Variant report

Variant	nsv525576
Chromosome Location	chr5:45996902-46348483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 21262 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:21262 , 50 per page) page: 1 2 3 4 5 6 7 ... 426

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10041094	chr5:45996902-45996903	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577354479	chr5:45996926-45996927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185156186	chr5:45996953-45996954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189010406	chr5:45996957-45996958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181690506	chr5:45996963-45996964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111728342	chr5:45996972-45996973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112753403	chr5:45997004-45997005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375494305	chr5:45997040-45997041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185695362	chr5:45997053-45997054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575208009	chr5:45997057-45997058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544178077	chr5:45997066-45997067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147543608	chr5:45997090-45997091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190412436	chr5:45997093-45997094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547248570	chr5:45997103-45997104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560646110	chr5:45997105-45997106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373124193	chr5:45997121-45997122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs180707126	chr5:45997138-45997139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376779110	chr5:45997143-45997144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370653271	chr5:45997146-45997147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552656613	chr5:45997194-45997195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62373039	chr5:45997217-45997218	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538284700	chr5:45997218-45997219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563095039	chr5:45997223-45997224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74409648	chr5:45997234-45997235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548167906	chr5:45997237-45997238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528950680	chr5:45997238-45997239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370689603	chr5:45997246-45997247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530570820	chr5:45997250-45997251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552818221	chr5:45997273-45997274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs139358290	chr5:45997290-45997291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74710442	chr5:45997293-45997294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs185964237	chr5:45997294-45997295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150046614	chr5:45997309-45997310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542751320	chr5:45997311-45997312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145492264	chr5:45997317-45997318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544268023	chr5:45997320-45997321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548828872	chr5:45997324-45997325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560854472	chr5:45997354-45997355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575240026	chr5:45997357-45997358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540951143	chr5:45997361-45997362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560590756	chr5:45997363-45997364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560928851	chr5:45997367-45997368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532750990	chr5:45997391-45997392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs552447912	chr5:45997394-45997395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs72483188	chr5:45997432-45997433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563039539	chr5:45997467-45997468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558877162	chr5:45997469-45997470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531676485	chr5:45997497-45997498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192171010	chr5:45997504-45997505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs568136373	chr5:45997505-45997506	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:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
2	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr5:45997400-45997600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:45998800-45999600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr5:46010200-46013000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr5:46010600-46014400	ZNF genes & repeats	Liver	Liver
8	chr5:46011800-46016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:46014000-46019000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr5:46016600-46020200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr5:46017400-46018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:46018000-46028600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:46018200-46021800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr5:46019000-46022600	ZNF genes & repeats	Liver	Liver
15	chr5:46021600-46022000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:46022600-46024000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr5:46027600-46028000	Active TSS	Fetal Heart	heart
18	chr5:46030000-46030600	Active TSS	Fetal Heart	heart
19	chr5:46033200-46038200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:46033800-46034600	ZNF genes & repeats	Liver	Liver
21	chr5:46035200-46036000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:46039000-46039800	ZNF genes & repeats	Liver	Liver
23	chr5:46041000-46045400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:46042000-46043400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr5:46042800-46043800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr5:46048800-46067200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:46050000-46062400	ZNF genes & repeats	Liver	Liver
28	chr5:46050800-46056000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr5:46053000-46053600	Active TSS	Right Atrium	heart
30	chr5:46058800-46064400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr5:46061200-46064200	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr5:46066200-46067200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr5:46067800-46073000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr5:46068400-46069600	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr5:46068400-46069800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr5:46071000-46082400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:46071600-46075400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr5:46073400-46075800	ZNF genes & repeats	Liver	Liver
39	chr5:46075600-46077000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:46077000-46079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr5:46081600-46082600	Active TSS	Fetal Heart	heart
42	chr5:46083400-46093800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:46083600-46093600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr5:46083800-46084600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr5:46084000-46085200	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr5:46089200-46090400	Active TSS	Aorta	Aorta
47	chr5:46090600-46093600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
48	chr5:46091200-46093400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr5:46093800-46096600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
50	chr5:46099600-46101800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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