Variant report

Variant	rs7283583
Chromosome Location	chr21:17541756-17541757
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:16)

rs_ID	r²[population]
rs10854413	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543773	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs171190	0.85[CEU][hapmap]
rs2187061	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs239035	0.83[ASN][1000 genomes]
rs239036	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs239037	1.00[ASN][1000 genomes]
rs239043	0.82[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs2823625	1.00[TSI][hapmap]
rs2823626	1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs2823627	0.83[ASN][1000 genomes]
rs2823628	0.85[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs6517690	0.81[EUR][1000 genomes]
rs7281143	0.80[EUR][1000 genomes]
rs7282315	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73364817	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1065028	chr21:17522588-17572535	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17527200-17553000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17540400-17543400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr21:17540600-17541800	Enhancers	Brain Substantia Nigra	brain
4	chr21:17541000-17541800	Active TSS	Brain Anterior Caudate	brain
5	chr21:17541000-17542200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:17541200-17541800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:17541200-17541800	Enhancers	A549	lung
8	chr21:17541200-17542200	Enhancers	Adipose Nuclei	Adipose
9	chr21:17541400-17541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:17541400-17541800	Enhancers	Fetal Intestine Small	intestine
11	chr21:17541400-17541800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr21:17541400-17542000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:17541400-17542000	Active TSS	Brain Angular Gyrus	brain
14	chr21:17541400-17542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:17541400-17542200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr21:17541600-17541800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr21:17541600-17541800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:17541600-17542000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:17541600-17542000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:17541600-17542000	Active TSS	Brain Cingulate Gyrus	brain
21	chr21:17541600-17542000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr21:17541600-17542000	Active TSS	Ovary	ovary
23	chr21:17541600-17542000	Enhancers	Osteobl	bone
24	chr21:17541600-17542200	Flanking Active TSS	Hela-S3	cervix
25	chr21:17541600-17542200	Enhancers	NHDF-Ad	bronchial

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