Variant report

Variant	rs73585649
Chromosome Location	chr8:54140713-54140714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16918832	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918875	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918900	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918955	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34418807	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537478	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57796760	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58121794	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58534275	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58861077	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521056	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60721705	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410012	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988508	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016275	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585658	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601364	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601368	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602836	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602840	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602841	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602844	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602860	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679682	1.00[EUR][1000 genomes]
rs7816233	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822011	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822111	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832039	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7839445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54132000-54141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:54132000-54149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54137000-54142000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:54137200-54140800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:54137200-54148800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:54140200-54141000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:54140600-54140800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:54140600-54140800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:54140600-54141000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:54140600-54141200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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