Variant report

Variant	nsv1015500
Chromosome Location	chr6:145388558-145421503
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:
4	chr6:145396467..145397056-chr6:145535409..145536250,2	MCF-7	breast:

Extended variants
information (count: 912 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs673979	chr6:145388558-145388559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145672522	chr6:145388734-145388735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146192292	chr6:145388745-145388746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117389178	chr6:145388752-145388753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567175332	chr6:145388760-145388761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147978372	chr6:145388788-145388789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536148459	chr6:145388800-145388801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111343391	chr6:145388813-145388814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540294993	chr6:145388842-145388843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1933931	chr6:145388872-145388873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184316298	chr6:145388878-145388879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190824132	chr6:145388888-145388889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573555963	chr6:145388935-145388936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544238894	chr6:145388942-145388943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35636580	chr6:145388993-145388994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558437	chr6:145388997-145388998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs150536953	chr6:145389035-145389036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538706313	chr6:145389119-145389120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558403878	chr6:145389148-145389149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370703412	chr6:145389151-145389152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572591949	chr6:145389156-145389157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564307381	chr6:145389160-145389161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528672285	chr6:145389183-145389184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192449132	chr6:145389198-145389199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568586584	chr6:145389203-145389204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535471227	chr6:145389223-145389224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184665964	chr6:145389226-145389227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569147845	chr6:145389235-145389236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78154183	chr6:145389268-145389269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76741474	chr6:145389287-145389288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114237525	chr6:145389291-145389292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531003276	chr6:145389297-145389298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534041611	chr6:145389383-145389384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188932887	chr6:145389410-145389411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573717152	chr6:145389481-145389482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543843879	chr6:145389495-145389496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562116743	chr6:145389515-145389516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550809668	chr6:145389516-145389517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575147763	chr6:145389540-145389541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546049234	chr6:145389700-145389701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554797432	chr6:145389712-145389713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139494272	chr6:145389732-145389733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181345765	chr6:145389761-145389762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540861768	chr6:145389808-145389809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144008445	chr6:145389810-145389811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544147286	chr6:145389926-145389927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201926809	chr6:145389935-145389936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6913807	chr6:145389949-145389950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186301808	chr6:145389954-145389955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569238321	chr6:145389969-145389970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145385000-145388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:145386200-145391800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:145388000-145393000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:145388000-145393200	Enhancers	NHDF-Ad	bronchial
5	chr6:145388200-145389400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:145388200-145389400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:145388200-145389400	Enhancers	HMEC	breast
8	chr6:145388200-145389400	Enhancers	Osteobl	bone
9	chr6:145388200-145389600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:145388200-145393200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:145388600-145389400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:145388800-145389000	Enhancers	NHEK	skin
13	chr6:145388800-145389200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:145388800-145389400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:145388800-145389400	Enhancers	Hela-S3	cervix
16	chr6:145389000-145389400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:145389000-145389400	Enhancers	NHLF	lung
18	chr6:145389400-145390600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:145389400-145391000	Weak transcription	Osteobl	bone
20	chr6:145389400-145391200	Weak transcription	NHLF	lung
21	chr6:145389400-145391400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:145389400-145391800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:145389400-145391800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:145389400-145391800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:145389400-145391800	Weak transcription	HMEC	breast
26	chr6:145389600-145391400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:145390600-145390800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:145390600-145393000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:145390800-145391800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:145390800-145392800	Enhancers	HSMMtube	muscle
31	chr6:145391000-145393000	Enhancers	Osteobl	bone
32	chr6:145391200-145393000	Enhancers	NHLF	lung
33	chr6:145391400-145392600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:145391400-145393000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:145391600-145392000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:145391800-145392600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:145391800-145392600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:145391800-145392800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:145391800-145393000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:145391800-145393000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:145391800-145393000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:145391800-145393000	Enhancers	HSMM	muscle
43	chr6:145391800-145393000	Enhancers	NH-A	brain
44	chr6:145391800-145393000	Enhancers	NHEK	skin
45	chr6:145391800-145393200	Enhancers	HMEC	breast
46	chr6:145395000-145395200	Enhancers	Osteobl	bone
47	chr6:145396800-145397600	Enhancers	Liver	Liver
48	chr6:145397200-145398000	Enhancers	HepG2	liver
49	chr6:145397600-145398000	Flanking Active TSS	Liver	Liver
50	chr6:145398000-145399600	Enhancers	Liver	Liver

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