Variant report

Variant	rs28477395
Chromosome Location	chr21:17485797-17485798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10222055	0.91[AMR][1000 genomes]
rs11909150	1.00[EUR][1000 genomes]
rs11911258	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28538277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56021099	1.00[EUR][1000 genomes]
rs58713964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59051627	1.00[EUR][1000 genomes]
rs60107374	1.00[EUR][1000 genomes]
rs60601677	1.00[EUR][1000 genomes]
rs61478315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73354430	1.00[EUR][1000 genomes]
rs73354435	1.00[EUR][1000 genomes]
rs73367130	1.00[EUR][1000 genomes]
rs73894733	1.00[EUR][1000 genomes]
rs73894735	1.00[EUR][1000 genomes]
rs73894743	1.00[EUR][1000 genomes]
rs73894745	1.00[EUR][1000 genomes]
rs9979037	0.92[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17484200-17485800	Enhancers	NH-A	brain
2	chr21:17484400-17486000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:17484800-17486000	Enhancers	NHDF-Ad	bronchial
4	chr21:17484800-17486200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:17485200-17485800	Active TSS	Right Atrium	heart
6	chr21:17485200-17486000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:17485400-17485800	Enhancers	Rectal Smooth Muscle	rectum
8	chr21:17485400-17485800	Enhancers	Osteobl	bone
9	chr21:17485400-17486000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:17485400-17486000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:17485400-17486000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr21:17485400-17486000	Enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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