Variant report

Variant	rs57936518
Chromosome Location	chr21:17490377-17490378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16993384	1.00[AMR][1000 genomes]
rs16993387	1.00[AMR][1000 genomes]
rs16993393	1.00[AMR][1000 genomes]
rs16993394	1.00[AMR][1000 genomes]
rs16993505	1.00[AMR][1000 genomes]
rs16993558	1.00[AMR][1000 genomes]
rs57469115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58529486	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59631437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60522886	0.85[AFR][1000 genomes]
rs881073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881074	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs881076	0.90[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17488800-17490600	Enhancers	Fetal Kidney	kidney
2	chr21:17489200-17490600	Enhancers	HSMM	muscle
3	chr21:17489400-17490600	Active TSS	Aorta	Aorta
4	chr21:17489400-17490600	Flanking Active TSS	HUVEC	blood vessel
5	chr21:17489400-17490800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:17489600-17490400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17489600-17490600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:17489600-17490800	Active TSS	Brain Anterior Caudate	brain
9	chr21:17489600-17490800	Enhancers	Rectal Smooth Muscle	rectum
10	chr21:17489800-17490400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:17489800-17490600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:17489800-17490600	Active TSS	Osteobl	bone
13	chr21:17490000-17490600	Active TSS	Brain Hippocampus Middle	brain
14	chr21:17490000-17490600	Active TSS	Brain Substantia Nigra	brain
15	chr21:17490000-17490800	Active TSS	Right Atrium	heart
16	chr21:17490200-17490400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:17490200-17490400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:17490200-17490400	Enhancers	NH-A	brain
19	chr21:17490200-17490600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr21:17490200-17490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr21:17490200-17490600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr21:17490200-17490600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:17490200-17490600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr21:17490200-17490800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:17490200-17490800	Active TSS	Adipose Nuclei	Adipose
26	chr21:17490200-17490800	Enhancers	Brain Germinal Matrix	brain
27	chr21:17490200-17490800	Active TSS	Ovary	ovary
28	chr21:17490200-17490800	Active TSS	A549	lung
29	chr21:17490200-17490800	Enhancers	HSMMtube	muscle
30	chr21:17490200-17492200	Enhancers	NHDF-Ad	bronchial

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