Variant report

Variant	nsv969328
Chromosome Location	chr6:134100197-134102306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185748340	chr6:134100244-134100245	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377315382	chr6:134100267-134100268	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80083805	chr6:134100273-134100274	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553172068	chr6:134100307-134100308	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1336173	chr6:134100308-134100309	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545693640	chr6:134100385-134100386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558631780	chr6:134100400-134100401	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188311932	chr6:134100413-134100414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544320848	chr6:134100414-134100415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561354286	chr6:134100431-134100432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372328656	chr6:134100445-134100446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147410873	chr6:134100517-134100518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542817062	chr6:134100521-134100522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193181818	chr6:134100614-134100615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184153825	chr6:134100638-134100639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552623312	chr6:134100682-134100683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551648295	chr6:134100692-134100693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188842662	chr6:134100706-134100707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116767200	chr6:134100783-134100784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550186701	chr6:134100813-134100814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191819294	chr6:134100833-134100834	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535956644	chr6:134100834-134100835	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541740058	chr6:134100841-134100842	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546749659	chr6:134100855-134100856	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534620115	chr6:134100899-134100900	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139629235	chr6:134100900-134100901	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183614487	chr6:134100903-134100904	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1208242	chr6:134100937-134100938	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189544910	chr6:134100953-134100954	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181977119	chr6:134100954-134100955	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143732934	chr6:134101038-134101039	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537213221	chr6:134101044-134101045	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17062853	chr6:134101045-134101046	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540742747	chr6:134101079-134101080	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144140276	chr6:134101114-134101115	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187628582	chr6:134101116-134101117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565324403	chr6:134101121-134101122	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189909197	chr6:134101146-134101147	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535293564	chr6:134101150-134101151	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181714272	chr6:134101188-134101189	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530734644	chr6:134101189-134101190	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187432327	chr6:134101234-134101235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556622845	chr6:134101310-134101311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370903048	chr6:134101311-134101312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575010863	chr6:134101341-134101342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550125312	chr6:134101368-134101369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560559684	chr6:134101435-134101436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12203224	chr6:134101494-134101495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs546285984	chr6:134101531-134101532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200470353	chr6:134101569-134101570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Colorectal cancer	16272173	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
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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134086200-134112400	Weak transcription	Aorta	Aorta
2	chr6:134096000-134112400	Weak transcription	HSMM	muscle
3	chr6:134097800-134102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:134099200-134102800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:134099400-134100200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:134099400-134101000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:134099400-134101000	Weak transcription	Ovary	ovary
8	chr6:134099400-134102400	Enhancers	Osteobl	bone
9	chr6:134099800-134100400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:134099800-134101800	Enhancers	Fetal Lung	lung
11	chr6:134100000-134100200	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:134100000-134100200	Enhancers	NHDF-Ad	bronchial
13	chr6:134100000-134100200	Enhancers	NHLF	lung
14	chr6:134100000-134101600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:134100200-134100600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:134100200-134100600	Weak transcription	NHDF-Ad	bronchial
17	chr6:134100200-134101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:134100400-134100800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:134100600-134101000	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:134100600-134101600	Enhancers	NHDF-Ad	bronchial
21	chr6:134100800-134101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:134101000-134101600	Enhancers	Ovary	ovary
23	chr6:134101200-134102400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:134101200-134102600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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