Variant report

Variant	rs57013064
Chromosome Location	chr16:80673920-80673921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1121651	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12448290	0.80[AMR][1000 genomes]
rs13329877	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13333767	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13333789	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13335153	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13338587	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4889183	0.84[ASN][1000 genomes]
rs58873968	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59675671	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60596417	0.82[ASN][1000 genomes]
rs66713144	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8057859	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9922043	0.82[ASN][1000 genomes]
rs9922108	0.82[AMR][1000 genomes]
rs9927571	0.81[AFR][1000 genomes]
rs9932109	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1057562	chr16:80650768-80675842	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
2	chr16:80663200-80690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:80664200-80675800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:80665400-80677200	Weak transcription	Gastric	stomach
5	chr16:80667400-80675200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:80667400-80690000	Weak transcription	Spleen	Spleen
7	chr16:80671400-80676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:80673200-80674000	Weak transcription	Hela-S3	cervix
9	chr16:80673600-80674400	Enhancers	Placenta	Placenta
10	chr16:80673800-80674200	ZNF genes & repeats	Aorta	Aorta

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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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