Variant report

Variant	rs6989482
Chromosome Location	chr8:52340042-52340043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10097330	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10103767	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10109706	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10112486	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10435583	0.83[CHB][hapmap]
rs11785187	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11985290	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11987995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11990397	0.83[CHB][hapmap]
rs12545563	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13279088	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1583195	0.81[EUR][1000 genomes]
rs16916177	0.82[CHB][hapmap]
rs16916251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916269	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916283	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2060106	0.92[EUR][1000 genomes]
rs2060107	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2392899	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2392900	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2893653	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3891795	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4404903	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61155462	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995672	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6997365	0.84[CHB][hapmap]
rs6998610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004521	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010110	0.84[CHB][hapmap]
rs7012913	0.84[CHB][hapmap]
rs7015343	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7017264	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs719162	0.83[CHB][hapmap]
rs7843405	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846408	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9298446	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr8:52316800-52342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:52322200-52342800	Weak transcription	Right Ventricle	heart
3	chr8:52337800-52365400	Weak transcription	Left Ventricle	heart

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