Variant report

Variant	rs12474806
Chromosome Location	chr2:205478454-205478455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10084275	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10170405	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10174747	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10175139	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10198136	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10490268	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932077	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10932079	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932080	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11674084	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11675511	0.86[EUR][1000 genomes]
rs11675555	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11680708	0.84[EUR][1000 genomes]
rs12474673	0.88[EUR][1000 genomes]
rs12614238	0.87[EUR][1000 genomes]
rs12621786	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12694004	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13017644	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13024650	0.86[EUR][1000 genomes]
rs1447497	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1861766	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1868068	0.84[EUR][1000 genomes]
rs2111447	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2193449	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193450	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2197691	0.84[CEU][hapmap]
rs2216318	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2216319	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2334802	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4673307	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6721452	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7568847	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7587284	0.97[EUR][1000 genomes]
rs7590330	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7595939	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7600675	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7603507	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7609521	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs763832	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9283519	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[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:16 , 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	chr2:205477200-205478800	Enhancers	Liver	Liver
8	chr2:205477200-205480200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:205477200-205480400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:205477800-205478800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:205477800-205479000	Enhancers	Fetal Intestine Large	intestine
12	chr2:205478000-205478800	Enhancers	Fetal Intestine Small	intestine
13	chr2:205478000-205478800	Enhancers	HepG2	liver
14	chr2:205478200-205478600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:205478400-205478800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:205478400-205480000	Weak transcription	Colon Smooth Muscle	Colon

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