Variant report

Variant	rs2830421
Chromosome Location	chr21:28081559-28081560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1847866	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2830398	0.81[EUR][1000 genomes]
rs2830410	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2830416	0.86[EUR][1000 genomes]
rs2830417	0.86[EUR][1000 genomes]
rs2830422	0.87[EUR][1000 genomes]
rs2830430	0.87[EUR][1000 genomes]
rs2830439	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3017521	0.86[EUR][1000 genomes]
rs73901606	0.83[AFR][1000 genomes]
rs9974534	0.83[EUR][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	nsv459223	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv587337	chr21:28070037-28092531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28078600-28081600	Enhancers	Dnd41	blood
2	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:28081200-28081600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr21:28081200-28082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:28081400-28081800	Weak transcription	Primary hematopoietic stem cells short term culture	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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