Variant report

Variant	esv3460974
Chromosome Location	chr2:36408748-36412746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567761000	chr2:36408749-36408750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528549812	chr2:36408751-36408752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185402498	chr2:36408753-36408754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533064798	chr2:36408776-36408777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547228212	chr2:36408793-36408794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551357122	chr2:36408796-36408797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571837274	chr2:36408799-36408800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539341183	chr2:36408849-36408850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72796309	chr2:36408856-36408857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189333824	chr2:36408861-36408862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3856489	chr2:36408912-36408913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181549093	chr2:36408958-36408959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11899943	chr2:36408966-36408967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573409136	chr2:36408969-36408970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373245799	chr2:36408984-36408985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540690509	chr2:36408986-36408987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146477377	chr2:36408996-36408997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560942646	chr2:36409000-36409001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538429469	chr2:36409004-36409005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531469513	chr2:36409006-36409007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577391736	chr2:36409008-36409009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545318183	chr2:36409018-36409019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199558702	chr2:36409024-36409025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530979421	chr2:36409026-36409027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542661048	chr2:36409032-36409033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561228298	chr2:36409034-36409035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369839421	chr2:36409035-36409036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13013608	chr2:36409036-36409037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148125579	chr2:36409038-36409039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140929458	chr2:36409040-36409041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532583039	chr2:36409042-36409043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553720512	chr2:36409046-36409047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1630400	chr2:36409062-36409063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536908822	chr2:36409064-36409065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542691781	chr2:36409076-36409077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11885232	chr2:36409086-36409087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545331961	chr2:36409089-36409090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190048437	chr2:36409096-36409097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533135108	chr2:36409105-36409106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534436976	chr2:36409112-36409113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552632588	chr2:36409124-36409125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571464095	chr2:36409125-36409126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577806255	chr2:36409126-36409127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538450454	chr2:36409134-36409135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557074151	chr2:36409143-36409144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181293485	chr2:36409144-36409145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114949272	chr2:36409146-36409147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376058480	chr2:36409150-36409151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561291499	chr2:36409154-36409155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201231147	chr2:36409157-36409158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36406400-36413800	Weak transcription	Gastric	stomach
2	chr2:36408400-36409000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:36408600-36408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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