Variant report

Variant	rs28630666
Chromosome Location	chr8:52482825-52482826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10088914	0.81[EUR][1000 genomes]
rs10090420	0.84[EUR][1000 genomes]
rs10098196	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10102918	0.92[EUR][1000 genomes]
rs10103686	0.92[EUR][1000 genomes]
rs10105553	0.84[EUR][1000 genomes]
rs10105959	0.81[EUR][1000 genomes]
rs10107128	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112040	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10112389	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10113054	0.95[EUR][1000 genomes]
rs10504123	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12334791	0.88[EUR][1000 genomes]
rs28784007	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34537614	0.83[EUR][1000 genomes]
rs4320537	0.81[EUR][1000 genomes]
rs4364622	0.84[EUR][1000 genomes]
rs4407871	0.84[EUR][1000 genomes]
rs4427159	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4437641	0.80[EUR][1000 genomes]
rs4449779	0.84[EUR][1000 genomes]
rs4449780	0.81[EUR][1000 genomes]
rs4498529	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4509311	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4573261	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4574836	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4574837	0.94[EUR][1000 genomes]
rs4577948	0.92[EUR][1000 genomes]
rs4873561	0.84[EUR][1000 genomes]
rs4873563	0.81[EUR][1000 genomes]
rs4873564	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60495068	0.84[EUR][1000 genomes]
rs6473623	0.92[EUR][1000 genomes]
rs6984957	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6987825	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6989600	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7006276	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7007565	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9298452	0.93[EUR][1000 genomes]
rs9298453	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9298455	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9650298	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9650299	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9650300	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1026429	chr8:52464701-52496221	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52482000-52483400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:52482600-52483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:52482600-52483000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:52482600-52483000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:52482600-52483000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:52482600-52483000	Enhancers	Right Atrium	heart
7	chr8:52482800-52483000	Enhancers	Left Ventricle	heart

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