Variant report

Variant	rs72798572
Chromosome Location	chr5:108500232-108500233
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	chr5:108495412..108498266-chr5:108499945..108501590,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57781150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57863249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6861826	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6861979	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796557	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796564	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796565	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796567	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796572	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72796573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796575	0.86[EUR][1000 genomes]
rs72796578	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72796581	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796584	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796586	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72796591	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72796600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798561	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72798564	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798569	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72798570	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72798571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701332	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7704839	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7708766	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7713591	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7736207	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108476200-108506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
5	chr5:108495200-108506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108496000-108532800	Weak transcription	Ovary	ovary
7	chr5:108496200-108501600	Weak transcription	Psoas Muscle	Psoas
8	chr5:108497600-108508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:108498800-108512600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108499000-108513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle

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