Variant report

Variant	rs28816233
Chromosome Location	chr21:17733067-17733068
allele	G/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:12)

rs_ID	r²[population]
rs10211887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1492961	1.00[EUR][1000 genomes]
rs187018	1.00[EUR][1000 genomes]
rs239081	1.00[EUR][1000 genomes]
rs28815621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41417245	1.00[EUR][1000 genomes]
rs59959559	1.00[EUR][1000 genomes]
rs7278795	1.00[EUR][1000 genomes]
rs73890803	1.00[EUR][1000 genomes]
rs8129609	1.00[EUR][1000 genomes]
rs9974249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976640	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3390433	chr21:17731106-17733654	Weak transcription Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	esv3354706	chr21:17731181-17733629	Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17725200-17735400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr21:17730800-17733800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:17732800-17733400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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