Variant report

Variant	nsv970165
Chromosome Location	chr6:132593252-132594252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132594092..132595874-chr6:132598411..132600754,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAAR8-2	chr6:132593121-132594471	NONHSAT114964

Extended variants
information (count: 49 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75887813	chr6:132593257-132593258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs541147579	chr6:132593310-132593311	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564052598	chr6:132593316-132593317	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs536740237	chr6:132593317-132593318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs574418641	chr6:132593411-132593412	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543290527	chr6:132593429-132593430	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs9493262	chr6:132593433-132593434	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529157640	chr6:132593439-132593440	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548927971	chr6:132593444-132593445	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs9493263	chr6:132593448-132593449	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145611792	chr6:132593454-132593455	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs9493264	chr6:132593480-132593481	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571684752	chr6:132593489-132593490	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537642843	chr6:132593492-132593493	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373309507	chr6:132593493-132593494	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs9493265	chr6:132593501-132593502	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182902416	chr6:132593519-132593520	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs148914714	chr6:132593530-132593531	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541718239	chr6:132593566-132593567	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs386705957	chr6:132593688-132593689	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs9493266	chr6:132593689-132593690	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77727377	chr6:132593694-132593695	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs545748679	chr6:132593704-132593705	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs563174265	chr6:132593745-132593746	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs9493267	chr6:132593752-132593753	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563349037	chr6:132593790-132593791	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs529120035	chr6:132593817-132593818	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs56384202	chr6:132593834-132593835	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559251356	chr6:132593847-132593848	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs111751069	chr6:132593860-132593861	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs551525424	chr6:132593922-132593923	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs73541998	chr6:132593965-132593966	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575134303	chr6:132594053-132594054	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs186918415	chr6:132594055-132594056	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs151238012	chr6:132594060-132594061	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs192440516	chr6:132594082-132594083	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs77167423	chr6:132594106-132594107	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs58428348	chr6:132594119-132594120	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567210382	chr6:132594128-132594129	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs577292249	chr6:132594134-132594135	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs6933036	chr6:132594152-132594153	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577629217	chr6:132594157-132594158	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528180912	chr6:132594176-132594177	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs536764805	chr6:132594178-132594179	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs117118487	chr6:132594187-132594188	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs374094789	chr6:132594188-132594189	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs376679839	chr6:132594195-132594196	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542449053	chr6:132594220-132594221	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183550805	chr6:132594242-132594243	Weak transcription	lncRNA	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
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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132589600-132595800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:132590000-132595400	Weak transcription	Aorta	Aorta
3	chr6:132592400-132596000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:132592600-132595400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:132592600-132595400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:132592600-132595600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:132592600-132595800	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:132592600-132596400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:132592800-132595400	Weak transcription	Stomach Mucosa	stomach
10	chr6:132593400-132594200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:132593800-132594000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:132594000-132595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:132594200-132599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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