Variant report

Variant	rs72808724
Chromosome Location	chr5:152463609-152463610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:152463300..152464864-chr5:152488382..152490078,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10515680	0.82[EUR][1000 genomes]
rs17113912	0.85[ASN][1000 genomes]
rs17491791	0.82[EUR][1000 genomes]
rs17493016	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17493121	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17493476	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17494099	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17576736	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17578068	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17578717	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34033163	0.85[ASN][1000 genomes]
rs4958603	0.81[EUR][1000 genomes]
rs4958605	0.82[EUR][1000 genomes]
rs4958608	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60221066	0.82[EUR][1000 genomes]
rs67942753	0.82[EUR][1000 genomes]
rs6886088	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6887416	0.82[EUR][1000 genomes]
rs73284261	0.82[EUR][1000 genomes]
rs73284269	0.82[EUR][1000 genomes]
rs73284276	0.82[EUR][1000 genomes]
rs73284282	0.82[EUR][1000 genomes]
rs73284294	0.82[EUR][1000 genomes]
rs73284298	0.82[EUR][1000 genomes]
rs998275	0.91[AMR][1000 genomes];0.96[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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv600089	chr5:152200109-152488891	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017812	chr5:152220845-152467431	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv537928	chr5:152220845-152467431	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv883050	chr5:152277537-152540026	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949596	chr5:152343943-152548821	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152459200-152463800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:152462200-152472200	Weak transcription	Aorta	Aorta
3	chr5:152462800-152463800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:152462800-152463800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:152462800-152465000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:152462800-152465200	Enhancers	NHEK	skin
7	chr5:152462800-152466400	Enhancers	HMEC	breast
8	chr5:152463000-152464400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:152463400-152464400	Enhancers	Cortex derived primary cultured neurospheres	brain

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