Variant report

Variant	rs2823604
Chromosome Location	chr21:17453457-17453458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16993551	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2226728	0.86[CEU][hapmap]
rs2823605	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823608	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9653735	0.96[EUR][1000 genomes]
rs9979276	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17445200-17457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:17446200-17454200	Weak transcription	Brain Germinal Matrix	brain
3	chr21:17446200-17481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17446800-17472200	Weak transcription	Fetal Brain Female	brain
5	chr21:17452200-17453800	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:17452200-17454400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17452400-17454800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:17452600-17454400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17452600-17455000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:17452800-17453600	Weak transcription	Brain Anterior Caudate	brain
11	chr21:17452800-17453800	Weak transcription	Brain Angular Gyrus	brain
12	chr21:17452800-17453800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17452800-17453800	Weak transcription	Brain Substantia Nigra	brain
14	chr21:17452800-17454000	Weak transcription	Osteobl	bone
15	chr21:17452800-17454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:17452800-17454400	Weak transcription	NHDF-Ad	bronchial
17	chr21:17452800-17457200	Weak transcription	NH-A	brain
18	chr21:17452800-17457400	Weak transcription	HSMMtube	muscle
19	chr21:17453000-17453800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:17453000-17454400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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