Variant report

Variant	nsv981083
Chromosome Location	chr6:133664882-133667356
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	chr6:133608130..133609733-chr6:133662657..133665396,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575446042	chr6:133664892-133664893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545646002	chr6:133664896-133664897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556420868	chr6:133664922-133664923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576574663	chr6:133665084-133665085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143192676	chr6:133665102-133665103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371255657	chr6:133665103-133665104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75045994	chr6:133665104-133665105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112248938	chr6:133665210-133665211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181103843	chr6:133665223-133665224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185598578	chr6:133665245-133665246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76111587	chr6:133665255-133665256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398085315	chr6:133665256-133665257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112065615	chr6:133665281-133665282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190155017	chr6:133665282-133665283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72995906	chr6:133665326-133665327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138110795	chr6:133665364-133665365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143732948	chr6:133665395-133665396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144099520	chr6:133665504-133665505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530355429	chr6:133665510-133665511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72995908	chr6:133665529-133665530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9493600	chr6:133665623-133665624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561723847	chr6:133665650-133665651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527831495	chr6:133665651-133665652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182117556	chr6:133665661-133665662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570543223	chr6:133665691-133665692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533121402	chr6:133665761-133665762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186673076	chr6:133665795-133665796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577015812	chr6:133665817-133665818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570291380	chr6:133665852-133665853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535766147	chr6:133665872-133665873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192131771	chr6:133665926-133665927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148511904	chr6:133665944-133665945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141854967	chr6:133665967-133665968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553868807	chr6:133665972-133665973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576936996	chr6:133666018-133666019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150611280	chr6:133666035-133666036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72995910	chr6:133666050-133666051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184072251	chr6:133666071-133666072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188654011	chr6:133666078-133666079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561947049	chr6:133666180-133666181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73559608	chr6:133666210-133666211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs533947178	chr6:133666224-133666225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541140596	chr6:133666273-133666274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564212730	chr6:133666290-133666291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533155576	chr6:133666322-133666323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57814773	chr6:133666352-133666353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569949380	chr6:133666396-133666397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529622539	chr6:133666433-133666434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140098673	chr6:133666437-133666438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371700827	chr6:133666472-133666473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133654600-133667800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:133662200-133679200	Weak transcription	Psoas Muscle	Psoas
3	chr6:133663200-133667400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:133663400-133666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:133664400-133665000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:133664600-133672400	Weak transcription	Hela-S3	cervix
7	chr6:133664800-133665000	Enhancers	A549	lung
8	chr6:133665000-133672600	Weak transcription	A549	lung
9	chr6:133665400-133667800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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