Variant report

Variant	rs2192779
Chromosome Location	chr2:40590749-40590750
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165478	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10168748	0.81[CHB][hapmap]
rs10171704	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10177941	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10178405	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10181006	0.87[ASN][1000 genomes]
rs10181007	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10189274	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10192458	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10490051	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11691852	0.97[ASN][1000 genomes]
rs12471797	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12613022	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12988856	0.81[CHB][hapmap]
rs12989200	0.81[CHB][hapmap]
rs12996962	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13022231	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13031340	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13031441	0.96[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13032770	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs1477002	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477004	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1477005	0.95[ASN][1000 genomes]
rs1861293	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2192773	0.89[ASN][1000 genomes]
rs2192776	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373857	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.97[ASN][1000 genomes]
rs2373859	0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2888676	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446101	0.86[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452199	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4452200	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4552227	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4588235	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4645043	0.82[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952409	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs6544324	0.82[CHB][hapmap]
rs6544330	0.82[CHB][hapmap]
rs6544333	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544334	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs6718322	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6738580	0.82[CHB][hapmap]
rs6745881	0.86[ASN][1000 genomes]
rs6747285	0.95[ASN][1000 genomes]
rs7424049	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7574340	0.86[ASN][1000 genomes]
rs7594786	0.80[ASN][1000 genomes]
rs7598561	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7599953	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs918002	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9309055	0.95[ASN][1000 genomes]
rs967351	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs981739	0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs984707	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.97[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:40586200-40590800	Weak transcription	Brain Anterior Caudate	brain
5	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart
6	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
7	chr2:40587600-40591000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40588400-40590800	Weak transcription	HMEC	breast
9	chr2:40588600-40590800	Weak transcription	HSMMtube	muscle
10	chr2:40589600-40591800	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:40590000-40590800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40590000-40590800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:40590000-40590800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:40590000-40591000	Enhancers	Osteobl	bone
15	chr2:40590200-40590800	Enhancers	Fetal Lung	lung
16	chr2:40590200-40592200	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:40590400-40590800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:40590400-40591000	Enhancers	Fetal Brain Female	brain
19	chr2:40590400-40591000	Enhancers	HSMM	muscle
20	chr2:40590400-40591600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:40590400-40591600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:40590400-40591800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:40590400-40592000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:40590400-40592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:40590400-40592400	Active TSS	Right Atrium	heart
26	chr2:40590600-40590800	Active TSS	Primary B cells from cord blood	blood
27	chr2:40590600-40590800	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:40590600-40590800	Enhancers	Adipose Nuclei	Adipose
29	chr2:40590600-40590800	Enhancers	Fetal Kidney	kidney
30	chr2:40590600-40590800	Weak transcription	Ovary	ovary
31	chr2:40590600-40590800	Flanking Active TSS	Hela-S3	cervix
32	chr2:40590600-40591000	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr2:40590600-40591000	Flanking Active TSS	NH-A	brain
34	chr2:40590600-40591000	Flanking Active TSS	NHDF-Ad	bronchial
35	chr2:40590600-40591000	Flanking Active TSS	NHLF	lung
36	chr2:40590600-40591400	Enhancers	A549	lung
37	chr2:40590600-40591800	Enhancers	Brain Germinal Matrix	brain
38	chr2:40590600-40592200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr2:40590600-40592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:40590600-40592400	Active TSS	Aorta	Aorta

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