Variant report

Variant	esv275546
Chromosome Location	chr3:82670940-82674148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs834879	chr3:82670940-82670941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139908430	chr3:82670950-82670951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149820083	chr3:82670951-82670952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527844409	chr3:82671106-82671107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548010353	chr3:82671120-82671121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549112748	chr3:82671156-82671157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116663044	chr3:82671170-82671171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186736903	chr3:82671182-82671183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551248385	chr3:82671187-82671188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571095903	chr3:82671200-82671201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192437092	chr3:82671209-82671210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539758436	chr3:82671222-82671223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533542183	chr3:82671247-82671248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553493015	chr3:82671275-82671276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146890668	chr3:82671305-82671306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535674950	chr3:82671340-82671341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555894720	chr3:82671350-82671351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550482944	chr3:82671429-82671430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544134685	chr3:82671433-82671434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575733308	chr3:82671445-82671446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569927155	chr3:82671472-82671473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544947875	chr3:82671477-82671478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184867587	chr3:82671480-82671481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578098788	chr3:82671630-82671631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565318930	chr3:82671713-82671714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540590750	chr3:82671773-82671774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560383169	chr3:82671774-82671775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72537466	chr3:82671810-82671811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs834880	chr3:82671811-82671812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189751147	chr3:82671843-82671844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115854514	chr3:82671885-82671886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562739414	chr3:82671898-82671899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139756420	chr3:82671914-82671915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551311561	chr3:82671915-82671916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113290207	chr3:82672040-82672041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112664493	chr3:82672045-82672046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533553931	chr3:82672058-82672059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547322991	chr3:82672064-82672065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181632033	chr3:82672069-82672070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185181945	chr3:82672077-82672078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555963830	chr3:82672081-82672082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189206523	chr3:82672086-82672087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555431845	chr3:82672147-82672148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368821693	chr3:82672165-82672166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569517950	chr3:82672170-82672171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538430561	chr3:82672206-82672207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67338294	chr3:82672207-82672208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534482540	chr3:82672227-82672228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368244844	chr3:82672247-82672248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557684502	chr3:82672288-82672289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82669800-82676800	Weak transcription	Pancreas	Pancrea

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