Variant report

Variant	nsv518712
Chromosome Location	chr5:45912967-46048668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6513 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:6513 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7443189	chr5:45912967-45912968	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188420952	chr5:45912968-45912969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571540911	chr5:45912986-45912987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536175235	chr5:45912989-45912990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181832537	chr5:45913021-45913022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557157291	chr5:45913027-45913028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72750039	chr5:45913034-45913035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs567815581	chr5:45913037-45913038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186448065	chr5:45913042-45913043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535077861	chr5:45913072-45913073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111957402	chr5:45913075-45913076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553024574	chr5:45913082-45913083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190471475	chr5:45913130-45913131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544967294	chr5:45913137-45913138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs151183575	chr5:45913164-45913165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs77970743	chr5:45913183-45913184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368407987	chr5:45913184-45913185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11960290	chr5:45913185-45913186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561892778	chr5:45913187-45913188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561100540	chr5:45913188-45913189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73098297	chr5:45913253-45913254	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150360708	chr5:45913258-45913259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs375952255	chr5:45913263-45913264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141313914	chr5:45913272-45913273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532426544	chr5:45913285-45913286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144973610	chr5:45913303-45913304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571580426	chr5:45913319-45913320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547028093	chr5:45913354-45913355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs537313348	chr5:45913379-45913380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565625353	chr5:45913380-45913381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183619147	chr5:45913384-45913385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372665432	chr5:45913422-45913423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567509441	chr5:45913425-45913426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539378685	chr5:45913426-45913427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186957177	chr5:45913440-45913441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116291270	chr5:45913444-45913445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538274118	chr5:45913445-45913446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558105290	chr5:45913459-45913460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575537879	chr5:45913462-45913463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544465206	chr5:45913503-45913504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557838647	chr5:45913511-45913512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561235815	chr5:45913515-45913516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574735667	chr5:45913528-45913529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540796507	chr5:45913551-45913552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138822866	chr5:45913559-45913560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs142220018	chr5:45913573-45913574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552310105	chr5:45913579-45913580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562823335	chr5:45913618-45913619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531729624	chr5:45913653-45913654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550941757	chr5:45913656-45913657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Breast cancer	17133270	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
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45905400-45914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
3	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
18	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
22	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr5:45954800-45955400	Active TSS	Right Atrium	heart
25	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
28	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
34	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
49	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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