Variant report

Variant	rs9791294
Chromosome Location	chr6:109992722-109992723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1321329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1406898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1535419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570391	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17070632	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17070657	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17070666	0.88[ASN][1000 genomes]
rs17070692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17070701	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17070705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17070733	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070737	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070774	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17070803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17070833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17070875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17070915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17070921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17070937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2273896	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3778479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3799844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799850	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3823233	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41439948	0.88[ASN][1000 genomes]
rs4454171	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57181024	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57996937	0.93[ASN][1000 genomes]
rs58273806	0.93[ASN][1000 genomes]
rs58630019	0.81[ASN][1000 genomes]
rs58731181	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59203807	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59626863	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60108304	0.88[ASN][1000 genomes]
rs60927725	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61374793	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61522207	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61671496	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6905490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs73520933	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9487130	0.88[ASN][1000 genomes]
rs9487131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9487143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026012	chr6:109851638-109999379	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv604484	chr6:109851937-109997529	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949475	chr6:109907936-110160501	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv933105	chr6:109933270-110064342	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv817322	chr6:109933272-110070574	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv830769	chr6:109944334-110078120	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv604485	chr6:109959269-110054486	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109948000-109995000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:109954400-109994800	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:109961400-110000800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:109961600-110000600	Weak transcription	Thymus	Thymus
5	chr6:109965200-110000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:109966800-109993200	Weak transcription	Adipose Nuclei	Adipose
7	chr6:109967800-109997000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:109976000-109992800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:109978000-110010600	Weak transcription	Brain Germinal Matrix	brain
10	chr6:109979600-110000600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:109980200-109999800	Weak transcription	Pancreas	Pancrea
12	chr6:109980600-109998600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:109980600-110011200	Weak transcription	Fetal Thymus	thymus
14	chr6:109982600-109992800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:109983600-110000800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:109985200-110000800	Weak transcription	Spleen	Spleen
17	chr6:109986800-109994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:109987200-109998400	Weak transcription	Aorta	Aorta
19	chr6:109988200-109998600	Weak transcription	Fetal Heart	heart
20	chr6:109988600-109998000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:109989200-109995400	Weak transcription	Fetal Stomach	stomach
22	chr6:109989200-109998200	Weak transcription	Small Intestine	intestine
23	chr6:109989400-109997600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:109989400-110011400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:109989600-109994200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:109990000-110010600	Weak transcription	Fetal Intestine Small	intestine
27	chr6:109990800-109995000	Enhancers	HUVEC	blood vessel
28	chr6:109991000-109999600	Weak transcription	Primary T cells from cord blood	blood
29	chr6:109991200-109995000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:109991200-109995600	Weak transcription	Ovary	ovary
31	chr6:109991400-110007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:109991400-110010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:109992000-110011200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:109992200-109993000	Strong transcription	Liver	Liver
35	chr6:109992200-109994600	Enhancers	NHDF-Ad	bronchial
36	chr6:109992400-109993600	Enhancers	Osteobl	bone
37	chr6:109992400-109993800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:109992400-109994600	Enhancers	NHLF	lung
39	chr6:109992400-110011400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:109992600-109992800	Genic enhancers	Left Ventricle	heart
41	chr6:109992600-109992800	Enhancers	HSMMtube	muscle
42	chr6:109992600-109993000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:109992600-109993000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:109992600-109993000	Enhancers	NH-A	brain
45	chr6:109992600-109993200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:109992600-109993400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:109992600-109993600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:109992600-109993600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:109992600-109993600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:109992600-109993800	Strong transcription	Primary B cells from cord blood	blood

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