Variant report

Variant	rs73778371
Chromosome Location	chr5:108317112-108317113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10043207	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10447249	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11948270	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11948684	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11950165	0.82[EUR][1000 genomes]
rs11951285	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11951595	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11955924	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11956572	0.95[EUR][1000 genomes]
rs11956900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11958129	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11960268	0.91[EUR][1000 genomes]
rs11960336	0.91[EUR][1000 genomes]
rs11960400	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12152788	0.93[ASN][1000 genomes]
rs12153527	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12153646	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12186663	0.98[ASN][1000 genomes]
rs12188107	0.93[ASN][1000 genomes]
rs12188521	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17534347	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17534396	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3797825	0.81[EUR][1000 genomes]
rs3797827	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3797830	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3822684	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4404726	0.86[EUR][1000 genomes]
rs55899933	0.86[EUR][1000 genomes]
rs56083128	0.89[ASN][1000 genomes]
rs56382548	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57221554	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57814250	0.91[EUR][1000 genomes]
rs58255942	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58499805	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58729959	0.91[EUR][1000 genomes]
rs59409290	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60584949	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60834821	0.87[EUR][1000 genomes]
rs61304250	0.98[ASN][1000 genomes]
rs66623856	0.87[EUR][1000 genomes]
rs66851282	0.83[EUR][1000 genomes]
rs67586696	0.84[EUR][1000 genomes]
rs6867147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869929	0.98[ASN][1000 genomes]
rs6872299	0.83[EUR][1000 genomes]
rs6882698	0.98[ASN][1000 genomes]
rs6886017	0.98[ASN][1000 genomes]
rs6889213	0.98[ASN][1000 genomes]
rs6893501	0.83[EUR][1000 genomes]
rs6893984	0.81[EUR][1000 genomes]
rs72789336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72789338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72789339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72790513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72790518	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790522	0.93[ASN][1000 genomes]
rs72790537	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790543	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790544	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790554	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790558	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790564	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790569	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790570	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790571	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72790572	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72793921	0.85[EUR][1000 genomes]
rs73778341	0.98[ASN][1000 genomes]
rs73778362	0.98[ASN][1000 genomes]
rs73778393	0.89[ASN][1000 genomes]
rs73778394	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73779105	0.89[ASN][1000 genomes]
rs73779109	0.89[ASN][1000 genomes]
rs73779112	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73779120	0.89[ASN][1000 genomes]
rs73780404	0.93[ASN][1000 genomes]
rs73780405	0.93[ASN][1000 genomes]
rs73780406	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73781919	0.89[ASN][1000 genomes]
rs73781924	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7702557	0.98[ASN][1000 genomes]
rs7719229	0.93[ASN][1000 genomes]
rs7723580	0.93[ASN][1000 genomes]
rs7723942	0.86[EUR][1000 genomes]
rs7725708	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7726922	0.83[EUR][1000 genomes]
rs7731221	0.81[EUR][1000 genomes]
rs7732335	0.86[EUR][1000 genomes]
rs7732510	0.86[EUR][1000 genomes]
rs7733971	0.91[ASN][1000 genomes]
rs7734437	0.91[ASN][1000 genomes]
rs9688204	0.93[ASN][1000 genomes]
rs9688214	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:108279200-108325600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:108282200-108324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:108282400-108327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:108283400-108319000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:108289200-108318600	Weak transcription	NHDF-Ad	bronchial
9	chr5:108290000-108322000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:108290000-108328800	Weak transcription	Esophagus	oesophagus
11	chr5:108293400-108325600	Weak transcription	NHEK	skin
12	chr5:108294400-108329400	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:108295200-108319400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:108299600-108328800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:108301400-108328600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:108301600-108361200	Weak transcription	Primary T cells from cord blood	blood
17	chr5:108301800-108318600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:108302200-108330200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:108303000-108318800	Weak transcription	Brain Angular Gyrus	brain
20	chr5:108303000-108319400	Weak transcription	HSMM	muscle
21	chr5:108303000-108329000	Weak transcription	Gastric	stomach
22	chr5:108303200-108318800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:108303200-108321200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:108303200-108322200	Weak transcription	Pancreas	Pancrea
25	chr5:108303200-108322400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:108303200-108331800	Weak transcription	Ovary	ovary
27	chr5:108303800-108321000	Weak transcription	Fetal Lung	lung
28	chr5:108303800-108322000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:108303800-108322200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:108304000-108328800	Weak transcription	Fetal Intestine Small	intestine
31	chr5:108308400-108328800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:108308400-108336000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:108309800-108333600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:108310000-108323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:108310200-108322400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:108310200-108322400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:108310400-108322400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:108311600-108321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:108313200-108322400	Weak transcription	Psoas Muscle	Psoas
40	chr5:108313800-108321200	Weak transcription	Lung	lung
41	chr5:108314200-108329400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:108316000-108319200	Weak transcription	Osteobl	bone
43	chr5:108316200-108317600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:108316400-108317200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:108316600-108317600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:108316600-108317600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:108316800-108321200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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