Variant report

Variant	nsv511322
Chromosome Location	chr6:141045961-141058627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
2	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
3	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:

Extended variants
information (count: 408 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1521148	chr6:141045961-141045962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187866455	chr6:141046005-141046006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141162977	chr6:141046007-141046008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190026259	chr6:141046031-141046032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555644748	chr6:141046032-141046033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150736599	chr6:141046068-141046069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139540797	chr6:141046091-141046092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143551941	chr6:141046138-141046139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573264227	chr6:141046217-141046218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545161533	chr6:141046237-141046238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183008955	chr6:141046246-141046247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147508754	chr6:141046295-141046296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187339331	chr6:141046331-141046332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371661520	chr6:141046367-141046368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375356951	chr6:141046385-141046386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375900079	chr6:141046389-141046390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368444289	chr6:141046433-141046434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6908515	chr6:141046451-141046452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561788077	chr6:141046456-141046457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192693796	chr6:141046512-141046513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531108602	chr6:141046555-141046556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76562530	chr6:141046644-141046645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145408907	chr6:141046654-141046655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538743848	chr6:141046664-141046665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550995920	chr6:141046668-141046669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372417952	chr6:141046725-141046726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566508071	chr6:141046766-141046767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534008658	chr6:141046774-141046775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564660874	chr6:141046777-141046778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11966871	chr6:141046781-141046782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9484424	chr6:141046907-141046908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185389028	chr6:141046952-141046953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564958246	chr6:141046980-141046981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73567294	chr6:141047004-141047005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201322446	chr6:141047023-141047024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577756947	chr6:141047050-141047051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376002396	chr6:141047055-141047056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373001930	chr6:141047085-141047086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560200679	chr6:141047127-141047128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575198684	chr6:141047179-141047180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544184695	chr6:141047215-141047216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74583010	chr6:141047223-141047224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76561797	chr6:141047225-141047226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561349946	chr6:141047229-141047230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531868513	chr6:141047238-141047239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550107032	chr6:141047277-141047278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187915009	chr6:141047318-141047319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376300528	chr6:141047349-141047350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116782858	chr6:141047361-141047362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2506860	chr6:141047421-141047422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141042000-141050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:141046200-141049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:141047400-141047600	Enhancers	NHDF-Ad	bronchial
4	chr6:141047600-141054800	Weak transcription	NHDF-Ad	bronchial
5	chr6:141049800-141051800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:141050200-141051200	Enhancers	Primary T cells from cord blood	blood
7	chr6:141050600-141051000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:141051000-141052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:141051200-141051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:141051600-141051800	Enhancers	Psoas Muscle	Psoas
11	chr6:141051800-141053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:141052400-141053800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:141052600-141052800	Enhancers	Osteobl	bone
14	chr6:141052600-141053200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:141052600-141053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:141052800-141053200	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:141053000-141053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:141054600-141055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:141054800-141055200	Enhancers	NHDF-Ad	bronchial
23	chr6:141054800-141055200	Enhancers	Osteobl	bone
24	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:141055200-141057200	Weak transcription	Osteobl	bone
26	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial
27	chr6:141057200-141057800	Enhancers	Fetal Kidney	kidney
28	chr6:141057200-141058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:141057200-141058000	Enhancers	Osteobl	bone
30	chr6:141057200-141058200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:141057400-141057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:141057400-141058200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:141057600-141057800	Enhancers	NHDF-Ad	bronchial
34	chr6:141057800-141058000	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links