Variant report

Variant	rs7448313
Chromosome Location	chr5:107985674-107985675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11240979	0.89[ASN][1000 genomes]
rs11240980	0.89[ASN][1000 genomes]
rs7443963	0.82[ASN][1000 genomes]
rs7444986	0.80[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1019409	chr5:107934028-107991426	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107984200-107986200	Weak transcription	Aorta	Aorta
2	chr5:107984200-107987800	Enhancers	NHDF-Ad	bronchial
3	chr5:107984400-107986000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:107984600-107986400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:107985000-107986400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:107985000-107989800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:107985200-107989400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:107985400-107990600	Enhancers	HUVEC	blood vessel
9	chr5:107985600-107989400	Weak transcription	NHLF	lung
10	chr5:107985600-107990200	Weak transcription	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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