Variant report

Variant	nsv528057
Chromosome Location	chr6:81187927-81191725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17810414	chr6:81187927-81187928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573188048	chr6:81187949-81187950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554810111	chr6:81187967-81187968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182743750	chr6:81188007-81188008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558723737	chr6:81188052-81188053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147939458	chr6:81188093-81188094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544389804	chr6:81188113-81188114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561397985	chr6:81188127-81188128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10455127	chr6:81188192-81188193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574590480	chr6:81188230-81188231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540610626	chr6:81188234-81188235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188861649	chr6:81188265-81188266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148975475	chr6:81188291-81188292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551646749	chr6:81188348-81188349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191062791	chr6:81188364-81188365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143831914	chr6:81188370-81188371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7765467	chr6:81188407-81188408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567334299	chr6:81188447-81188448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3011307	chr6:81188494-81188495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546180912	chr6:81188501-81188502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377356948	chr6:81188526-81188527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370369871	chr6:81188533-81188534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368744756	chr6:81188571-81188572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13437027	chr6:81188591-81188592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371019825	chr6:81188601-81188602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13437033	chr6:81188674-81188675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559165458	chr6:81188684-81188685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1698339	chr6:81188714-81188715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368844491	chr6:81188719-81188720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557238743	chr6:81188738-81188739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55889720	chr6:81188754-81188755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117965755	chr6:81188790-81188791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538405053	chr6:81188814-81188815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554792173	chr6:81188864-81188865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187587775	chr6:81188882-81188883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377503961	chr6:81188982-81188983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201576332	chr6:81188987-81188988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528352085	chr6:81189004-81189005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141845779	chr6:81189025-81189026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569453623	chr6:81189055-81189056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55919003	chr6:81189074-81189075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577261094	chr6:81189119-81189120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12055682	chr6:81189123-81189124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs192272904	chr6:81189161-81189162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144939900	chr6:81189222-81189223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184821230	chr6:81189282-81189283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9448972	chr6:81189395-81189396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560862518	chr6:81189421-81189422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138807087	chr6:81189443-81189444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142073089	chr6:81189471-81189472	Weak transcription 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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81182800-81189800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:81187000-81188000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:81187000-81188000	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:81187200-81188000	Enhancers	HSMM	muscle
5	chr6:81187200-81188200	Enhancers	HSMMtube	muscle
6	chr6:81187200-81188200	Enhancers	NHDF-Ad	bronchial
7	chr6:81187400-81188000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:81187400-81188000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:81187400-81188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:81187400-81188200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:81187400-81188400	Enhancers	Osteobl	bone
12	chr6:81187600-81188200	Enhancers	Colon Smooth Muscle	Colon
13	chr6:81187800-81188200	Enhancers	NHLF	lung
14	chr6:81188000-81189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:81188000-81189400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:81188000-81189800	Weak transcription	HSMM	muscle
17	chr6:81188000-81190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:81188200-81189800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:81188400-81190200	Weak transcription	Osteobl	bone
20	chr6:81189400-81191000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:81189400-81191200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:81189600-81190400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:81189800-81190400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:81189800-81190400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:81189800-81190400	Enhancers	HSMM	muscle
26	chr6:81189800-81191000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:81190200-81190400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:81190200-81190400	Enhancers	NHDF-Ad	bronchial
29	chr6:81190200-81190800	Enhancers	Osteobl	bone
30	chr6:81190400-81190800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:81190800-81191200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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