Variant report

Variant	rs239073
Chromosome Location	chr21:17695593-17695594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs239017	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs239026	1.00[ASN][1000 genomes]
rs239068	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs239069	1.00[CHB][hapmap]
rs239071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs239072	0.81[AMR][1000 genomes]
rs239074	1.00[ASN][1000 genomes]
rs2823666	1.00[CHB][hapmap]
rs2823750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823753	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8131732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17689400-17700800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:17691000-17701000	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17691800-17696600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:17692000-17703000	Weak transcription	Ovary	ovary
5	chr21:17694400-17701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:17694400-17701800	Weak transcription	Hela-S3	cervix
7	chr21:17694600-17695800	Weak transcription	Dnd41	blood
8	chr21:17694600-17696600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:17694800-17696600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:17695000-17695800	Weak transcription	Liver	Liver
11	chr21:17695000-17696200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr21:17695000-17696600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr21:17695000-17697600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:17695200-17696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:17695400-17695800	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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