Variant report

Variant	rs72790571
Chromosome Location	chr5:108374266-108374267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10043207	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10447249	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11240990	0.84[ASN][1000 genomes]
rs11948270	0.83[EUR][1000 genomes]
rs11948684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11951595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954988	0.89[AFR][1000 genomes]
rs11955924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11956572	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11956900	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11958129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11960268	0.83[EUR][1000 genomes]
rs11960336	0.83[EUR][1000 genomes]
rs11960400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12152788	0.95[ASN][1000 genomes]
rs12153527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153646	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186663	0.91[ASN][1000 genomes]
rs12188107	0.95[ASN][1000 genomes]
rs12188521	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534396	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797827	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797830	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797834	0.82[ASN][1000 genomes]
rs3797837	0.84[ASN][1000 genomes]
rs3822684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404726	0.86[EUR][1000 genomes]
rs55899933	0.88[EUR][1000 genomes]
rs56083128	1.00[ASN][1000 genomes]
rs56382548	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57221554	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57814250	0.83[EUR][1000 genomes]
rs58255942	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58499805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58729959	0.83[EUR][1000 genomes]
rs59409290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60584949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60834821	0.88[EUR][1000 genomes]
rs61304250	0.91[ASN][1000 genomes]
rs6867147	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869929	0.91[ASN][1000 genomes]
rs6882698	0.91[ASN][1000 genomes]
rs6886017	0.91[ASN][1000 genomes]
rs6889213	0.91[ASN][1000 genomes]
rs72789336	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72789338	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72789339	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72790513	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72790518	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790522	0.95[ASN][1000 genomes]
rs72790537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790569	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790570	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73778341	0.91[ASN][1000 genomes]
rs73778362	0.91[ASN][1000 genomes]
rs73778371	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73778393	0.91[ASN][1000 genomes]
rs73778394	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73779105	1.00[ASN][1000 genomes]
rs73779109	1.00[ASN][1000 genomes]
rs73779112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779120	1.00[ASN][1000 genomes]
rs73780404	0.95[ASN][1000 genomes]
rs73780405	0.95[ASN][1000 genomes]
rs73780406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73781919	1.00[ASN][1000 genomes]
rs73781924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702557	0.91[ASN][1000 genomes]
rs7719229	0.95[ASN][1000 genomes]
rs7723580	0.95[ASN][1000 genomes]
rs7725708	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7726922	0.91[EUR][1000 genomes]
rs7733971	0.85[ASN][1000 genomes]
rs7734437	0.85[ASN][1000 genomes]
rs9688204	0.95[ASN][1000 genomes]
rs9688214	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108352400-108381400	Weak transcription	Fetal Lung	lung
3	chr5:108356000-108399000	Weak transcription	HSMM	muscle
4	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:108360400-108381200	Weak transcription	Adipose Nuclei	Adipose
6	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:108360400-108400400	Weak transcription	NHEK	skin
12	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
14	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:108365600-108389400	Weak transcription	HepG2	liver
17	chr5:108366600-108387200	Weak transcription	GM12878-XiMat	blood
18	chr5:108366800-108377400	Weak transcription	Fetal Heart	heart
19	chr5:108367000-108387000	Weak transcription	Left Ventricle	heart
20	chr5:108367800-108375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:108368800-108387400	Weak transcription	Pancreas	Pancrea
22	chr5:108371200-108387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:108371600-108381000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:108371600-108387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:108372600-108389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:108372800-108385200	Weak transcription	NHDF-Ad	bronchial
27	chr5:108373000-108385000	Weak transcription	Lung	lung
28	chr5:108373600-108387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:108373800-108374800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:108374000-108374400	Flanking Active TSS	HUVEC	blood vessel
31	chr5:108374000-108374400	Enhancers	Osteobl	bone
32	chr5:108374000-108374600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:108374000-108388600	Weak transcription	Fetal Kidney	kidney
34	chr5:108374000-108388800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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