Variant report

Variant	nsv966687
Chromosome Location	chr6:141114750-141127713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 358 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145861150	chr6:141114751-141114752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371377908	chr6:141114790-141114791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555300298	chr6:141114793-141114794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368751561	chr6:141114894-141114895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148162001	chr6:141114902-141114903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537441019	chr6:141114936-141114937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554607492	chr6:141114947-141114948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554111953	chr6:141114948-141114949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568064716	chr6:141114962-141114963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199999843	chr6:141114990-141114991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184402787	chr6:141115013-141115014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541132152	chr6:141115034-141115035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1402509	chr6:141115064-141115065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs190672540	chr6:141115098-141115099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571906310	chr6:141115105-141115106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150708929	chr6:141115126-141115127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542452982	chr6:141115178-141115179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141114504	chr6:141115179-141115180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531536345	chr6:141115182-141115183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181925425	chr6:141115190-141115191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554907127	chr6:141115230-141115231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184666845	chr6:141115239-141115240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9484435	chr6:141115242-141115243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576950617	chr6:141115252-141115253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530309554	chr6:141115275-141115276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189128724	chr6:141115367-141115368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548837822	chr6:141115372-141115373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574913505	chr6:141115433-141115434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373507752	chr6:141115434-141115435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181301802	chr6:141115466-141115467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185370300	chr6:141115481-141115482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376864255	chr6:141115501-141115502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559219245	chr6:141115610-141115611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564020987	chr6:141115644-141115645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189985421	chr6:141115650-141115651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181581001	chr6:141115666-141115667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534701212	chr6:141115756-141115757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373147517	chr6:141115856-141115857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533095490	chr6:141115857-141115858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574625551	chr6:141115862-141115863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138748054	chr6:141115889-141115890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554439083	chr6:141115911-141115912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576198560	chr6:141115936-141115937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9484436	chr6:141115938-141115939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529350020	chr6:141115947-141115948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373546214	chr6:141115957-141115958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549226975	chr6:141115979-141115980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565186083	chr6:141115982-141115983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532006295	chr6:141115994-141115995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541069950	chr6:141115995-141115996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141089600-141121800	Weak transcription	Placenta	Placenta
2	chr6:141106400-141116000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:141121400-141121600	Active TSS	Osteobl	bone
4	chr6:141121600-141121800	Flanking Active TSS	Osteobl	bone
5	chr6:141121600-141122000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:141121800-141122000	Enhancers	Osteobl	bone
7	chr6:141124200-141125400	Enhancers	Fetal Heart	heart
8	chr6:141124200-141125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:141124400-141124600	Enhancers	Ovary	ovary
10	chr6:141124600-141125800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:141125200-141125600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:141125400-141125800	Enhancers	NHLF	lung
13	chr6:141125800-141130000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:141126400-141130000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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