Variant report

Variant	rs4451325
Chromosome Location	chr8:20263955-20263956
allele	G/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:26)

rs_ID	r²[population]
rs1038465	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11204111	0.81[AMR][1000 genomes]
rs12541289	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12541690	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12542760	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12544659	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12550005	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12679658	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13248317	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13276179	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13278974	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13280414	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1484800	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34324466	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35490893	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35946940	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4270981	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4921714	0.96[ASN][1000 genomes]
rs4921715	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922191	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57307831	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58488103	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs754455	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs900956	0.85[EUR][1000 genomes]
rs9325868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9650601	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1799175	chr8:20258303-20270849	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20262200-20264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:20263000-20264000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:20263800-20265400	Weak transcription	Spleen	Spleen
4	chr8:20263800-20269200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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