Variant report

Variant	rs1446534
Chromosome Location	chr8:117957039-117957040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12548648	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16889293	0.85[TSI][hapmap]
rs2014515	0.89[EUR][1000 genomes]
rs4629901	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1446534	EXT1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117951000-117957600	Weak transcription	Pancreas	Pancrea
2	chr8:117951200-117962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:117953800-117958200	Weak transcription	Psoas Muscle	Psoas
4	chr8:117954200-117957400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:117954600-117957200	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:117954600-117957600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:117956000-117957200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:117956400-117958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:117956800-117957800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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