Variant report

Variant	rs2823850
Chromosome Location	chr21:17877794-17877795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12483106	1.00[ASN][1000 genomes]
rs16998685	1.00[EUR][1000 genomes]
rs16998758	1.00[EUR][1000 genomes]
rs16998890	1.00[EUR][1000 genomes]
rs2032286	1.00[EUR][1000 genomes]
rs2039242	0.92[GIH][hapmap]
rs2155622	1.00[EUR][1000 genomes]
rs2186870	1.00[EUR][1000 genomes]
rs2404135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823823	1.00[CHB][hapmap]
rs2823824	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2823832	1.00[TSI][hapmap]
rs2823833	1.00[TSI][hapmap]
rs2823840	1.00[EUR][1000 genomes]
rs2823841	1.00[EUR][1000 genomes]
rs2823848	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823851	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823857	1.00[EUR][1000 genomes]
rs2823858	1.00[EUR][1000 genomes]
rs2823859	1.00[EUR][1000 genomes]
rs2823861	1.00[EUR][1000 genomes]
rs2823863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2823867	0.85[CHB][hapmap]
rs2823871	0.85[CHB][hapmap]
rs2823875	1.00[GIH][hapmap]
rs2823876	0.85[CHB][hapmap]
rs2823877	0.88[ASW][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs2823880	0.85[CHB][hapmap]
rs2823881	0.88[ASW][hapmap]
rs2823882	0.82[MEX][hapmap]
rs28622187	1.00[EUR][1000 genomes]
rs28647658	0.95[ASN][1000 genomes]
rs57039340	1.00[EUR][1000 genomes]
rs58981188	1.00[EUR][1000 genomes]
rs59527462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279732	1.00[EUR][1000 genomes]
rs7282654	1.00[GIH][hapmap]
rs7282899	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs73367434	1.00[EUR][1000 genomes]
rs73367453	1.00[EUR][1000 genomes]
rs73367470	1.00[EUR][1000 genomes]
rs73367472	1.00[EUR][1000 genomes]
rs73367500	1.00[EUR][1000 genomes]
rs8126961	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8129300	1.00[EUR][1000 genomes]
rs8129839	1.00[EUR][1000 genomes]
rs8131578	0.85[CHB][hapmap]
rs8133048	1.00[TSI][hapmap]
rs8133774	1.00[EUR][1000 genomes]
rs8134051	1.00[TSI][hapmap]
rs8134246	0.82[CHB][hapmap]
rs8134294	1.00[EUR][1000 genomes]
rs8134648	1.00[EUR][1000 genomes]
rs9305767	1.00[TSI][hapmap]
rs9305768	1.00[TSI][hapmap]
rs9305769	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs9975284	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9975878	1.00[TSI][hapmap]
rs9976995	1.00[ASN][1000 genomes]
rs9977870	1.00[ASN][1000 genomes]
rs9979076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979111	1.00[ASN][1000 genomes]
rs9981657	1.00[TSI][hapmap]
rs9982229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9982363	1.00[TSI][hapmap]
rs9982641	0.92[GIH][hapmap]
rs9984639	1.00[TSI][hapmap]
rs9984951	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9984970	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
2	chr21:17866800-17878200	Weak transcription	Ovary	ovary
3	chr21:17873000-17883800	Weak transcription	Fetal Brain Female	brain
4	chr21:17873200-17886400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:17873200-17886400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17876000-17878000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17876600-17878000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:17877200-17879600	Enhancers	Brain Anterior Caudate	brain
9	chr21:17877400-17881600	Weak transcription	Osteobl	bone
10	chr21:17877600-17878600	Enhancers	Brain Germinal Matrix	brain
11	chr21:17877600-17879800	Enhancers	Brain Substantia Nigra	brain
12	chr21:17877600-17889600	Weak transcription	Muscle Satellite Cultured Cells	--

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