Variant report

Variant	nsv590744
Chromosome Location	chr3:80061504-80064315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28599730	chr3:80061504-80061505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80183352	chr3:80061519-80061520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565766814	chr3:80061528-80061529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561037821	chr3:80061530-80061531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529905814	chr3:80061576-80061577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374741006	chr3:80061579-80061580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368837536	chr3:80061617-80061618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555562483	chr3:80061700-80061701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575302013	chr3:80061701-80061702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377235070	chr3:80061717-80061718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72897309	chr3:80061751-80061752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190401477	chr3:80061752-80061753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376628173	chr3:80061860-80061861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376103423	chr3:80061861-80061862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367722818	chr3:80061863-80061864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371459458	chr3:80061868-80061869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374721610	chr3:80061872-80061873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13318638	chr3:80061901-80061902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59737693	chr3:80061925-80061926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200283119	chr3:80061976-80061977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540257386	chr3:80061989-80061990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7613613	chr3:80062016-80062017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113587955	chr3:80062037-80062038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529629421	chr3:80062053-80062054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113905548	chr3:80062058-80062059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558036455	chr3:80062071-80062072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186875975	chr3:80062120-80062121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567196138	chr3:80062148-80062149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368035342	chr3:80062197-80062198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369638486	chr3:80062200-80062201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192757018	chr3:80062232-80062233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182355029	chr3:80062239-80062240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13068046	chr3:80062243-80062244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534449790	chr3:80062245-80062246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189090073	chr3:80062246-80062247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374074239	chr3:80062249-80062250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371956111	chr3:80062260-80062261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377750520	chr3:80062274-80062275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574478984	chr3:80062343-80062344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111215307	chr3:80062386-80062387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13092488	chr3:80062388-80062389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371052214	chr3:80062438-80062439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62643873	chr3:80062467-80062468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62643874	chr3:80062468-80062469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62643875	chr3:80062475-80062476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62643876	chr3:80062541-80062542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62643877	chr3:80062580-80062581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557000340	chr3:80062612-80062613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184904061	chr3:80062620-80062621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374488970	chr3:80062626-80062627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80055200-80066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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