Variant report

Variant	rs12474673
Chromosome Location	chr2:205478082-205478083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10084275	0.85[EUR][1000 genomes]
rs10170405	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10174747	0.87[EUR][1000 genomes]
rs10175139	0.83[EUR][1000 genomes]
rs10198136	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10490268	0.88[EUR][1000 genomes]
rs10932077	0.85[EUR][1000 genomes]
rs10932079	0.86[EUR][1000 genomes]
rs10932080	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11674084	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675511	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675555	0.86[EUR][1000 genomes]
rs11680708	0.81[ASN][1000 genomes]
rs12474806	0.88[EUR][1000 genomes]
rs12614238	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621786	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694004	0.88[EUR][1000 genomes]
rs12986544	0.87[EUR][1000 genomes]
rs13017644	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13024650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1447497	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1861766	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1868068	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2111447	0.87[EUR][1000 genomes]
rs2193449	0.86[EUR][1000 genomes]
rs2193450	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197691	0.86[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2216318	0.86[EUR][1000 genomes]
rs2216319	0.85[EUR][1000 genomes]
rs2334802	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4673307	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6713748	0.84[EUR][1000 genomes]
rs6721452	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6731575	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7568847	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7587284	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7590330	0.88[EUR][1000 genomes]
rs7595939	0.89[EUR][1000 genomes]
rs7600675	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7603507	0.86[EUR][1000 genomes]
rs7609521	0.88[EUR][1000 genomes]
rs763832	0.88[EUR][1000 genomes]
rs9283519	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205473200-205481000	Weak transcription	Aorta	Aorta
2	chr2:205475400-205481000	Weak transcription	Pancreas	Pancrea
3	chr2:205476000-205486600	Weak transcription	Gastric	stomach
4	chr2:205476200-205480400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:205476200-205481000	Weak transcription	Ovary	ovary
6	chr2:205477000-205491800	Weak transcription	Fetal Lung	lung
7	chr2:205477200-205478400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:205477200-205478800	Enhancers	Liver	Liver
9	chr2:205477200-205480200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:205477200-205480400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:205477400-205478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:205477600-205478200	Enhancers	HUVEC	blood vessel
13	chr2:205477600-205478400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:205477600-205478400	Enhancers	Colon Smooth Muscle	Colon
15	chr2:205477600-205478400	Enhancers	Osteobl	bone
16	chr2:205477800-205478800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:205477800-205479000	Enhancers	Fetal Intestine Large	intestine
18	chr2:205478000-205478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:205478000-205478200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:205478000-205478200	Enhancers	HSMM	muscle
21	chr2:205478000-205478800	Enhancers	Fetal Intestine Small	intestine
22	chr2:205478000-205478800	Enhancers	HepG2	liver

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