Variant report

Variant	nsv1032521
Chromosome Location	chr5:46224012-46313629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5498 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:5498 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186647046	chr5:46224048-46224049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562965415	chr5:46224066-46224067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs147891870	chr5:46224076-46224077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs552611567	chr5:46224079-46224080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141658600	chr5:46224107-46224108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs62370827	chr5:46224111-46224112	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs80191313	chr5:46224115-46224116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534409520	chr5:46224125-46224126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62370828	chr5:46224132-46224133	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs77867462	chr5:46224135-46224136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs77322762	chr5:46224136-46224137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs80038840	chr5:46224152-46224153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539044064	chr5:46224157-46224158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550375013	chr5:46224192-46224193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372726368	chr5:46224203-46224204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115286058	chr5:46224213-46224214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190163503	chr5:46224244-46224245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs554322510	chr5:46224278-46224279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370654114	chr5:46224292-46224293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566572236	chr5:46224339-46224340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34321815	chr5:46224343-46224344	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138271510	chr5:46224344-46224345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576707786	chr5:46224380-46224381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181872725	chr5:46224424-46224425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs371695234	chr5:46224426-46224427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs13157222	chr5:46224433-46224434	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548658553	chr5:46224434-46224435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562223140	chr5:46224439-46224440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs527872443	chr5:46224449-46224450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs13174954	chr5:46224464-46224465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555932280	chr5:46224472-46224473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571035989	chr5:46224474-46224475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535441945	chr5:46224479-46224480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550076208	chr5:46224483-46224484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569280949	chr5:46224484-46224485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535084836	chr5:46224485-46224486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186522434	chr5:46224536-46224537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565804927	chr5:46224570-46224571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534513052	chr5:46224580-46224581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8185049	chr5:46224582-46224583	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577931029	chr5:46224597-46224598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs8185051	chr5:46224602-46224603	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182113556	chr5:46224639-46224640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185373578	chr5:46224655-46224656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79797523	chr5:46224690-46224691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542284961	chr5:46224700-46224701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs150267910	chr5:46224729-46224730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527815056	chr5:46224748-46224749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73103595	chr5:46224767-46224768	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190920548	chr5:46224788-46224789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46228600-46233000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:46228800-46233200	ZNF genes & repeats	Liver	Liver
4	chr5:46229000-46233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:46229200-46232000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr5:46229600-46232400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:46232800-46233600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:46233800-46238400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr5:46235400-46238000	ZNF genes & repeats	Liver	Liver
10	chr5:46235400-46245400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:46235800-46243600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr5:46238600-46239200	Active TSS	Aorta	Aorta
13	chr5:46240000-46240400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr5:46241200-46246000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:46241800-46246600	ZNF genes & repeats	Liver	Liver
16	chr5:46243000-46244200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr5:46245400-46246000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr5:46245800-46246600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr5:46246000-46247000	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr5:46246400-46246800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr5:46248800-46249000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr5:46248800-46249200	Active TSS	Right Atrium	heart
23	chr5:46248800-46259400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:46253800-46261000	ZNF genes & repeats	Liver	Liver
25	chr5:46259600-46260800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr5:46263200-46264800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr5:46266000-46268200	ZNF genes & repeats	Liver	Liver
28	chr5:46266200-46266600	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr5:46266200-46269400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr5:46266200-46270400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:46268400-46269200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:46269600-46270200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr5:46276600-46282600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr5:46278600-46281200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr5:46279400-46283000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:46279600-46285000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:46280000-46280800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:46280200-46280600	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr5:46281400-46284600	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr5:46283200-46285000	ZNF genes & repeats	Liver	Liver
41	chr5:46288000-46291400	ZNF genes & repeats	Liver	Liver
42	chr5:46289400-46304600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:46290200-46290600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr5:46292200-46293200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr5:46294200-46300400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr5:46295000-46302000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:46295200-46300200	ZNF genes & repeats	Liver	Liver
48	chr5:46299000-46299800	ZNF genes & repeats	Psoas Muscle	Psoas
49	chr5:46299400-46299600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr5:46305400-46307000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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