Variant report

Variant	rs4500070
Chromosome Location	chr8:52237082-52237083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10102454	0.81[EUR][1000 genomes]
rs10105228	0.82[EUR][1000 genomes]
rs10110193	0.82[EUR][1000 genomes]
rs1052704	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10958261	0.85[CEU][hapmap]
rs11991037	0.82[EUR][1000 genomes]
rs1219679	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1219680	0.83[CEU][hapmap]
rs12542121	0.81[EUR][1000 genomes]
rs12550267	0.85[CEU][hapmap]
rs1346954	0.83[CEU][hapmap]
rs1370445	0.94[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1370446	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1431619	0.83[CEU][hapmap]
rs1437593	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1560510	0.83[CEU][hapmap]
rs1816630	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1837086	0.82[EUR][1000 genomes]
rs1837087	0.82[EUR][1000 genomes]
rs2217988	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs28411163	0.88[ASN][1000 genomes]
rs28417640	0.82[EUR][1000 genomes]
rs28449829	0.82[EUR][1000 genomes]
rs28534083	0.82[EUR][1000 genomes]
rs2915465	0.83[CEU][hapmap]
rs2915475	0.83[CEU][hapmap]
rs2976984	0.83[CEU][hapmap]
rs2976989	0.83[CEU][hapmap]
rs2976994	0.83[CEU][hapmap]
rs3097707	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873189	0.94[CEU][hapmap];0.93[JPT][hapmap]
rs4873192	0.82[EUR][1000 genomes]
rs4873530	1.00[CEU][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs4873540	0.82[EUR][1000 genomes]
rs4873541	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873542	0.82[EUR][1000 genomes]
rs4873543	0.82[EUR][1000 genomes]
rs4873544	0.82[EUR][1000 genomes]
rs6473594	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6473595	0.82[EUR][1000 genomes]
rs6473596	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66555193	0.82[EUR][1000 genomes]
rs6984536	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986651	0.82[EUR][1000 genomes]
rs6987616	0.82[EUR][1000 genomes]
rs6987775	0.82[EUR][1000 genomes]
rs6992829	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6995702	0.85[EUR][1000 genomes]
rs6998723	0.81[EUR][1000 genomes]
rs6998855	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6999446	0.82[EUR][1000 genomes]
rs7004460	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7016124	0.82[EUR][1000 genomes]
rs7016775	0.85[CEU][hapmap]
rs7017403	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs7017421	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs7813377	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814566	0.82[EUR][1000 genomes]
rs7817771	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7818590	0.82[EUR][1000 genomes]
rs7818710	0.81[EUR][1000 genomes]
rs7821565	0.81[EUR][1000 genomes]
rs7827306	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7827446	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7828080	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7834299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7839630	0.82[EUR][1000 genomes]
rs7840437	0.89[CEU][hapmap]
rs7842285	0.84[EUR][1000 genomes]
rs7842457	0.82[EUR][1000 genomes]
rs7844531	0.81[EUR][1000 genomes]
rs7845311	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9298441	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9298442	0.82[EUR][1000 genomes]
rs9298443	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9298444	0.83[CEU][hapmap]
rs9657149	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs972025	0.83[CEU][hapmap]
rs972026	0.83[CEU][hapmap]

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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52221200-52238000	Weak transcription	Left Ventricle	heart
2	chr8:52236800-52240600	Weak transcription	Right Ventricle	heart

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