Variant report

Variant	rs2830416
Chromosome Location	chr21:28079303-28079304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2830398	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830410	0.87[EUR][1000 genomes]
rs2830417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830421	0.86[EUR][1000 genomes]
rs2830422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830430	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2830434	0.85[ASN][1000 genomes]
rs2830439	0.84[EUR][1000 genomes]
rs2952414	0.94[GIH][hapmap]
rs3017521	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3017522	0.85[ASN][1000 genomes]
rs9974534	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28078400-28079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:28078400-28081400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:28078600-28081600	Enhancers	Dnd41	blood
4	chr21:28079200-28079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

Quick Search:

Input of quick search could be:

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

what's new

Quick links