Variant report

Variant	rs7630080
Chromosome Location	chr3:53520140-53520141
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:7)

rs_ID	r²[population]
rs12629138	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs2884712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312480	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs312485	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4026181	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658071	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841726	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7630080	TKT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53513800-53527800	Weak transcription	Pancreas	Pancrea
2	chr3:53517400-53524200	Enhancers	Fetal Lung	lung
3	chr3:53519400-53520200	Weak transcription	A549	lung
4	chr3:53519600-53520800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:53519600-53526800	Enhancers	Fetal Intestine Large	intestine
6	chr3:53519600-53527000	Enhancers	Fetal Intestine Small	intestine
7	chr3:53519800-53520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:53519800-53520800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:53519800-53520800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:53519800-53524600	Enhancers	HepG2	liver
11	chr3:53520000-53520400	Active TSS	Fetal Brain Male	brain
12	chr3:53520000-53527000	Weak transcription	Rectal Mucosa Donor 29	rectum

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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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