Variant report

Variant	rs72647064
Chromosome Location	chr8:57952676-57952677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:57945103..57946884-chr8:57951548..57953264,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504215	0.83[EUR][1000 genomes]
rs12678707	0.94[EUR][1000 genomes]
rs16920046	0.83[EUR][1000 genomes]
rs16921516	0.83[EUR][1000 genomes]
rs16921525	0.83[EUR][1000 genomes]
rs16921528	0.83[EUR][1000 genomes]
rs16921547	0.83[EUR][1000 genomes]
rs17189900	0.83[EUR][1000 genomes]
rs17189921	0.83[EUR][1000 genomes]
rs17793295	0.83[EUR][1000 genomes]
rs17793486	0.83[EUR][1000 genomes]
rs35075196	0.94[EUR][1000 genomes]
rs4738562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772667	0.83[EUR][1000 genomes]
rs55838642	0.94[EUR][1000 genomes]
rs56063421	0.83[EUR][1000 genomes]
rs56254508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56409416	0.83[EUR][1000 genomes]
rs60074804	0.83[EUR][1000 genomes]
rs60887934	0.83[EUR][1000 genomes]
rs72647063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647069	0.80[EUR][1000 genomes]
rs72647071	0.83[EUR][1000 genomes]
rs72647072	0.83[EUR][1000 genomes]
rs72647078	0.82[EUR][1000 genomes]
rs72647080	0.83[EUR][1000 genomes]
rs72647082	0.94[EUR][1000 genomes]
rs72647085	0.94[EUR][1000 genomes]
rs72647087	0.94[EUR][1000 genomes]
rs72647089	0.83[EUR][1000 genomes]
rs72647091	0.83[EUR][1000 genomes]
rs9643496	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57952200-57952800	Enhancers	Adipose Nuclei	Adipose
2	chr8:57952200-57952800	Enhancers	NHEK	skin
3	chr8:57952200-57953000	Enhancers	HUVEC	blood vessel
4	chr8:57952200-57955600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:57952400-57952800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:57952400-57952800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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