Variant report

Variant	rs8128609
Chromosome Location	chr21:28431065-28431066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57920129	1.00[AFR][1000 genomes]
rs73363590	1.00[AFR][1000 genomes]
rs73363594	1.00[AFR][1000 genomes]
rs73378387	0.83[AFR][1000 genomes]
rs73380335	1.00[AFR][1000 genomes]
rs8134175	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28420600-28431400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr21:28430000-28431200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:28430000-28431200	Enhancers	NHEK	skin
4	chr21:28430200-28431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:28430200-28433000	Enhancers	Hela-S3	cervix
6	chr21:28430800-28433200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:28430800-28433200	Enhancers	Osteobl	bone
8	chr21:28431000-28431200	Enhancers	NHDF-Ad	bronchial
9	chr21:28431000-28433200	Enhancers	Muscle Satellite Cultured Cells	--

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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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