Variant report

Variant	rs8069286
Chromosome Location	chr17:16502980-16502981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1005369	0.80[ASN][1000 genomes]
rs1005370	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12051673	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12051751	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16959857	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16959869	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs16959870	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28431824	0.94[EUR][1000 genomes]
rs28458310	0.95[EUR][1000 genomes]
rs28612609	0.88[EUR][1000 genomes]
rs28626982	0.94[EUR][1000 genomes]
rs28674185	0.94[EUR][1000 genomes]
rs28751872	0.94[EUR][1000 genomes]
rs28792801	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28826699	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28865976	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28875211	0.80[ASN][1000 genomes]
rs2970059	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3813762	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs4239135	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4352086	0.95[EUR][1000 genomes]
rs4791672	1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs4791673	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4791676	0.94[EUR][1000 genomes]
rs4791678	0.94[EUR][1000 genomes]
rs4792757	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4792760	0.93[EUR][1000 genomes]
rs4792761	0.94[EUR][1000 genomes]
rs4792762	0.94[EUR][1000 genomes]
rs5000166	0.94[EUR][1000 genomes]
rs55920274	0.95[EUR][1000 genomes]
rs56303920	0.94[EUR][1000 genomes]
rs57305125	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57448521	0.97[EUR][1000 genomes]
rs57694811	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58164310	0.94[EUR][1000 genomes]
rs59594997	0.94[EUR][1000 genomes]
rs59826203	0.80[ASN][1000 genomes]
rs62072781	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62072790	0.95[EUR][1000 genomes]
rs62072792	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62072845	0.97[EUR][1000 genomes]
rs62073660	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6502514	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7208075	0.95[EUR][1000 genomes]
rs7213274	0.95[EUR][1000 genomes]
rs7217544	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7217717	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218241	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes]
rs7219632	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7221518	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs7222622	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7222875	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes]
rs7225641	0.94[EUR][1000 genomes]
rs7226328	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72637355	0.81[ASN][1000 genomes]
rs72637356	0.80[ASN][1000 genomes]
rs72637357	0.80[ASN][1000 genomes]
rs72637358	0.80[ASN][1000 genomes]
rs8065558	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs8068349	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs8074285	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8074464	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8074487	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes]
rs8075988	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8076849	0.94[EUR][1000 genomes]
rs8082323	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8082462	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8082650	0.94[EUR][1000 genomes]
rs9889227	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9890123	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9890698	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9891138	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9892170	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9894637	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9901145	0.95[EUR][1000 genomes]
rs9904901	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9906261	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs9906728	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9907785	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9908015	0.94[EUR][1000 genomes]
rs9908390	0.94[EUR][1000 genomes]
rs9909044	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9909955	0.81[ASN][1000 genomes]
rs9910087	0.86[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9910842	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes]
rs9911162	0.95[EUR][1000 genomes]
rs9911677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911820	0.94[EUR][1000 genomes]
rs9911851	0.80[ASN][1000 genomes]
rs9916819	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8069286	ZNF624	cis	cerebellum	SCAN
rs8069286	MPRIP	cis	cerebellum	SCAN
rs8069286	CENPV	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16502400-16504000	Enhancers	Fetal Intestine Small	intestine
2	chr17:16502600-16503800	Enhancers	Fetal Intestine Large	intestine
3	chr17:16502800-16503000	Enhancers	HepG2	liver
4	chr17:16502800-16503400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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