Variant report

Variant	nsv968824
Chromosome Location	chr5:35740416-35743870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62351947	chr5:35740434-35740435	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376311224	chr5:35740452-35740453	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555048313	chr5:35740472-35740473	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574954602	chr5:35740483-35740484	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113542093	chr5:35740530-35740531	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557105343	chr5:35740542-35740543	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577500291	chr5:35740546-35740547	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546169263	chr5:35740549-35740550	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558734750	chr5:35740591-35740592	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375756850	chr5:35740597-35740598	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77818472	chr5:35740644-35740645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78006863	chr5:35740667-35740668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78513456	chr5:35740710-35740711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148448458	chr5:35740729-35740730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550825340	chr5:35740750-35740751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564114110	chr5:35740778-35740779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544527038	chr5:35740786-35740787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533300642	chr5:35740811-35740812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576766576	chr5:35740823-35740824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546577201	chr5:35740868-35740869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186995013	chr5:35740888-35740889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114735977	chr5:35740911-35740912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564792021	chr5:35740990-35740991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151199423	chr5:35740994-35740995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547123163	chr5:35740995-35740996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79560591	chr5:35740996-35740997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568634430	chr5:35740997-35740998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537531666	chr5:35741000-35741001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557172832	chr5:35741044-35741045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188374783	chr5:35741053-35741054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75161581	chr5:35741070-35741071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372701732	chr5:35741101-35741102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578213847	chr5:35741129-35741130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573446805	chr5:35741149-35741150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542262577	chr5:35741162-35741163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62351948	chr5:35741174-35741175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575844544	chr5:35741216-35741217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75302348	chr5:35741276-35741277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564355000	chr5:35741321-35741322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180731040	chr5:35741346-35741347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185830453	chr5:35741352-35741353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149077769	chr5:35741380-35741381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10069609	chr5:35741431-35741432	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548596500	chr5:35741460-35741461	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190156113	chr5:35741507-35741508	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560496891	chr5:35741508-35741509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568504075	chr5:35741516-35741517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531350652	chr5:35741521-35741522	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551190095	chr5:35741553-35741554	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543902888	chr5:35741597-35741598	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35737000-35741200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:35737200-35740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:35737400-35743000	Weak transcription	Fetal Kidney	kidney
4	chr5:35739600-35741600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:35739800-35740600	Enhancers	HUVEC	blood vessel
6	chr5:35739800-35741400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:35739800-35742600	Weak transcription	Pancreas	Pancrea
8	chr5:35740400-35740600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr5:35740400-35742000	Enhancers	HepG2	liver
10	chr5:35740600-35741400	Weak transcription	HUVEC	blood vessel
11	chr5:35740600-35742000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:35741200-35741600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:35741200-35742000	Enhancers	Liver	Liver
14	chr5:35741200-35742000	Enhancers	Hela-S3	cervix
15	chr5:35741200-35742200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:35741200-35742800	Enhancers	NHDF-Ad	bronchial
17	chr5:35741400-35741600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:35741400-35741600	Flanking Active TSS	Osteobl	bone
19	chr5:35741400-35742000	Enhancers	HUVEC	blood vessel
20	chr5:35741600-35741800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:35741600-35742000	Enhancers	Osteobl	bone
22	chr5:35741800-35742000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:35741800-35742200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:35742000-35743000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:35742800-35744400	Weak transcription	NHDF-Ad	bronchial

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