Variant report

Variant	rs59937974
Chromosome Location	chr21:18082631-18082632
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:20)

rs_ID	r²[population]
rs11910443	1.00[EUR][1000 genomes]
rs11910489	1.00[EUR][1000 genomes]
rs11911281	1.00[EUR][1000 genomes]
rs17000077	1.00[EUR][1000 genomes]
rs17000181	1.00[EUR][1000 genomes]
rs17000784	1.00[EUR][1000 genomes]
rs2243706	1.00[EUR][1000 genomes]
rs2823935	1.00[EUR][1000 genomes]
rs4380331	1.00[EUR][1000 genomes]
rs57186569	1.00[EUR][1000 genomes]
rs60070410	1.00[AMR][1000 genomes]
rs60827838	1.00[EUR][1000 genomes]
rs61096922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61371418	1.00[AMR][1000 genomes]
rs7275723	1.00[EUR][1000 genomes]
rs7277211	1.00[EUR][1000 genomes]
rs73369729	1.00[EUR][1000 genomes]
rs73891838	1.00[EUR][1000 genomes]
rs8129493	1.00[EUR][1000 genomes]
rs8129644	1.00[EUR][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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv915742	chr21:18022813-18339999	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv3464	chr21:18078258-18123089	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18079600-18082800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:18081600-18082800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:18082000-18082800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:18082000-18082800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:18082200-18082800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:18082200-18083000	Weak transcription	NHDF-Ad	bronchial
7	chr21:18082200-18083000	Enhancers	Osteobl	bone
8	chr21:18082200-18083200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:18082400-18082800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr21:18082400-18082800	Enhancers	Ovary	ovary
11	chr21:18082400-18082800	Enhancers	HSMM	muscle
12	chr21:18082600-18083000	Enhancers	Fetal Lung	lung

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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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