Variant report

Variant	rs72790518
Chromosome Location	chr5:108334881-108334882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10043207	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10447249	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11240990	0.80[ASN][1000 genomes]
rs11948270	0.87[EUR][1000 genomes]
rs11948684	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11951285	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951595	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11955924	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956572	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11956900	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958129	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960268	0.87[EUR][1000 genomes]
rs11960336	0.87[EUR][1000 genomes]
rs11960400	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12152788	1.00[ASN][1000 genomes]
rs12153527	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12153646	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12186663	0.95[ASN][1000 genomes]
rs12188107	1.00[ASN][1000 genomes]
rs12188521	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17534347	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17534396	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797827	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797830	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797837	0.80[ASN][1000 genomes]
rs3822684	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4404726	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55899933	0.90[EUR][1000 genomes]
rs56083128	0.95[ASN][1000 genomes]
rs56382548	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57221554	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57814250	0.87[EUR][1000 genomes]
rs58255942	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58499805	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58729959	0.87[EUR][1000 genomes]
rs59409290	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60584949	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60834821	0.91[EUR][1000 genomes]
rs61304250	0.95[ASN][1000 genomes]
rs66623856	0.83[EUR][1000 genomes]
rs6867147	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6869929	0.95[ASN][1000 genomes]
rs6882698	0.95[ASN][1000 genomes]
rs6886017	0.95[ASN][1000 genomes]
rs6889213	0.95[ASN][1000 genomes]
rs72789336	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72789338	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72789339	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790513	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790522	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790537	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790543	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790544	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790554	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790558	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790564	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790569	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790570	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790571	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72790572	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72793921	0.81[EUR][1000 genomes]
rs73778341	0.95[ASN][1000 genomes]
rs73778362	0.95[ASN][1000 genomes]
rs73778371	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73778393	0.96[ASN][1000 genomes]
rs73778394	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73779105	0.95[ASN][1000 genomes]
rs73779109	0.95[ASN][1000 genomes]
rs73779112	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73779120	0.95[ASN][1000 genomes]
rs73780404	1.00[ASN][1000 genomes]
rs73780405	1.00[ASN][1000 genomes]
rs73780406	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781919	0.95[ASN][1000 genomes]
rs73781924	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7702557	0.95[ASN][1000 genomes]
rs7719229	1.00[ASN][1000 genomes]
rs7723580	1.00[ASN][1000 genomes]
rs7723942	0.82[EUR][1000 genomes]
rs7725708	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7726922	0.87[EUR][1000 genomes]
rs7732335	0.82[EUR][1000 genomes]
rs7732510	0.82[EUR][1000 genomes]
rs7733971	0.89[ASN][1000 genomes]
rs7734437	0.89[ASN][1000 genomes]
rs9688204	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9688214	1.00[ASN][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	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108301600-108361200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:108308400-108336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:108319800-108340800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:108320000-108335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:108325800-108335400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:108328800-108342000	Weak transcription	Right Atrium	heart
7	chr5:108329600-108346200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:108329600-108359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:108330200-108336000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:108330200-108336400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:108330200-108351800	Weak transcription	Fetal Lung	lung
12	chr5:108331200-108339400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:108332600-108359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:108332800-108359800	Weak transcription	Adipose Nuclei	Adipose
15	chr5:108333400-108335200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:108333400-108351600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:108334200-108335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:108334200-108336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:108334200-108341800	Weak transcription	Esophagus	oesophagus
20	chr5:108334200-108342000	Weak transcription	Pancreas	Pancrea
21	chr5:108334200-108342400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:108334200-108344200	Weak transcription	Fetal Stomach	stomach
23	chr5:108334400-108340800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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