Variant report

Variant	rs2032286
Chromosome Location	chr21:17882586-17882587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs16998685	1.00[EUR][1000 genomes]
rs16998758	1.00[EUR][1000 genomes]
rs16998825	0.83[AMR][1000 genomes]
rs16998890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16999201	0.83[AMR][1000 genomes]
rs16999221	0.83[AMR][1000 genomes]
rs16999403	0.83[AMR][1000 genomes]
rs16999411	0.83[AMR][1000 genomes]
rs16999453	0.83[AMR][1000 genomes]
rs2155622	1.00[EUR][1000 genomes]
rs2186870	1.00[EUR][1000 genomes]
rs2404135	1.00[EUR][1000 genomes]
rs2823840	1.00[EUR][1000 genomes]
rs2823841	1.00[EUR][1000 genomes]
rs2823850	1.00[EUR][1000 genomes]
rs2823851	1.00[EUR][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]
rs28622187	1.00[EUR][1000 genomes]
rs57039340	1.00[EUR][1000 genomes]
rs57784792	0.83[AMR][1000 genomes]
rs58981188	1.00[EUR][1000 genomes]
rs59527462	1.00[EUR][1000 genomes]
rs6517701	0.83[AMR][1000 genomes]
rs6517702	0.83[AMR][1000 genomes]
rs7277099	0.83[AMR][1000 genomes]
rs7279732	0.83[AMR][1000 genomes];1.00[EUR][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]
rs73367494	0.83[AMR][1000 genomes]
rs73367500	1.00[EUR][1000 genomes]
rs73893739	0.83[AMR][1000 genomes]
rs8128729	0.83[AMR][1000 genomes]
rs8129300	1.00[EUR][1000 genomes]
rs8129839	1.00[EUR][1000 genomes]
rs8130130	0.83[AMR][1000 genomes]
rs8131413	0.83[AMR][1000 genomes]
rs8133774	1.00[EUR][1000 genomes]
rs8134294	1.00[EUR][1000 genomes]
rs8134648	1.00[EUR][1000 genomes]
rs9979076	1.00[EUR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17873000-17883800	Weak transcription	Fetal Brain Female	brain
2	chr21:17873200-17886400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17873200-17886400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17877600-17889600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr21:17878800-17889400	Weak transcription	Ovary	ovary
6	chr21:17879000-17891400	Weak transcription	Fetal Brain Male	brain
7	chr21:17881600-17882600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:17881600-17882800	Enhancers	NHDF-Ad	bronchial
9	chr21:17881800-17882600	Strong transcription	Hela-S3	cervix
10	chr21:17882000-17882600	Enhancers	NHLF	lung
11	chr21:17882400-17882800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:17882400-17883200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:17882400-17884800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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