	HSMM	muscle
28	chr12:62696800-62702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:62696800-62702400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:62697000-62702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:62697400-62702400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:62697800-62702400	Strong transcription	Fetal Kidney	kidney
33	chr12:62698000-62702400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:62698200-62702600	Genic enhancers	K562	blood
35	chr12:62698400-62702400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:62698400-62717600	Weak transcription	Brain Germinal Matrix	brain
37	chr12:62698400-62741800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:62698600-62702000	Weak transcription	Psoas Muscle	Psoas
39	chr12:62698600-62702400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:62698600-62702400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:62698600-62702400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:62698600-62704400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:62698600-62707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:62698600-62707800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:62698600-62707800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:62698600-62712000	Weak transcription	Small Intestine	intestine
47	chr12:62698600-62715200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:62698600-62716400	Weak transcription	HepG2	liver
49	chr12:62698600-62720800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:62698600-62725800	Weak transcription	Brain Cingulate Gyrus	brain

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