Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10110650	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918955	0.82[AMR][1000 genomes]
rs34418807	0.82[AMR][1000 genomes]
rs57118903	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57796760	0.82[AMR][1000 genomes]
rs58121794	0.82[AMR][1000 genomes]
rs58837815	0.94[AMR][1000 genomes]
rs58861077	0.82[AMR][1000 genomes]
rs60521056	0.82[AMR][1000 genomes]
rs6473814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988508	0.82[AMR][1000 genomes]
rs7000559	0.97[EUR][1000 genomes]
rs73586457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73586471	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73588573	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	0.82[AMR][1000 genomes]
rs73594471	0.94[AMR][1000 genomes]
rs73602836	0.82[AMR][1000 genomes]
rs73602840	0.82[AMR][1000 genomes]
rs73602841	0.82[AMR][1000 genomes]
rs73602844	0.82[AMR][1000 genomes]
rs73602860	0.82[AMR][1000 genomes]
rs7462780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818113	0.84[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54223000-54226400	Enhancers	Brain Germinal Matrix	brain
2	chr8:54223400-54229400	Weak transcription	HMEC	breast
3	chr8:54223600-54229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:54224200-54229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:54224200-54229200	Weak transcription	NHEK	skin
6	chr8:54224200-54229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:54225400-54226400	Enhancers	Fetal Brain Male	brain
8	chr8:54225600-54226400	Enhancers	Fetal Muscle Leg	muscle
9	chr8:54226000-54226600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:54226000-54226800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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