Variant report

Variant	rs2485451
Chromosome Location	chr6:75460345-75460346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2152712	0.81[AMR][1000 genomes]
rs2152713	0.81[AMR][1000 genomes]
rs2243712	0.81[AMR][1000 genomes]
rs2485453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2502464	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502533	0.81[AMR][1000 genomes]
rs2502537	0.81[AMR][1000 genomes]
rs4280925	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4498305	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4708162	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62437815	0.95[ASN][1000 genomes]
rs62437859	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62438799	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910589	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746816	0.95[ASN][1000 genomes]
rs9360837	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520746	chr6:75211546-75691814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv917283	chr6:75234428-75641440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv830695	chr6:75409656-75583115	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv603759	chr6:75432861-75461657	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886169	chr6:75432861-75610722	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75458400-75460800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75458600-75460600	Enhancers	HMEC	breast
3	chr6:75458600-75460800	Enhancers	Colon Smooth Muscle	Colon
4	chr6:75459000-75460400	Enhancers	Osteobl	bone
5	chr6:75459000-75460600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:75459000-75460600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:75459000-75461000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:75459200-75460600	Enhancers	HUVEC	blood vessel
9	chr6:75459400-75464600	Weak transcription	Pancreas	Pancrea
10	chr6:75459600-75460400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:75459600-75460600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:75459600-75460600	Enhancers	NHEK	skin
13	chr6:75459800-75460400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:75459800-75465400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:75460000-75460400	Enhancers	Gastric	stomach
16	chr6:75460000-75460400	Enhancers	NH-A	brain
17	chr6:75460200-75460600	Flanking Active TSS	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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