Variant report

Variant	rs239074
Chromosome Location	chr21:17696603-17696604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs239017	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs239026	1.00[ASN][1000 genomes]
rs239068	1.00[ASN][1000 genomes]
rs239071	1.00[ASN][1000 genomes]
rs239073	1.00[ASN][1000 genomes]
rs2823750	1.00[ASN][1000 genomes]
rs2823753	1.00[ASN][1000 genomes]
rs8131732	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 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	chr21:17689400-17700800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:17691000-17701000	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17692000-17703000	Weak transcription	Ovary	ovary
4	chr21:17694400-17701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17694400-17701800	Weak transcription	Hela-S3	cervix
6	chr21:17695000-17697600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:17695600-17696800	Enhancers	Osteobl	bone
8	chr21:17695800-17697800	Enhancers	Dnd41	blood
9	chr21:17696200-17697200	Enhancers	NHDF-Ad	bronchial
10	chr21:17696600-17697400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:17696600-17697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr21:17696600-17697600	Enhancers	Brain Substantia Nigra	brain

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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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