Variant report

Variant	rs16993394
Chromosome Location	chr21:17447680-17447681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16993384	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16993387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16993393	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16993505	1.00[AMR][1000 genomes]
rs16993558	1.00[AMR][1000 genomes]
rs57469115	1.00[AMR][1000 genomes]
rs57936518	1.00[AMR][1000 genomes]
rs58529486	1.00[AMR][1000 genomes]
rs59631437	1.00[AMR][1000 genomes]
rs60167288	1.00[AMR][1000 genomes]
rs60300181	1.00[AMR][1000 genomes]
rs881073	1.00[AMR][1000 genomes]
rs881074	1.00[AMR][1000 genomes]
rs881076	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913414	chr21:17383785-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv913415	chr21:17400916-17452276	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2830060	chr21:17400916-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv527854	chr21:17400916-17459507	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1851038	chr21:17412144-17488119	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17442000-17448000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr21:17443000-17448200	Active TSS	Brain Hippocampus Middle	brain
3	chr21:17445200-17457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:17446200-17451600	Weak transcription	Osteobl	bone
5	chr21:17446200-17451800	Weak transcription	NH-A	brain
6	chr21:17446200-17454200	Weak transcription	Brain Germinal Matrix	brain
7	chr21:17446200-17481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17446600-17447800	Weak transcription	Brain Anterior Caudate	brain
9	chr21:17446600-17451600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:17446800-17447800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:17446800-17472200	Weak transcription	Fetal Brain Female	brain
12	chr21:17447200-17448200	Weak transcription	Fetal Brain Male	brain
13	chr21:17447400-17448200	Enhancers	Brain Substantia Nigra	brain
14	chr21:17447400-17448400	Active TSS	Brain Cingulate Gyrus	brain
15	chr21:17447400-17452400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17447600-17448400	Active TSS	Brain Angular Gyrus	brain

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

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