Variant report

Variant	rs11700868
Chromosome Location	chr21:37873237-37873238
allele	C/T
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:8)

rs_ID	r²[population]
rs11088351	0.84[EUR][1000 genomes]
rs11701001	0.80[EUR][1000 genomes]
rs2226830	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2835367	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2835368	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2835373	0.84[EUR][1000 genomes]
rs4817805	0.84[EUR][1000 genomes]
rs915750	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr21:37858600-37881600	Weak transcription	Right Atrium	heart
2	chr21:37860600-37882200	Weak transcription	HUVEC	blood vessel
3	chr21:37871800-37874800	Enhancers	Fetal Lung	lung
4	chr21:37872400-37881400	Weak transcription	Esophagus	oesophagus
5	chr21:37872600-37873400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:37872600-37873400	Enhancers	Osteobl	bone
7	chr21:37872600-37873600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:37872600-37874200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:37872600-37874200	Enhancers	HepG2	liver
10	chr21:37872600-37876800	Weak transcription	A549	lung
11	chr21:37872600-37880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:37872800-37874400	Flanking Active TSS	Liver	Liver

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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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