Variant report

Variant	esv3365258
Chromosome Location	chr3:78950762-78954460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368470845	chr3:78950784-78950785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146673442	chr3:78950812-78950813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75952404	chr3:78950813-78950814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs331199	chr3:78950882-78950883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371748922	chr3:78950920-78950921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75245328	chr3:78950928-78950929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534098197	chr3:78950986-78950987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370959758	chr3:78951003-78951004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567275795	chr3:78951062-78951063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115830506	chr3:78951071-78951072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556027116	chr3:78951073-78951074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191889891	chr3:78951096-78951097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565934200	chr3:78951097-78951098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558748198	chr3:78951101-78951102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572369387	chr3:78951149-78951150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372672461	chr3:78951233-78951234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77165904	chr3:78951240-78951241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530084005	chr3:78951311-78951312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140246450	chr3:78951374-78951375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560942845	chr3:78951506-78951507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531508584	chr3:78951583-78951584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142543784	chr3:78951606-78951607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376825344	chr3:78951608-78951609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543128226	chr3:78951665-78951666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551570878	chr3:78951689-78951690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571479302	chr3:78951701-78951702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182188751	chr3:78951727-78951728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547762446	chr3:78951728-78951729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540852203	chr3:78951741-78951742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150959382	chr3:78951748-78951749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557960626	chr3:78951765-78951766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188028410	chr3:78951870-78951871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556202227	chr3:78951948-78951949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569623667	chr3:78951949-78951950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs329817	chr3:78951950-78951951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558685731	chr3:78951982-78951983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572306741	chr3:78952010-78952011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541321253	chr3:78952034-78952035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554881280	chr3:78952047-78952048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574757534	chr3:78952077-78952078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140803912	chr3:78952078-78952079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546291568	chr3:78952099-78952100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562500902	chr3:78952120-78952121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192363112	chr3:78952127-78952128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73116718	chr3:78952189-78952190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78978148	chr3:78952233-78952234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527524195	chr3:78952365-78952366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185502929	chr3:78952370-78952371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150152501	chr3:78952381-78952382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190477664	chr3:78952405-78952406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78938200-78953400	Weak transcription	HepG2	liver
2	chr3:78949200-78960600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:78950400-78955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:78950400-78955400	Weak transcription	NHLF	lung
5	chr3:78953000-78953600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:78953400-78953800	Enhancers	HepG2	liver
7	chr3:78953600-78953800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:78953800-78955400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:78953800-78955400	Weak transcription	HepG2	liver

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