Variant report

Variant	rs6832
Chromosome Location	chr12:9093001-9093002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10129061	0.95[CHB][hapmap]
rs1049925	0.86[JPT][hapmap]
rs10842660	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11048195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11048337	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11048338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs11048434	0.91[JPT][hapmap]
rs11611106	0.96[CEU][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.93[TSI][hapmap]
rs12821842	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs12823100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs12824212	0.91[JPT][hapmap]
rs1476911	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap]
rs1805248	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1805677	0.91[JPT][hapmap]
rs1805719	0.91[JPT][hapmap]
rs1805721	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap]
rs1805722	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs1805723	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap]
rs1805724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1805725	0.95[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1805727	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs1805732	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap]
rs1805733	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs1805735	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1805736	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs1805754	0.95[CHB][hapmap]
rs1805761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs1805765	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];0.95[TSI][hapmap]
rs2080116	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2159961	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs4309200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs4639983	0.95[CHB][hapmap]
rs933462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs987917	0.95[CHB][hapmap]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6832	TAS2R46	cis	cerebellum	SCAN
rs6832	M6PR	cis	cerebellum	SCAN
rs6832	CLEC1A	cis	parietal	SCAN
rs6832	SPSB2	cis	cerebellum	SCAN
rs6832	KLRG1	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
2	chr12:9068200-9094200	Weak transcription	Lung	lung
3	chr12:9068200-9094200	Weak transcription	Psoas Muscle	Psoas
4	chr12:9068200-9094200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:9068200-9094200	Weak transcription	Small Intestine	intestine
6	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
7	chr12:9069000-9094200	Weak transcription	NHLF	lung
8	chr12:9069400-9094000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:9069400-9094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:9072400-9094200	Weak transcription	NHEK	skin
13	chr12:9072800-9094200	Weak transcription	HSMM	muscle
14	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:9074200-9093800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:9074400-9094000	Weak transcription	HUVEC	blood vessel
17	chr12:9074600-9094000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:9075800-9094000	Weak transcription	HMEC	breast
19	chr12:9078000-9095800	Weak transcription	Fetal Heart	heart
20	chr12:9084200-9094200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:9084800-9094000	Weak transcription	NHDF-Ad	bronchial
22	chr12:9084800-9095800	Weak transcription	K562	blood
23	chr12:9085200-9094000	Weak transcription	Osteobl	bone
24	chr12:9086600-9094200	Weak transcription	Pancreas	Pancrea
25	chr12:9086800-9094000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:9087000-9093800	Weak transcription	A549	lung
27	chr12:9087000-9094000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:9087000-9094200	Weak transcription	Aorta	Aorta
29	chr12:9087000-9094200	Weak transcription	Esophagus	oesophagus
30	chr12:9087000-9094200	Weak transcription	HepG2	liver
31	chr12:9087000-9101200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:9087800-9093800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:9087800-9094000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:9087800-9094200	Weak transcription	Fetal Brain Male	brain
35	chr12:9087800-9094200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:9088400-9093800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:9088800-9094200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:9089800-9094000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:9089800-9094200	Weak transcription	Fetal Kidney	kidney
40	chr12:9090000-9094000	Weak transcription	Right Ventricle	heart
41	chr12:9090000-9094200	Weak transcription	Spleen	Spleen
42	chr12:9090000-9094400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:9090200-9093800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:9090200-9094000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:9090200-9094200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:9090200-9094200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:9090200-9094200	Weak transcription	Gastric	stomach
48	chr12:9090200-9094800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:9090400-9094000	Weak transcription	Liver	Liver
50	chr12:9090400-9094400	Weak transcription	HSMMtube	muscle

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