Variant report

Variant	esv3434232
Chromosome Location	chr3:80663112-80665160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531494604	chr3:80663113-80663114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142391396	chr3:80663120-80663121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551642950	chr3:80663121-80663122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145543832	chr3:80663142-80663143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533873479	chr3:80663210-80663211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546959175	chr3:80663211-80663212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566720532	chr3:80663250-80663251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74584632	chr3:80663261-80663262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138823037	chr3:80663336-80663337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79962561	chr3:80663387-80663388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9870598	chr3:80663450-80663451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575342333	chr3:80663453-80663454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13325315	chr3:80663459-80663460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538037412	chr3:80663470-80663471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188743332	chr3:80663476-80663477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577894194	chr3:80663483-80663484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181342256	chr3:80663539-80663540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554462562	chr3:80663574-80663575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141930187	chr3:80663602-80663603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542138612	chr3:80663653-80663654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562372644	chr3:80663655-80663656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542619392	chr3:80663717-80663718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368778420	chr3:80663719-80663720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562562771	chr3:80663789-80663790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185418867	chr3:80663819-80663820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116610497	chr3:80663836-80663837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574014682	chr3:80663840-80663841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565113341	chr3:80663847-80663848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547921108	chr3:80663848-80663849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13066372	chr3:80663852-80663853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57097624	chr3:80663864-80663865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535083356	chr3:80663905-80663906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529229112	chr3:80663939-80663940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189578481	chr3:80663942-80663943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569004445	chr3:80663947-80663948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72324093	chr3:80663996-80663997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58371932	chr3:80664003-80664004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537973845	chr3:80664013-80664014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12637837	chr3:80664018-80664019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs9871623	chr3:80664049-80664050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573601738	chr3:80664084-80664085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61623958	chr3:80664090-80664091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147108977	chr3:80664113-80664114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149279409	chr3:80664116-80664117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56333849	chr3:80664120-80664121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75918768	chr3:80664121-80664122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73851782	chr3:80664125-80664126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565926232	chr3:80664154-80664155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547469376	chr3:80664230-80664231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574317089	chr3:80664245-80664246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	20808228	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80663000-80666800	Weak transcription	HepG2	liver

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