Variant report

Variant	rs73586498
Chromosome Location	chr8:54231465-54231466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54230692..54232503-chr8:54232952..54235778,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10105176	1.00[EUR][1000 genomes]
rs11993413	1.00[EUR][1000 genomes]
rs28459340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28561604	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56311815	1.00[EUR][1000 genomes]
rs58688591	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59149130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59814819	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60074714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61393155	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61659045	1.00[EUR][1000 genomes]
rs7010993	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586473	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586475	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586482	0.93[AMR][1000 genomes]
rs73586483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588569	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588581	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589344	1.00[EUR][1000 genomes]
rs73596413	1.00[EUR][1000 genomes]
rs73598462	1.00[EUR][1000 genomes]
rs73598464	1.00[EUR][1000 genomes]
rs73679763	1.00[EUR][1000 genomes]
rs73679764	1.00[EUR][1000 genomes]
rs7839953	1.00[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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54230400-54232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:54230800-54231600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:54230800-54231600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:54231200-54231600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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