Variant report

Variant	esv3418940
Chromosome Location	chr3:85395812-85398010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187475702	chr3:85395859-85395860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533107979	chr3:85395877-85395878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142740942	chr3:85395900-85395901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529047742	chr3:85395912-85395913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9880397	chr3:85395922-85395923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565742271	chr3:85395924-85395925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7612713	chr3:85395948-85395949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527289941	chr3:85395974-85395975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557709625	chr3:85395992-85395993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569882531	chr3:85396025-85396026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34208275	chr3:85396029-85396030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537333056	chr3:85396044-85396045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62253087	chr3:85396132-85396133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546930862	chr3:85396193-85396194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34019658	chr3:85396204-85396205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35749489	chr3:85396206-85396207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371798429	chr3:85396227-85396228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555310929	chr3:85396250-85396251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113407180	chr3:85396302-85396303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534463456	chr3:85396312-85396313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553058033	chr3:85396313-85396314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560836518	chr3:85396316-85396317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141801910	chr3:85396354-85396355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7637516	chr3:85396357-85396358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7615278	chr3:85396372-85396373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11331703	chr3:85396400-85396401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199961554	chr3:85396401-85396402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375421337	chr3:85396422-85396423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184275905	chr3:85396430-85396431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537915758	chr3:85396517-85396518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545094763	chr3:85396530-85396531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563679207	chr3:85396532-85396533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575889634	chr3:85396564-85396565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199712404	chr3:85396592-85396593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146511066	chr3:85396593-85396594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78909399	chr3:85396594-85396595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200944249	chr3:85396595-85396596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543303714	chr3:85396606-85396607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187101839	chr3:85396627-85396628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200110828	chr3:85396667-85396668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528706284	chr3:85396674-85396675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547183290	chr3:85396676-85396677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559513951	chr3:85396679-85396680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201380935	chr3:85396738-85396739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67436515	chr3:85396739-85396740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386397242	chr3:85396746-85396747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71108277	chr3:85396747-85396748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192312899	chr3:85396748-85396749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185151186	chr3:85396750-85396751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200610305	chr3:85396773-85396774	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85394800-85396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85396800-85397800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:85397800-85398200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:85397800-85398400	Enhancers	Muscle Satellite Cultured Cells	--

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