Variant report

Variant	nsv1028280
Chromosome Location	chr6:87395532-87411106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 308 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565215306	chr6:87395553-87395554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1325183	chr6:87395567-87395568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369297115	chr6:87395655-87395656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536442703	chr6:87395657-87395658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35188762	chr6:87395674-87395675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183558988	chr6:87395716-87395717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75398918	chr6:87395747-87395748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548670802	chr6:87395796-87395797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146395757	chr6:87395798-87395799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138453350	chr6:87395821-87395822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188842228	chr6:87395884-87395885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149620147	chr6:87395931-87395932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112043259	chr6:87395932-87395933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182314962	chr6:87395950-87395951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572178226	chr6:87395974-87395975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186978675	chr6:87396041-87396042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542328536	chr6:87396051-87396052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560630563	chr6:87396054-87396055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575658319	chr6:87396079-87396080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571895069	chr6:87396090-87396091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375445335	chr6:87396091-87396092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564860170	chr6:87396092-87396093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144319356	chr6:87396095-87396096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116189203	chr6:87396229-87396230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548043598	chr6:87396280-87396281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148752873	chr6:87396294-87396295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115288879	chr6:87396384-87396385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537339983	chr6:87396392-87396393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142322109	chr6:87396432-87396433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117335515	chr6:87396436-87396437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552613057	chr6:87396445-87396446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72908540	chr6:87396448-87396449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147468089	chr6:87396449-87396450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541396169	chr6:87396452-87396453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191400525	chr6:87396455-87396456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553998723	chr6:87396462-87396463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139883221	chr6:87396476-87396477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545063261	chr6:87396518-87396519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201376857	chr6:87396519-87396520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536014797	chr6:87396527-87396528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554290101	chr6:87396586-87396587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115350427	chr6:87396591-87396592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182135069	chr6:87398613-87398614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373101257	chr6:87398621-87398622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138487076	chr6:87398623-87398624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563822437	chr6:87398676-87398677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564201939	chr6:87398708-87398709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528335102	chr6:87398756-87398757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540416669	chr6:87398757-87398758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561822829	chr6:87398761-87398762	Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87394600-87396000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:87394800-87396600	Enhancers	K562	blood
3	chr6:87396000-87396400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:87398600-87399000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:87405800-87406000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:87409600-87410600	Enhancers	K562	blood
8	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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