Variant report

Variant	nsv981308
Chromosome Location	chr6:145406668-145420270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145405009..145407023-chr6:145407412..145410663,3	MCF-7	breast:
2	chr6:145405009..145407023-chr6:145407412..145410663,3	MCF-7	breast:
3	chr6:145416991..145417491-chr7:156776706..156777307,2	MCF-7	breast:

Extended variants
information (count: 346 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:346 , 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	rs115611751	chr6:145406688-145406689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541124789	chr6:145406689-145406690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569736472	chr6:145406765-145406766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111394559	chr6:145406780-145406781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559857903	chr6:145406782-145406783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182986546	chr6:145406805-145406806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529313504	chr6:145406819-145406820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529445944	chr6:145406822-145406823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187318077	chr6:145406856-145406857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191749184	chr6:145406875-145406876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147558745	chr6:145406916-145406917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543765948	chr6:145406927-145406928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114236501	chr6:145406930-145406931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115101101	chr6:145406941-145406942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547478692	chr6:145406953-145406954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565872956	chr6:145406979-145406980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75353274	chr6:145406997-145406998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548535127	chr6:145407018-145407019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569966000	chr6:145407200-145407201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537311654	chr6:145407209-145407210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558625698	chr6:145407227-145407228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113877942	chr6:145407373-145407374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182434834	chr6:145407398-145407399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369453470	chr6:145407404-145407405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115066802	chr6:145407487-145407488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571474368	chr6:145407496-145407497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574554639	chr6:145407521-145407522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541960276	chr6:145407530-145407531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532061745	chr6:145407554-145407555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556872898	chr6:145407588-145407589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116746305	chr6:145407605-145407606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548506157	chr6:145407606-145407607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371129677	chr6:145407672-145407673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532553070	chr6:145407692-145407693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541257358	chr6:145407708-145407709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559543590	chr6:145407711-145407712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530102419	chr6:145407802-145407803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375344212	chr6:145407812-145407813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149070682	chr6:145407822-145407823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs36039681	chr6:145407836-145407837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563653551	chr6:145407899-145407900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571632163	chr6:145407919-145407920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530850198	chr6:145407921-145407922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs666199	chr6:145407995-145407996	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs556885142	chr6:145408019-145408020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114862862	chr6:145408025-145408026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187877358	chr6:145408062-145408063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143076222	chr6:145408114-145408115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568269634	chr6:145408120-145408121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148207330	chr6:145408127-145408128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Gastric cancer	17908304	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145402200-145407000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:145402200-145407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:145402200-145407800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:145407000-145407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:145407200-145407600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:145407200-145407600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:145407200-145407600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:145407200-145407800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:145407200-145408000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:145407400-145407800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:145407400-145408600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:145407600-145408200	Enhancers	HSMMtube	muscle
13	chr6:145407800-145408000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:145407800-145408600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:145408000-145411800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:145411200-145415400	Enhancers	Liver	Liver
17	chr6:145411400-145412200	Weak transcription	Adipose Nuclei	Adipose
18	chr6:145411600-145411800	Enhancers	HepG2	liver
19	chr6:145411600-145412000	Enhancers	Fetal Intestine Large	intestine
20	chr6:145411800-145413000	Flanking Active TSS	HepG2	liver
21	chr6:145411800-145413200	Enhancers	Fetal Intestine Small	intestine
22	chr6:145411800-145413400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:145412000-145413000	Weak transcription	Fetal Intestine Large	intestine
24	chr6:145412200-145413200	Enhancers	Adipose Nuclei	Adipose
25	chr6:145413000-145413200	Enhancers	Fetal Intestine Large	intestine
26	chr6:145413000-145413400	Enhancers	HepG2	liver
27	chr6:145413800-145414400	Enhancers	HSMMtube	muscle
28	chr6:145417800-145418400	Enhancers	Hela-S3	cervix
29	chr6:145418200-145418600	Enhancers	HUVEC	blood vessel
30	chr6:145418400-145418800	Active TSS	Fetal Heart	heart

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