Variant report

Variant	rs439219
Chromosome Location	chr21:17305208-17305209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16990578	0.82[AFR][1000 genomes]
rs2150376	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823501	0.90[ASN][1000 genomes]
rs2823508	0.97[ASN][1000 genomes]
rs2823512	0.95[ASN][1000 genomes]
rs2823520	0.95[ASN][1000 genomes]
rs28714100	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs434246	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459495	0.81[ASN][1000 genomes]
rs459605	0.81[ASN][1000 genomes]
rs60372381	0.97[ASN][1000 genomes]
rs764003	0.81[AFR][1000 genomes]
rs9305753	0.92[ASN][1000 genomes]
rs9653733	0.86[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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv964543	chr21:17296262-17338385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17300600-17305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:17304400-17305800	Enhancers	Fetal Kidney	kidney
3	chr21:17304600-17305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:17305000-17306000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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