Variant report

Variant	rs2830699
Chromosome Location	chr21:28482741-28482742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1041423	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1041424	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17600993	0.89[AMR][1000 genomes]
rs17659214	0.89[AMR][1000 genomes]
rs233588	0.89[AMR][1000 genomes]
rs2830664	0.89[AMR][1000 genomes]
rs2830676	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2830685	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2830690	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28463781	0.89[AMR][1000 genomes]
rs28549866	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs404112	0.89[AMR][1000 genomes]
rs7279282	0.89[AMR][1000 genomes]
rs73187879	0.89[AMR][1000 genomes]
rs73187890	0.83[AMR][1000 genomes]
rs73189810	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73189877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9284446	0.89[AMR][1000 genomes]
rs9975373	0.89[AMR][1000 genomes]
rs9976558	0.84[AMR][1000 genomes]
rs9977974	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9984557	0.89[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	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	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28478000-28483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:28478200-28483400	Weak transcription	Ovary	ovary
3	chr21:28478200-28483600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:28481200-28484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:28481200-28484000	Weak transcription	NHEK	skin
6	chr21:28481400-28483000	Weak transcription	Fetal Kidney	kidney
7	chr21:28481400-28483800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:28481400-28484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:28481400-28484200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:28481400-28484400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:28481600-28484000	Weak transcription	NHDF-Ad	bronchial
12	chr21:28482600-28484400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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