Variant report

Variant	nsv965434
Chromosome Location	chr3:83662868-83665632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35854301	chr3:83662934-83662935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1453733	chr3:83662948-83662949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548181386	chr3:83662964-83662965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184667649	chr3:83662973-83662974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530381966	chr3:83662975-83662976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116464131	chr3:83662976-83662977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570230036	chr3:83662986-83662987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538786606	chr3:83663005-83663006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189510479	chr3:83663016-83663017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368762792	chr3:83663078-83663079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7644180	chr3:83663147-83663148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550131957	chr3:83663159-83663160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377047836	chr3:83663160-83663161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554492809	chr3:83663171-83663172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574402062	chr3:83663187-83663188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537342815	chr3:83663197-83663198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140167051	chr3:83663212-83663213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1453734	chr3:83663231-83663232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545647191	chr3:83663232-83663233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191663782	chr3:83663249-83663250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184261614	chr3:83663296-83663297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541856257	chr3:83663345-83663346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571579293	chr3:83663377-83663378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561661077	chr3:83663399-83663400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530375260	chr3:83663448-83663449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550429248	chr3:83663449-83663450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563765890	chr3:83663450-83663451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543720487	chr3:83663480-83663481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563611912	chr3:83663488-83663489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532753402	chr3:83663497-83663498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528875620	chr3:83663518-83663519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565835945	chr3:83663519-83663520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9873269	chr3:83663527-83663528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548747117	chr3:83663557-83663558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150328450	chr3:83663562-83663563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568439255	chr3:83663564-83663565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72908624	chr3:83663569-83663570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77744890	chr3:83663597-83663598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77070663	chr3:83663598-83663599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557204965	chr3:83663613-83663614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112243461	chr3:83663616-83663617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539649475	chr3:83663628-83663629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368094205	chr3:83663637-83663638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs978798	chr3:83663645-83663646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs80351604	chr3:83663676-83663677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149451139	chr3:83663683-83663684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541946114	chr3:83663684-83663685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78629769	chr3:83663687-83663688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201513997	chr3:83663701-83663702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575163328	chr3:83663709-83663710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83660600-83664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:83664600-83665200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:83665200-83671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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