Variant report

Variant	nsv1023025
Chromosome Location	chr5:45916036-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 30479 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:30479 , 50 per page) page: 1 2 3 4 5 6 7 ... 610

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557923930	chr5:45916075-45916076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368369153	chr5:45916084-45916085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141280942	chr5:45916105-45916106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543461183	chr5:45916119-45916120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs202233180	chr5:45916129-45916130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6870636	chr5:45916130-45916131	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370388923	chr5:45916138-45916139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545387005	chr5:45916154-45916155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181166181	chr5:45916162-45916163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185491691	chr5:45916172-45916173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542990263	chr5:45916173-45916174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559990988	chr5:45916181-45916182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372110386	chr5:45916188-45916189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528706674	chr5:45916201-45916202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs189562722	chr5:45916265-45916266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182180983	chr5:45916270-45916271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551543757	chr5:45916275-45916276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571430617	chr5:45916300-45916301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530867768	chr5:45916303-45916304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550571435	chr5:45916305-45916306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs6875029	chr5:45916308-45916309	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536648779	chr5:45916313-45916314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs549039210	chr5:45916381-45916382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78739521	chr5:45916392-45916393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186822631	chr5:45916443-45916444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs367583908	chr5:45916455-45916456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557953267	chr5:45916462-45916463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577814688	chr5:45916463-45916464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs575932222	chr5:45916474-45916475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542834921	chr5:45916499-45916500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561176203	chr5:45916500-45916501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557083244	chr5:45916542-45916543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78604044	chr5:45916568-45916569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75589641	chr5:45916569-45916570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs79225400	chr5:45916572-45916573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192203373	chr5:45916573-45916574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542586693	chr5:45916587-45916588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559828759	chr5:45916636-45916637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184040189	chr5:45916656-45916657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545199862	chr5:45916739-45916740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs565097120	chr5:45916745-45916746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531000531	chr5:45916746-45916747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs550710444	chr5:45916747-45916748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs28829307	chr5:45916756-45916757	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112536796	chr5:45916761-45916762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150414347	chr5:45916790-45916791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188526044	chr5:45916828-45916829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565854878	chr5:45916841-45916842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534864820	chr5:45916852-45916853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551609603	chr5:45916857-45916858	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:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45911600-45918600	ZNF genes & repeats	Liver	Liver
2	chr5:45917200-45918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr5:45918400-45920400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:45930000-45931000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:45930200-45930600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr5:45931000-45933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:45933400-45933600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:45934200-45935400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr5:45934400-45935000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:45935600-45936200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr5:45936200-45936400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:45942800-45950000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:45942800-45954200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr5:45943000-45943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr5:45946200-45953200	ZNF genes & repeats	Liver	Liver
16	chr5:45947200-45950000	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr5:45948600-45950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:45949400-45950800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr5:45950800-45951000	ZNF genes & repeats	Psoas Muscle	Psoas
20	chr5:45951600-45962200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45951800-45956800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr5:45954800-45955400	Active TSS	Right Atrium	heart
23	chr5:45955200-45955400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr5:45956200-45957800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
25	chr5:45956600-45957000	Active TSS	Fetal Heart	heart
26	chr5:45957200-45958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr5:45959600-45959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr5:45960800-45961600	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr5:45963000-45966800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr5:45963200-45968200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr5:45964600-45967800	ZNF genes & repeats	Liver	Liver
32	chr5:45964800-45968000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:45965400-45965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr5:45966400-45968000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:45966600-45968600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr5:45970000-45972600	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr5:45974600-45975200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr5:45975000-45975800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:45982800-45984800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr5:45983200-45984400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:45984200-45987000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr5:45987000-45991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:45987200-45987400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr5:45987400-45988200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr5:45988000-45988200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr5:45990400-45999400	ZNF genes & repeats	Liver	Liver
47	chr5:45993000-45998800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:45994000-45994600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:45994200-45997200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr5:45997400-45997600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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