Variant report

Variant	rs10880855
Chromosome Location	chr12:46144855-46144856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10748432	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880859	0.91[EUR][1000 genomes]
rs10880860	0.88[EUR][1000 genomes]
rs10880871	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs11183201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11183234	0.81[GIH][hapmap]
rs11183243	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12314770	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs12319077	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12320533	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1366024	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap]
rs1468993	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1863127	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2059404	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2193749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2216470	0.82[JPT][hapmap]
rs2408435	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs247918	0.91[CEU][hapmap];0.88[CHB][hapmap]
rs247920	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs247929	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap]
rs247930	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs35115	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs35117	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs35121	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs35122	0.96[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap]
rs35125	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs6582574	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs67133230	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7132422	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7138997	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs724909	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs7306229	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7315731	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7955891	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7976870	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46125000-46161200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46125200-46146400	Weak transcription	Left Ventricle	heart
3	chr12:46125200-46156000	Weak transcription	Small Intestine	intestine
4	chr12:46125400-46152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:46126400-46146000	Weak transcription	Right Ventricle	heart
6	chr12:46126400-46149600	Weak transcription	Right Atrium	heart
7	chr12:46126400-46161200	Weak transcription	Aorta	Aorta
8	chr12:46127200-46147600	Weak transcription	Colonic Mucosa	Colon
9	chr12:46127200-46150400	Weak transcription	NHLF	lung
10	chr12:46127200-46161200	Weak transcription	HMEC	breast
11	chr12:46127400-46147600	Weak transcription	Fetal Heart	heart
12	chr12:46127400-46153600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:46127400-46154800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:46127400-46156000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:46127800-46149000	Weak transcription	Brain Substantia Nigra	brain
16	chr12:46128000-46148000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:46128200-46164600	Weak transcription	Esophagus	oesophagus
18	chr12:46129200-46156600	Weak transcription	HepG2	liver
19	chr12:46129400-46156000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:46129600-46145400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:46130000-46147800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:46130400-46147600	Weak transcription	Osteobl	bone
23	chr12:46131200-46149200	Weak transcription	Placenta	Placenta
24	chr12:46131200-46149800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:46131200-46160800	Weak transcription	NHEK	skin
26	chr12:46131400-46145000	Weak transcription	Gastric	stomach
27	chr12:46131400-46145200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:46131400-46156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:46131600-46147000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:46131600-46150600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:46131800-46156000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:46132000-46161800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:46132000-46205200	Weak transcription	HSMM	muscle
34	chr12:46132200-46165000	Weak transcription	Lung	lung
35	chr12:46135400-46155400	Weak transcription	HUVEC	blood vessel
36	chr12:46135600-46150400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:46136200-46148000	Weak transcription	Fetal Brain Female	brain
38	chr12:46136200-46148600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:46136400-46150800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:46136400-46159400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:46136600-46157800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:46136800-46150800	Weak transcription	Fetal Lung	lung
43	chr12:46136800-46151000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:46136800-46151200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:46136800-46153200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:46136800-46156200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:46137000-46146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:46137000-46150400	Weak transcription	Fetal Stomach	stomach
49	chr12:46137200-46150400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:46137200-46156000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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