Variant report

Variant	rs6892315
Chromosome Location	chr5:54090159-54090160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10036257	0.89[ASN][1000 genomes]
rs10036606	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10039924	1.00[ASN][1000 genomes]
rs10042288	0.89[ASN][1000 genomes]
rs10042394	0.89[ASN][1000 genomes]
rs10042495	0.89[ASN][1000 genomes]
rs10045175	0.89[ASN][1000 genomes]
rs10045765	0.89[ASN][1000 genomes]
rs10045790	1.00[ASN][1000 genomes]
rs10050561	0.99[ASN][1000 genomes]
rs10053168	0.92[ASN][1000 genomes]
rs10057871	0.89[ASN][1000 genomes]
rs10058571	0.89[ASN][1000 genomes]
rs10058862	0.89[ASN][1000 genomes]
rs10061958	0.93[ASN][1000 genomes]
rs10066294	0.87[ASN][1000 genomes]
rs10066622	0.89[ASN][1000 genomes]
rs10068073	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071183	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073662	1.00[ASN][1000 genomes]
rs10073721	1.00[ASN][1000 genomes]
rs10073837	0.89[ASN][1000 genomes]
rs10434559	0.99[ASN][1000 genomes]
rs10461588	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10471923	0.89[ASN][1000 genomes]
rs1073709	0.89[ASN][1000 genomes]
rs10737956	0.81[ASN][1000 genomes]
rs10805463	0.92[ASN][1000 genomes]
rs10805469	0.87[ASN][1000 genomes]
rs10940427	0.83[ASN][1000 genomes]
rs10940428	0.89[ASN][1000 genomes]
rs11950757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11952681	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11959080	0.99[ASN][1000 genomes]
rs12514244	0.89[ASN][1000 genomes]
rs12515327	0.87[ASN][1000 genomes]
rs12520494	0.87[ASN][1000 genomes]
rs12522199	0.89[ASN][1000 genomes]
rs13155441	0.89[ASN][1000 genomes]
rs13161386	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13161718	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13167527	0.89[ASN][1000 genomes]
rs13171964	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13173669	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13180287	0.89[ASN][1000 genomes]
rs13186826	0.89[ASN][1000 genomes]
rs1867685	0.89[ASN][1000 genomes]
rs4074332	0.86[JPT][hapmap]
rs4242044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242045	0.89[ASN][1000 genomes]
rs4242046	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4242047	0.87[ASN][1000 genomes]
rs4242048	0.85[ASN][1000 genomes]
rs4282277	0.99[ASN][1000 genomes]
rs4289528	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4290968	0.92[ASN][1000 genomes]
rs4292417	0.92[ASN][1000 genomes]
rs4298212	0.99[ASN][1000 genomes]
rs4320207	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4336310	0.92[ASN][1000 genomes]
rs4336311	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4356994	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362906	0.89[ASN][1000 genomes]
rs4437335	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4451013	0.86[ASN][1000 genomes]
rs4451014	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4457032	0.92[ASN][1000 genomes]
rs4498213	0.99[ASN][1000 genomes]
rs4515247	0.90[ASN][1000 genomes]
rs4519880	0.89[ASN][1000 genomes]
rs4527555	0.89[ASN][1000 genomes]
rs4527556	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4582235	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4591702	0.89[ASN][1000 genomes]
rs4610422	0.89[ASN][1000 genomes]
rs4645296	0.82[ASN][1000 genomes]
rs4865586	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs4865870	0.99[ASN][1000 genomes]
rs4865872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865873	0.92[ASN][1000 genomes]
rs4865874	0.92[ASN][1000 genomes]
rs4865875	0.89[ASN][1000 genomes]
rs4865876	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4865877	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59595173	0.88[ASN][1000 genomes]
rs59664922	0.93[ASN][1000 genomes]
rs60548640	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6450247	0.89[ASN][1000 genomes]
rs6450248	0.93[ASN][1000 genomes]
rs6450251	0.89[ASN][1000 genomes]
rs6450252	0.89[ASN][1000 genomes]
rs6450253	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6860729	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6860824	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs6863705	0.88[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6867867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887578	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6893903	0.80[EUR][1000 genomes]
rs6899052	0.92[ASN][1000 genomes]
rs73126822	0.93[ASN][1000 genomes]
rs73126828	0.93[ASN][1000 genomes]
rs73126830	0.93[ASN][1000 genomes]
rs7446423	0.89[ASN][1000 genomes]
rs7446869	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7709225	0.90[ASN][1000 genomes]
rs7709401	0.90[ASN][1000 genomes]
rs7726707	0.93[ASN][1000 genomes]
rs7728303	0.89[ASN][1000 genomes]
rs7731103	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9292072	0.93[ASN][1000 genomes]
rs9292073	1.00[ASN][1000 genomes]
rs9292074	0.89[ASN][1000 genomes]
rs9687636	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9968754	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2754136	chr5:54083387-54107727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54073000-54097600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54087400-54090400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:54087600-54103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:54087800-54092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:54088400-54091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:54088400-54091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:54088600-54090200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:54088600-54090600	Enhancers	Fetal Stomach	stomach
9	chr5:54088600-54091800	Enhancers	Stomach Mucosa	stomach
10	chr5:54088800-54090200	Enhancers	Right Atrium	heart
11	chr5:54088800-54090400	Enhancers	Placenta	Placenta
12	chr5:54088800-54090400	Enhancers	NHDF-Ad	bronchial
13	chr5:54088800-54091000	Enhancers	Aorta	Aorta
14	chr5:54089000-54092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:54089400-54090400	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:54089400-54090600	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:54089400-54090800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:54089600-54090200	Weak transcription	HSMMtube	muscle
19	chr5:54089600-54091200	Weak transcription	NHLF	lung
20	chr5:54089800-54091200	Enhancers	Fetal Thymus	thymus
21	chr5:54090000-54091200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr5:54090000-54091400	Weak transcription	Colon Smooth Muscle	Colon

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