Variant report

Variant	rs8057083
Chromosome Location	chr16:79791018-79791019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79785733..79789270-chr16:79790871..79794406,3	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10871378	0.84[EUR][1000 genomes]
rs11860057	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12448881	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12716880	0.84[EUR][1000 genomes]
rs13334268	0.84[ASN][1000 genomes]
rs13337701	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13337703	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13338008	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13338235	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16951260	0.84[ASN][1000 genomes]
rs16951261	0.84[ASN][1000 genomes]
rs16951264	0.82[ASN][1000 genomes]
rs16951284	0.85[ASN][1000 genomes]
rs16951299	0.85[ASN][1000 genomes]
rs16951301	0.85[ASN][1000 genomes]
rs16951302	0.85[ASN][1000 genomes]
rs16951303	0.85[ASN][1000 genomes]
rs16951310	0.85[ASN][1000 genomes]
rs16951312	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16951318	0.85[ASN][1000 genomes]
rs16951320	0.85[ASN][1000 genomes]
rs16951359	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28420623	0.85[ASN][1000 genomes]
rs28433357	0.85[ASN][1000 genomes]
rs28536718	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28691811	0.85[ASN][1000 genomes]
rs4257219	0.80[ASN][1000 genomes]
rs4296269	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4302049	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4319779	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4319782	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4322684	0.85[ASN][1000 genomes]
rs4327063	0.85[ASN][1000 genomes]
rs4372706	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4411509	0.83[ASN][1000 genomes]
rs4470160	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4528586	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4547344	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4567730	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4567731	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4603571	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4614737	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4632145	0.82[ASN][1000 genomes]
rs4632146	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4633733	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889024	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889026	0.93[EUR][1000 genomes]
rs56986701	0.82[ASN][1000 genomes]
rs59680118	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60153062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041321	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62041342	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62041343	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564696	0.83[ASN][1000 genomes]
rs6564697	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564698	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564699	0.85[ASN][1000 genomes]
rs6564700	0.85[ASN][1000 genomes]
rs6564701	0.85[ASN][1000 genomes]
rs6564702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564703	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564704	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67364537	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7187216	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190102	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190298	0.83[ASN][1000 genomes]
rs7191995	0.85[ASN][1000 genomes]
rs7199398	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7200600	0.83[ASN][1000 genomes]
rs7200937	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7205712	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810418	0.84[ASN][1000 genomes]
rs72810426	0.84[ASN][1000 genomes]
rs72810440	0.82[ASN][1000 genomes]
rs7499783	0.84[ASN][1000 genomes]
rs8045678	0.85[ASN][1000 genomes]
rs8052982	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053230	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8060038	0.85[ASN][1000 genomes]
rs8060072	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8061610	0.85[ASN][1000 genomes]
rs8062324	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8063650	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9673780	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9673947	0.83[ASN][1000 genomes]
rs9921624	0.85[ASN][1000 genomes]
rs9922033	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923844	0.85[ASN][1000 genomes]
rs9925997	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9926635	0.85[ASN][1000 genomes]
rs9927594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9927598	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9928163	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9929497	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9931431	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9936175	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9936192	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9936261	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9939090	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9939565	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8057083	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79786200-79791800	Weak transcription	Esophagus	oesophagus
2	chr16:79787000-79792200	Weak transcription	NHLF	lung
3	chr16:79787400-79792400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:79787800-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:79789000-79792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:79789000-79794000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:79789200-79791200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:79789200-79791400	Weak transcription	Fetal Intestine Small	intestine
9	chr16:79789200-79792000	Weak transcription	HMEC	breast
10	chr16:79789200-79792400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:79789200-79792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:79789200-79792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:79789200-79792600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:79789200-79792600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:79789200-79792600	Weak transcription	Fetal Lung	lung
16	chr16:79789200-79801400	Weak transcription	Fetal Muscle Leg	muscle
17	chr16:79789200-79802000	Weak transcription	Primary T cells from cord blood	blood
18	chr16:79789400-79791400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:79789400-79792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr16:79789400-79792200	Weak transcription	NHEK	skin
21	chr16:79789400-79801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:79790600-79791400	Enhancers	NHDF-Ad	bronchial
23	chr16:79790600-79792400	Weak transcription	Fetal Intestine Large	intestine
24	chr16:79790800-79791200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:79790800-79792800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:79791000-79791600	Enhancers	Fetal Thymus	thymus
27	chr16:79791000-79791600	Enhancers	K562	blood

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