Variant report

Variant	rs7004521
Chromosome Location	chr8:52355688-52355689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10097330	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103767	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10109706	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10112486	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785187	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11985290	0.90[EUR][1000 genomes]
rs11987995	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12545563	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13279088	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1583195	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16916251	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16916264	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16916269	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16916283	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060106	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060107	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2392899	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2392900	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2893653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3891795	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4404903	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61155462	0.90[EUR][1000 genomes]
rs6989482	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6995672	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6998610	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7008890	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7015343	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7017264	0.87[EUR][1000 genomes]
rs7843405	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7846408	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	chr8:52337800-52365400	Weak transcription	Left Ventricle	heart
2	chr8:52354600-52355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:52355400-52374000	Weak transcription	Right Ventricle	heart

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