Variant report

Variant	nsv470834
Chromosome Location	chr6:73546750-73596605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1764 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6927484	chr6:73546750-73546751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114153502	chr6:73546801-73546802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566021761	chr6:73546807-73546808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138939646	chr6:73546827-73546828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189806392	chr6:73546878-73546879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542039354	chr6:73546885-73546886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528689541	chr6:73546899-73546900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141403493	chr6:73546969-73546970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181351296	chr6:73546997-73546998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74949479	chr6:73547001-73547002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555458515	chr6:73547019-73547020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554010133	chr6:73547032-73547033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561799862	chr6:73547045-73547046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55748940	chr6:73547055-73547056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535255266	chr6:73547132-73547133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553241565	chr6:73547141-73547142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145056572	chr6:73547159-73547160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138769545	chr6:73547171-73547172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577963935	chr6:73547181-73547182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185574867	chr6:73547198-73547199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190153426	chr6:73547257-73547258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575257790	chr6:73547403-73547404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6453608	chr6:73547428-73547429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561470209	chr6:73547473-73547474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570421364	chr6:73547483-73547484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371393776	chr6:73547484-73547485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111723277	chr6:73547485-73547486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543503369	chr6:73547491-73547492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144142650	chr6:73547498-73547499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529071580	chr6:73547505-73547506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541269092	chr6:73547524-73547525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549102150	chr6:73547538-73547539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367543448	chr6:73547572-73547573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539299144	chr6:73547587-73547588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559594362	chr6:73547608-73547609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181062325	chr6:73547641-73547642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536098486	chr6:73547671-73547672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569638845	chr6:73547707-73547708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185274431	chr6:73547710-73547711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566365745	chr6:73547723-73547724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547597017	chr6:73547790-73547791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566109405	chr6:73547819-73547820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567393527	chr6:73547831-73547832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147042042	chr6:73547877-73547878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192329793	chr6:73547959-73547960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571524226	chr6:73547984-73547985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538918781	chr6:73547995-73547996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138273516	chr6:73548064-73548065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372322435	chr6:73548134-73548135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536693393	chr6:73548186-73548187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73509200-73572200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73542400-73557200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:73545000-73550400	Weak transcription	Aorta	Aorta
4	chr6:73545800-73554000	Weak transcription	Fetal Heart	heart
5	chr6:73549600-73552200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73550400-73550600	Enhancers	Aorta	Aorta
7	chr6:73550600-73551000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:73553600-73554800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:73554000-73554800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:73554000-73554800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:73554000-73556000	Enhancers	Fetal Heart	heart
12	chr6:73554800-73555600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:73554800-73556200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:73555000-73559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:73555600-73556400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:73556000-73558800	Weak transcription	Fetal Heart	heart
17	chr6:73556200-73556400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr6:73556400-73556600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:73556400-73560200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:73557200-73561400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:73558600-73558800	Enhancers	HSMM	muscle
22	chr6:73558800-73559000	Enhancers	Fetal Heart	heart
23	chr6:73558800-73565600	Weak transcription	HSMM	muscle
24	chr6:73560200-73560400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:73561400-73563000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:73561400-73564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:73563000-73563200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:73563200-73563400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr6:73563400-73563600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:73563600-73571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:73564400-73565000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:73564400-73568000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:73565000-73565800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:73565600-73565800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:73565600-73566000	Enhancers	HSMM	muscle
36	chr6:73565800-73567200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:73566000-73569800	Weak transcription	HSMM	muscle
38	chr6:73566000-73570400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:73566400-73566800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:73566600-73566800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:73566600-73567400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:73566600-73567600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:73566600-73567800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:73566800-73571000	Weak transcription	Psoas Muscle	Psoas
45	chr6:73566800-73571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:73566800-73571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:73567200-73567600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:73567200-73567800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:73567200-73567800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:73567200-73568200	Enhancers	Muscle Satellite Cultured Cells	--

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