Variant report

Variant	rs8076078
Chromosome Location	chr17:20875237-20875238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1038107	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1038109	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1044410	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1044414	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1044420	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204324	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11204328	0.94[ASN][1000 genomes]
rs11204330	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1127815	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11650829	0.94[ASN][1000 genomes]
rs11651632	0.94[ASN][1000 genomes]
rs11654347	0.93[ASN][1000 genomes]
rs11654680	0.93[ASN][1000 genomes]
rs11655364	0.93[ASN][1000 genomes]
rs11655562	0.82[ASN][1000 genomes]
rs11658822	0.85[ASN][1000 genomes]
rs11658914	0.93[ASN][1000 genomes]
rs11659113	0.90[ASN][1000 genomes]
rs11871167	0.93[ASN][1000 genomes]
rs12103803	0.81[AMR][1000 genomes]
rs12600604	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12936249	0.93[ASN][1000 genomes]
rs1531567	0.93[ASN][1000 genomes]
rs1993901	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2009756	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2127094	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2291036	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2364327	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2364328	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2364329	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364330	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364331	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2364332	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2364333	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28419675	0.94[ASN][1000 genomes]
rs28595150	0.93[ASN][1000 genomes]
rs3612	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816664	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3943299	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4613123	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4985813	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985820	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985824	0.80[AMR][1000 genomes]
rs4985935	0.82[ASN][1000 genomes]
rs4985941	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985943	0.81[AFR][1000 genomes]
rs4985946	0.93[ASN][1000 genomes]
rs4985947	0.93[ASN][1000 genomes]
rs4985948	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985949	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985952	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985953	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985954	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985955	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985962	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985964	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5005801	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55730423	0.94[ASN][1000 genomes]
rs55749232	0.93[ASN][1000 genomes]
rs55985304	0.93[ASN][1000 genomes]
rs62056767	0.90[ASN][1000 genomes]
rs6587109	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6650606	0.94[ASN][1000 genomes]
rs6650607	0.94[ASN][1000 genomes]
rs7207724	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7207753	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7208779	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7213253	0.94[ASN][1000 genomes]
rs7213684	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7215369	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7216090	0.87[ASN][1000 genomes]
rs7216449	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7216786	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7216978	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218112	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7218443	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7219244	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7220023	0.94[ASN][1000 genomes]
rs7221483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7221757	0.82[EUR][1000 genomes]
rs7223388	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7224746	0.84[EUR][1000 genomes]
rs7226229	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8064435	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8071311	0.85[ASN][1000 genomes]
rs8075790	0.94[ASN][1000 genomes]
rs8082210	0.93[ASN][1000 genomes]
rs880652	0.94[ASN][1000 genomes]
rs880654	0.94[ASN][1000 genomes]
rs899334	0.94[ASN][1000 genomes]
rs899335	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs899336	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs899338	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs961004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9797279	0.86[ASN][1000 genomes]
rs9895047	0.84[ASN][1000 genomes]
rs9896259	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9896301	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9896416	0.94[ASN][1000 genomes]
rs9897434	0.93[ASN][1000 genomes]
rs9898265	0.82[EUR][1000 genomes]
rs9902303	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs996065	0.81[AMR][1000 genomes];0.83[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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv2006	chr17:20846763-20892730	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8076078	USP22	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20852800-20882600	Weak transcription	K562	blood
3	chr17:20859000-20881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:20862600-20890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:20866000-20886600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:20866200-20876200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:20868000-20884800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:20869600-20880400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:20870000-20883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:20870600-20880400	Weak transcription	HepG2	liver
11	chr17:20871800-20886800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:20873200-20875400	Enhancers	Primary B cells from peripheral blood	blood
13	chr17:20873200-20886400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:20873200-20890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:20874600-20878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:20874600-20896600	Weak transcription	Spleen	Spleen

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