Variant report

Variant	nsv1029364
Chromosome Location	chr6:87399544-87411106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371775682	chr6:87405805-87405806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568776161	chr6:87405813-87405814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188556585	chr6:87405821-87405822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs367750301	chr6:87405824-87405825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550222482	chr6:87405828-87405829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs115461367	chr6:87405835-87405836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372450729	chr6:87405866-87405867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs59979173	chr6:87405870-87405871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs193062109	chr6:87405878-87405879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558063896	chr6:87405926-87405927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184813116	chr6:87405927-87405928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369985924	chr6:87406051-87406052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189181241	chr6:87406058-87406059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537854361	chr6:87406060-87406061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112803465	chr6:87406073-87406074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191355279	chr6:87406098-87406099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554541692	chr6:87406121-87406122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537513011	chr6:87406129-87406130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs622958	chr6:87406145-87406146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577194041	chr6:87406228-87406229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545339117	chr6:87406298-87406299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560402243	chr6:87406299-87406300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534020410	chr6:87406300-87406301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572608015	chr6:87406308-87406309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139469213	chr6:87406311-87406312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183495493	chr6:87406379-87406380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543000926	chr6:87406400-87406401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144976324	chr6:87406420-87406421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147750312	chr6:87406434-87406435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189429268	chr6:87406439-87406440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532549641	chr6:87406447-87406448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373933444	chr6:87406448-87406449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80299512	chr6:87406471-87406472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181464874	chr6:87406487-87406488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566768186	chr6:87406508-87406509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544769314	chr6:87406530-87406531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114722117	chr6:87406536-87406537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186430366	chr6:87406540-87406541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35946727	chr6:87406548-87406549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567331818	chr6:87406568-87406569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537576154	chr6:87406584-87406585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112322107	chr6:87406585-87406586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117248992	chr6:87406596-87406597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538254944	chr6:87406643-87406644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553439268	chr6:87406653-87406654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74974846	chr6:87406668-87406669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115074040	chr6:87406670-87406671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142421112	chr6:87406706-87406707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550865790	chr6:87406724-87406725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543981626	chr6:87406737-87406738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87405800-87406000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:87409600-87410600	Enhancers	K562	blood
4	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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