Variant report

Variant	rs10052483
Chromosome Location	chr5:43802813-43802814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10042811	1.00[AMR][1000 genomes]
rs10044494	1.00[AMR][1000 genomes]
rs10058918	1.00[AMR][1000 genomes]
rs10063670	1.00[AMR][1000 genomes]
rs10065095	0.87[YRI][hapmap]
rs10473328	1.00[AMR][1000 genomes]
rs10473336	1.00[AMR][1000 genomes]
rs13354103	1.00[AMR][1000 genomes]
rs28416791	1.00[AMR][1000 genomes]
rs4383729	1.00[AMR][1000 genomes]
rs4632802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55721836	1.00[AMR][1000 genomes]
rs58860576	1.00[AMR][1000 genomes]
rs73753637	1.00[AMR][1000 genomes]
rs73753641	1.00[AMR][1000 genomes]
rs73753643	1.00[AMR][1000 genomes]
rs73753648	1.00[AMR][1000 genomes]
rs7704177	1.00[AMR][1000 genomes]
rs7734169	1.00[AMR][1000 genomes]
rs9292892	1.00[AMR][1000 genomes]
rs9292894	1.00[AMR][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	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv964768	chr5:43798587-43818512	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43801600-43803200	Enhancers	HMEC	breast
2	chr5:43801600-43803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:43801600-43803400	Enhancers	HSMMtube	muscle
4	chr5:43801600-43803600	Enhancers	HSMM	muscle
5	chr5:43801800-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:43802000-43803000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:43802000-43803200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:43802400-43803200	Enhancers	Osteobl	bone
9	chr5:43802600-43803200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:43802600-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:43802600-43803400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:43802600-43803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:43802800-43803200	Enhancers	Fetal Lung	lung
14	chr5:43802800-43803200	Enhancers	NHEK	skin

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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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