Variant report

Variant	rs992557
Chromosome Location	chr21:16904586-16904587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2150373	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2179030	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242838	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823328	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823330	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823343	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823345	0.89[EUR][1000 genomes]
rs2823346	0.89[EUR][1000 genomes]
rs2823349	0.89[EUR][1000 genomes]
rs4594532	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4817962	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4817964	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7279770	0.81[EUR][1000 genomes]
rs7280990	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9636943	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974396	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9974659	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9981901	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9982379	0.83[EUR][1000 genomes];0.89[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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834049	chr21:16717421-16905300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1064621	chr21:16881027-16937290	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16901200-16906200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16904200-16904800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:16904400-16906800	Enhancers	Dnd41	blood

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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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