Variant report

Variant	nsv969338
Chromosome Location	chr6:165732672-165736560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532173	chr6:165732711-165732712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74474087	chr6:165732738-165732739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372716888	chr6:165732751-165732752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531974	chr6:165732780-165732781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528319	chr6:165732793-165732794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568399274	chr6:165732796-165732797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535714583	chr6:165732806-165732807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528361	chr6:165732809-165732810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569184454	chr6:165732828-165732829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189129121	chr6:165732829-165732830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74549890	chr6:165732830-165732831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573251787	chr6:165732866-165732867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529165	chr6:165732876-165732877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555523120	chr6:165732895-165732896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574007884	chr6:165732923-165732924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149226352	chr6:165732937-165732938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180699835	chr6:165732971-165732972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143405135	chr6:165733001-165733002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs590993	chr6:165733011-165733012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528782586	chr6:165733046-165733047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564236311	chr6:165733070-165733071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528178956	chr6:165733075-165733076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565500164	chr6:165733080-165733081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540394541	chr6:165733090-165733091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373178044	chr6:165733091-165733092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377612691	chr6:165733111-165733112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185328941	chr6:165733112-165733113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79128476	chr6:165733114-165733115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148342218	chr6:165733190-165733191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9459364	chr6:165733195-165733196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114029109	chr6:165733220-165733221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141523060	chr6:165733267-165733268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533993862	chr6:165733269-165733270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190927705	chr6:165733293-165733294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567481974	chr6:165733372-165733373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7769169	chr6:165733423-165733424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556866558	chr6:165733445-165733446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75051141	chr6:165733470-165733471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs504498	chr6:165733490-165733491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181970609	chr6:165733560-165733561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186690409	chr6:165733574-165733575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540282768	chr6:165733576-165733577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561873451	chr6:165733586-165733587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569626861	chr6:165733597-165733598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529142332	chr6:165733608-165733609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1333493	chr6:165733634-165733635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373725741	chr6:165733651-165733652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576799299	chr6:165733667-165733668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562826219	chr6:165733682-165733683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375614101	chr6:165733739-165733740	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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165723200-165733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:165735600-165746200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:165736000-165738800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:165736000-165746400	Weak transcription	HSMMtube	muscle

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