Variant report

Variant	nsv537751
Chromosome Location	chr5:45506335-45543907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:66571588..66572090-chr5:45541388..45542303,2	MCF-7	breast:
2	chr5:44952200..44952811-chr5:45521283..45521849,2	MCF-7	breast:
3	chr5:45038409..45039119-chr5:45520902..45521831,4	MCF-7	breast:

Extended variants
information (count: 900 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74537042	chr5:45506428-45506429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552222856	chr5:45506430-45506431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571134988	chr5:45506448-45506449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182894580	chr5:45506507-45506508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112868016	chr5:45506510-45506511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139301162	chr5:45506555-45506556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567548539	chr5:45506658-45506659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536110417	chr5:45506670-45506671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552942868	chr5:45506728-45506729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572716509	chr5:45506779-45506780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4532370	chr5:45506818-45506819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369430385	chr5:45506838-45506839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144118296	chr5:45506877-45506878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575945208	chr5:45506887-45506888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544811921	chr5:45506912-45506913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4288123	chr5:45506986-45506987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201439388	chr5:45507033-45507034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575084260	chr5:45507048-45507049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540533225	chr5:45507097-45507098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146572342	chr5:45507109-45507110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532349308	chr5:45507216-45507217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113038764	chr5:45507270-45507271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562631553	chr5:45507309-45507310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111675946	chr5:45507320-45507321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550753921	chr5:45507351-45507352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187964164	chr5:45507363-45507364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567308928	chr5:45507404-45507405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556887654	chr5:45507438-45507439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575258069	chr5:45507452-45507453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571960606	chr5:45507475-45507476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546550911	chr5:45507478-45507479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575820710	chr5:45507488-45507489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377451563	chr5:45507568-45507569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566504062	chr5:45507599-45507600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542387949	chr5:45507604-45507605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545426113	chr5:45507640-45507641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142257228	chr5:45507667-45507668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151251607	chr5:45507682-45507683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537896525	chr5:45507712-45507713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555158335	chr5:45507758-45507759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140580845	chr5:45507759-45507760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147115730	chr5:45507787-45507788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554152836	chr5:45507868-45507869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576865790	chr5:45507871-45507872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193048906	chr5:45507876-45507877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562495090	chr5:45507877-45507878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374740270	chr5:45507987-45507988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531700738	chr5:45508001-45508002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80156986	chr5:45508052-45508053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561160033	chr5:45508065-45508066	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
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
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45505800-45509600	Enhancers	Fetal Brain Female	brain
2	chr5:45506400-45506600	Enhancers	Fetal Brain Male	brain
3	chr5:45506600-45507600	Weak transcription	Fetal Brain Male	brain
4	chr5:45507200-45507600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:45507200-45507800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:45507200-45508400	Enhancers	Brain Germinal Matrix	brain
7	chr5:45507400-45507600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:45507400-45507600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr5:45507600-45510000	Enhancers	Fetal Brain Male	brain
10	chr5:45509600-45510800	Weak transcription	Fetal Brain Female	brain
11	chr5:45510800-45511000	Enhancers	Fetal Brain Female	brain
12	chr5:45515400-45516200	Enhancers	Fetal Heart	heart
13	chr5:45518200-45518600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:45518600-45524000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:45520800-45521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:45520800-45521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:45521000-45521400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:45521400-45521800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:45521400-45521800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:45524000-45524200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:45524200-45526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:45525800-45532800	Weak transcription	Fetal Heart	heart
23	chr5:45526400-45526800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:45526400-45526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:45529000-45529400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:45529400-45532800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:45531200-45531400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:45531400-45532600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:45532600-45533000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:45532600-45533600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:45532600-45533800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:45532600-45534800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:45532800-45533200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:45532800-45533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:45532800-45533800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:45532800-45534000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:45532800-45534000	Enhancers	Brain Germinal Matrix	brain
38	chr5:45532800-45535000	Enhancers	Fetal Heart	heart
39	chr5:45533000-45533400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr5:45533000-45533600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:45533000-45533600	Enhancers	Fetal Brain Female	brain
42	chr5:45533000-45534000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:45533000-45534000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:45533000-45534200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:45533200-45533800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:45533200-45533800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:45533400-45534200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:45533400-45534400	Enhancers	Left Ventricle	heart
49	chr5:45533400-45534800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:45533800-45534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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