Variant report

Variant	rs9982228
Chromosome Location	chr21:17576018-17576019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13051257	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492952	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1492953	0.84[AMR][1000 genomes]
rs2823637	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2823639	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823641	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823643	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823646	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823652	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2823654	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823657	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823658	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs915799	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9637000	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17567600-17583600	Weak transcription	Left Ventricle	heart
2	chr21:17569800-17577400	Weak transcription	Fetal Brain Male	brain
3	chr21:17569800-17579600	Weak transcription	NHDF-Ad	bronchial
4	chr21:17569800-17583600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17569800-17583600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17569800-17583800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17570000-17576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17570000-17583400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17570000-17583600	Weak transcription	Osteobl	bone
10	chr21:17570400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:17571200-17577200	Weak transcription	Brain Hippocampus Middle	brain
12	chr21:17571200-17577800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:17571400-17583600	Weak transcription	Psoas Muscle	Psoas
14	chr21:17571400-17583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:17571600-17583800	Weak transcription	HUVEC	blood vessel
16	chr21:17573400-17583800	Weak transcription	Hela-S3	cervix
17	chr21:17573600-17582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:17574400-17582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17574600-17577800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17575800-17576400	Enhancers	Ovary	ovary
21	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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