Variant report

Variant	rs1374094
Chromosome Location	chr8:120530823-120530824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10094917	0.89[ASN][1000 genomes]
rs1348724	0.88[ASN][1000 genomes]
rs1348725	0.91[ASN][1000 genomes]
rs1838746	0.89[ASN][1000 genomes]
rs2017336	0.89[ASN][1000 genomes]
rs2875886	0.88[ASN][1000 genomes]
rs2875887	0.90[ASN][1000 genomes]
rs4549811	0.89[ASN][1000 genomes]
rs6469825	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6983616	0.84[ASN][1000 genomes]
rs7000655	0.82[JPT][hapmap]
rs7000665	0.95[JPT][hapmap]
rs7003949	0.84[ASN][1000 genomes]
rs7016637	0.89[ASN][1000 genomes]
rs72686368	0.86[ASN][1000 genomes]
rs7841822	0.94[JPT][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1374094	NOV	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120523800-120533000	Weak transcription	Aorta	Aorta
2	chr8:120526200-120533200	Enhancers	NHDF-Ad	bronchial
3	chr8:120527800-120532800	Weak transcription	Adipose Nuclei	Adipose
4	chr8:120528000-120531200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120528000-120531400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:120528200-120531400	Weak transcription	Osteobl	bone
7	chr8:120530400-120531600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:120530400-120532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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

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