Variant report

Variant	rs4412388
Chromosome Location	chr8:20559452-20559453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10097713	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503684	0.95[EUR][1000 genomes]
rs10503686	0.85[EUR][1000 genomes]
rs10503687	0.85[EUR][1000 genomes]
rs11997151	0.95[EUR][1000 genomes]
rs12335299	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376004	0.95[EUR][1000 genomes]
rs1376006	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1376007	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092933	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092968	0.94[AFR][1000 genomes]
rs17092972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092979	0.94[AFR][1000 genomes]
rs17092986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092995	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093077	0.83[EUR][1000 genomes]
rs17421224	0.95[EUR][1000 genomes]
rs17421273	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17493314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17493335	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17603878	0.95[EUR][1000 genomes]
rs17603885	0.95[EUR][1000 genomes]
rs17604003	0.89[EUR][1000 genomes]
rs1839454	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839455	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167173	0.95[EUR][1000 genomes]
rs4617171	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019271	1.00[JPT][hapmap]
rs55848611	0.83[EUR][1000 genomes]
rs56332110	0.83[EUR][1000 genomes]
rs57680857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57870062	0.95[EUR][1000 genomes]
rs731067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73667856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73667857	0.94[AFR][1000 genomes]
rs73667859	0.97[AFR][1000 genomes]
rs73667860	0.97[AFR][1000 genomes]
rs7813612	0.81[EUR][1000 genomes]
rs7823002	0.92[EUR][1000 genomes]
rs7845060	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1027535	chr8:20506377-20613664	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2761417	chr8:20523767-20669443	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20552200-20559800	Weak transcription	Fetal Kidney	kidney
2	chr8:20555800-20559600	Enhancers	Fetal Brain Female	brain
3	chr8:20558200-20560000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:20558400-20561600	Weak transcription	Brain Germinal Matrix	brain
5	chr8:20559200-20559600	Enhancers	Lung	lung

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