Variant report

Variant	rs73602860
Chromosome Location	chr8:54185134-54185135
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	chr8:54183317..54185825-chr8:54188088..54189770,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16918832	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918875	1.00[EUR][1000 genomes]
rs16918900	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34418807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537478	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57796760	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58121794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58534275	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58861077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60721705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410012	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473814	0.82[AMR][1000 genomes]
rs6988508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996658	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016275	1.00[EUR][1000 genomes]
rs73585649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585658	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586457	0.82[AMR][1000 genomes]
rs73586486	0.82[AMR][1000 genomes]
rs73586489	0.82[AMR][1000 genomes]
rs73588541	0.82[AMR][1000 genomes]
rs73589347	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601364	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601368	1.00[EUR][1000 genomes]
rs73602836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679682	1.00[EUR][1000 genomes]
rs7462780	0.82[AMR][1000 genomes]
rs7816233	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822011	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822111	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829470	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832039	0.93[EUR][1000 genomes]
rs7839445	0.83[AMR][1000 genomes];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	chr8:54184800-54185200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:54184800-54185400	ZNF genes & repeats	Aorta	Aorta
3	chr8:54185000-54185600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:54185000-54186000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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