Variant report

Variant	nsv1028073
Chromosome Location	chr5:45906782-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
2	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
3	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
4	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:
5	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:

Extended variants
information (count: 31109 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:31109 , 50 per page) page: 1 2 3 4 5 6 7 ... 623

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189549192	chr5:45906787-45906788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556684969	chr5:45906818-45906819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547791727	chr5:45906855-45906856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566807762	chr5:45906878-45906879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538901374	chr5:45906882-45906883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558739007	chr5:45906885-45906886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28749824	chr5:45906895-45906896	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537954292	chr5:45906920-45906921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs554406299	chr5:45906922-45906923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182165043	chr5:45906923-45906924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs200446017	chr5:45906951-45906952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62371971	chr5:45906962-45906963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs13182833	chr5:45906963-45906964	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546136362	chr5:45906964-45906965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186809110	chr5:45906978-45906979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34616558	chr5:45906985-45906986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114419497	chr5:45907045-45907046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs56788284	chr5:45907064-45907065	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146598730	chr5:45907080-45907081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562070054	chr5:45907083-45907084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527771763	chr5:45907095-45907096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140131343	chr5:45907096-45907097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs60907415	chr5:45907122-45907123	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532450750	chr5:45907126-45907127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552144847	chr5:45907179-45907180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34179793	chr5:45907181-45907182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569123505	chr5:45907195-45907196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs114809987	chr5:45907214-45907215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7444228	chr5:45907227-45907228	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567846213	chr5:45907230-45907231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533606457	chr5:45907238-45907239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191881146	chr5:45907242-45907243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553358097	chr5:45907255-45907256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144020520	chr5:45907277-45907278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184195363	chr5:45907290-45907291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550406651	chr5:45907315-45907316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146452132	chr5:45907323-45907324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369312409	chr5:45907349-45907350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568660321	chr5:45907352-45907353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562230208	chr5:45907355-45907356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188249025	chr5:45907371-45907372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112843836	chr5:45907377-45907378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541490013	chr5:45907405-45907406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs72750035	chr5:45907414-45907415	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193178591	chr5:45907417-45907418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs140803070	chr5:45907418-45907419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371970696	chr5:45907453-45907454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550144033	chr5:45907471-45907472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574715690	chr5:45907486-45907487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562666672	chr5:45907513-45907514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Schizophrenia	20967226	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	chr5:45911400-45912000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr5:45911400-45912600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
5	chr5:45914200-45916000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
20	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr5:45954800-45955400	Active TSS	Right Atrium	heart
27	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
30	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
36	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver

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