Variant report

Variant	rs66555193
Chromosome Location	chr8:52225653-52225654
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1003095	0.81[EUR][1000 genomes]
rs10091279	0.81[EUR][1000 genomes]
rs10092020	0.81[EUR][1000 genomes]
rs10094879	0.95[EUR][1000 genomes]
rs10097749	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10101803	0.81[EUR][1000 genomes]
rs10102454	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10105228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107148	0.95[EUR][1000 genomes]
rs10110193	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113485	0.96[EUR][1000 genomes]
rs1052704	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958261	0.84[EUR][1000 genomes]
rs11989863	0.96[EUR][1000 genomes]
rs11991037	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993179	0.84[EUR][1000 genomes]
rs1219677	0.81[EUR][1000 genomes]
rs1219680	0.81[EUR][1000 genomes]
rs12542121	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12550267	0.85[EUR][1000 genomes]
rs1370446	0.99[EUR][1000 genomes]
rs16915954	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16915972	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16916011	0.81[EUR][1000 genomes]
rs1816630	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837086	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1837087	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217988	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417640	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449829	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534083	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28805429	0.83[EUR][1000 genomes]
rs4471026	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4500070	0.82[EUR][1000 genomes]
rs4873190	0.81[EUR][1000 genomes]
rs4873192	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873533	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4873534	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4873540	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4873541	0.81[EUR][1000 genomes]
rs4873542	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4873543	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873544	0.99[EUR][1000 genomes]
rs4873545	0.81[EUR][1000 genomes]
rs60579236	0.84[EUR][1000 genomes]
rs60646659	0.81[EUR][1000 genomes]
rs6473594	0.81[EUR][1000 genomes]
rs6473595	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67110071	0.84[EUR][1000 genomes]
rs67134977	0.81[EUR][1000 genomes]
rs67152383	0.84[EUR][1000 genomes]
rs6981422	0.81[EUR][1000 genomes]
rs6986651	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987616	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987775	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992933	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6996951	0.81[EUR][1000 genomes]
rs6998723	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6998855	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999446	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7000176	0.81[EUR][1000 genomes]
rs7003720	0.85[EUR][1000 genomes]
rs7004460	0.81[EUR][1000 genomes]
rs7008365	0.94[EUR][1000 genomes]
rs7016124	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016775	0.84[EUR][1000 genomes]
rs7017403	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017421	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726127	0.81[EUR][1000 genomes]
rs766788	0.81[EUR][1000 genomes]
rs766789	0.81[EUR][1000 genomes]
rs766790	0.81[EUR][1000 genomes]
rs7813377	0.81[EUR][1000 genomes]
rs7814566	0.99[EUR][1000 genomes]
rs7818411	0.84[EUR][1000 genomes]
rs7818590	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818710	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7821565	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7825017	0.94[EUR][1000 genomes]
rs7827306	0.99[EUR][1000 genomes]
rs7827446	0.99[EUR][1000 genomes]
rs7828080	0.81[EUR][1000 genomes]
rs7834299	0.81[EUR][1000 genomes]
rs7839630	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842457	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844531	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7844947	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7845311	0.82[EUR][1000 genomes]
rs7846115	0.81[EUR][1000 genomes]
rs9298442	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9298443	0.81[EUR][1000 genomes]
rs9298444	0.81[EUR][1000 genomes]
rs972026	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52221200-52238000	Weak transcription	Left Ventricle	heart
2	chr8:52225200-52225800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:52225400-52229400	Weak transcription	Fetal Brain Male	brain

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