Variant report

Variant	rs1023380
Chromosome Location	chr21:28417695-28417696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11700791	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12152098	0.86[ASN][1000 genomes]
rs13046224	0.84[EUR][1000 genomes]
rs13051311	0.86[EUR][1000 genomes]
rs1391033	0.91[ASN][1000 genomes]
rs2830654	0.87[EUR][1000 genomes]
rs2830658	0.83[EUR][1000 genomes]
rs3937914	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4817149	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs507222	0.90[ASN][1000 genomes]
rs555139	0.97[ASN][1000 genomes]
rs555173	0.97[ASN][1000 genomes]
rs57355526	0.83[EUR][1000 genomes]
rs601784	0.92[ASN][1000 genomes]
rs602794	0.97[ASN][1000 genomes]
rs633502	0.96[ASN][1000 genomes]
rs7280981	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7281182	0.86[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	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv587341	chr21:28391743-28419053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28416800-28419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:28417000-28417800	Weak transcription	Psoas Muscle	Psoas
3	chr21:28417000-28418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:28417400-28418000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28417400-28418000	Enhancers	NHDF-Ad	bronchial
6	chr21:28417400-28418200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28417400-28418200	Enhancers	Adipose Nuclei	Adipose
8	chr21:28417400-28419400	Enhancers	Hela-S3	cervix
9	chr21:28417600-28417800	Enhancers	HSMM	muscle
10	chr21:28417600-28418200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr21:28417600-28418400	Weak transcription	Ovary	ovary

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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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