Variant report

Variant	rs73779051
Chromosome Location	chr5:108507246-108507247
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	chr5:108501705..108503584-chr5:108505891..108508544,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10040959	0.82[AFR][1000 genomes]
rs10070411	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10085093	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10477440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10477944	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10477946	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10477947	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10477948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10477949	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10477952	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17450387	0.82[AFR][1000 genomes]
rs17473391	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2195944	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2217649	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2416198	0.82[EUR][1000 genomes]
rs2416200	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28699553	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4957567	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55930293	0.83[EUR][1000 genomes]
rs55953478	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56227556	0.82[AFR][1000 genomes]
rs57196331	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59337218	0.82[EUR][1000 genomes]
rs6872780	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73779027	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73779047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73779050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73779053	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73779135	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9326759	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9326760	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9326762	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:22 , 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	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
4	chr5:108496000-108532800	Weak transcription	Ovary	ovary
5	chr5:108497600-108508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:108498800-108512600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:108499000-108513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
10	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
11	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
14	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
15	chr5:108504400-108513600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:108504800-108511200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
18	chr5:108506200-108507600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:108506600-108511600	Weak transcription	Esophagus	oesophagus
20	chr5:108506600-108511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:108507000-108510600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:108507200-108510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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