Variant report

Variant	rs6839998
Chromosome Location	chr4:47211774-47211775
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001018	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10001568	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10002370	0.86[CEU][hapmap];0.81[CHB][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017581	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10025913	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs10034675	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10805151	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10805152	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10938473	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10938474	1.00[JPT][hapmap]
rs10938477	0.86[CEU][hapmap];0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12500569	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502432	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12505780	0.80[ASN][1000 genomes]
rs13117729	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13135929	0.81[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372487	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1372493	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1372495	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1372496	0.81[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1442093	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442094	0.86[CEU][hapmap];0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442095	0.81[CHB][hapmap]
rs1442098	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1442104	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1442106	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542097	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1561776	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1596139	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs2044084	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs2882622	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4508858	0.81[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694836	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4694837	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4695193	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4695195	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4695196	0.81[CHB][hapmap]
rs6447535	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6447536	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6447537	0.81[CHB][hapmap]
rs6827925	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6832403	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6839184	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs6842392	0.81[CHB][hapmap]
rs6847023	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6854338	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7660765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7672580	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7672757	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7684997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7689895	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9762551	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs988944	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs994447	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9991346	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv1013512	chr4:47178547-47213133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv537079	chr4:47178547-47213133	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47209200-47215600	Weak transcription	Fetal Heart	heart
2	chr4:47211200-47213200	Enhancers	NH-A	brain
3	chr4:47211400-47213400	Enhancers	Osteobl	bone
4	chr4:47211400-47213800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:47211600-47211800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:47211600-47211800	Enhancers	NHLF	lung
7	chr4:47211600-47212000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:47211600-47212000	Enhancers	HSMMtube	muscle
9	chr4:47211600-47212600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:47211600-47212600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:47211600-47213200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:47211600-47213200	Enhancers	HMEC	breast
13	chr4:47211600-47213200	Enhancers	HSMM	muscle
14	chr4:47211600-47217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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