Variant report

Variant	nsv965385
Chromosome Location	chr3:85317830-85326702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555712289	chr3:85319815-85319816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190109157	chr3:85319821-85319822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541737394	chr3:85319829-85319830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147041500	chr3:85319853-85319854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72919217	chr3:85319860-85319861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545589125	chr3:85319873-85319874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564040325	chr3:85319881-85319882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144141536	chr3:85319882-85319883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182212082	chr3:85319889-85319890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568042001	chr3:85319897-85319898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369209166	chr3:85319906-85319907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115145359	chr3:85319913-85319914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61290738	chr3:85319972-85319973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539265664	chr3:85320022-85320023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557920003	chr3:85320033-85320034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370462570	chr3:85320043-85320044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150666822	chr3:85320114-85320115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537549638	chr3:85320170-85320171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59333278	chr3:85320198-85320199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573988718	chr3:85320206-85320207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533300938	chr3:85320219-85320220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187588778	chr3:85320247-85320248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553723611	chr3:85320307-85320308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578241003	chr3:85320333-85320334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112140528	chr3:85320346-85320347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570266890	chr3:85320358-85320359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138830366	chr3:85320453-85320454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56730325	chr3:85320454-85320455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377755129	chr3:85320462-85320463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563881912	chr3:85320464-85320465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576100030	chr3:85320486-85320487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370912240	chr3:85320510-85320511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543491990	chr3:85320525-85320526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374153601	chr3:85320536-85320537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377500055	chr3:85320552-85320553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374206271	chr3:85320567-85320568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528882347	chr3:85320585-85320586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190322752	chr3:85320660-85320661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535558491	chr3:85320688-85320689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559259235	chr3:85320689-85320690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371007961	chr3:85320690-85320691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180999227	chr3:85320695-85320696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555853922	chr3:85320706-85320707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536806281	chr3:85320767-85320768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185063685	chr3:85320785-85320786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113644830	chr3:85320841-85320842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533402129	chr3:85320844-85320845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114617751	chr3:85320849-85320850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201627769	chr3:85320862-85320863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149406522	chr3:85320870-85320871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
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
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85319800-85320200	Enhancers	Fetal Lung	lung
2	chr3:85320200-85320600	Weak transcription	Fetal Lung	lung
3	chr3:85320600-85320800	Enhancers	Fetal Lung	lung
4	chr3:85320800-85321800	Weak transcription	Fetal Lung	lung
5	chr3:85321800-85322000	Enhancers	Fetal Lung	lung
6	chr3:85321800-85322400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr3:85322000-85322200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:85322400-85322800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:85322800-85323200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:85323000-85323200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:85323600-85324000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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