Variant report

Variant	rs9979276
Chromosome Location	chr21:17488996-17488997
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16993551	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2226728	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2823604	1.00[CEU][hapmap]
rs2823608	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[EUR][1000 genomes]
rs56348408	0.96[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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17485800-17489600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:17486000-17489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:17487600-17489400	Enhancers	NHDF-Ad	bronchial
4	chr21:17488000-17489400	Enhancers	HUVEC	blood vessel
5	chr21:17488200-17489000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr21:17488200-17489400	Enhancers	NH-A	brain
7	chr21:17488400-17489400	Enhancers	Osteobl	bone
8	chr21:17488600-17489200	Enhancers	A549	lung
9	chr21:17488600-17489600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17488600-17489800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:17488800-17489600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:17488800-17490600	Enhancers	Fetal Kidney	kidney

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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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