Variant report

Variant	esv3412697
Chromosome Location	chr2:34018638-34019552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6718780	chr2:34018690-34018691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73926386	chr2:34018727-34018728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114015316	chr2:34018763-34018764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62150613	chr2:34018767-34018768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367777382	chr2:34018826-34018827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139135988	chr2:34018828-34018829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529246509	chr2:34018849-34018850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540284038	chr2:34018852-34018853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569437697	chr2:34018855-34018856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538556072	chr2:34018868-34018869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551553948	chr2:34018895-34018896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115346621	chr2:34018900-34018901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6732386	chr2:34018904-34018905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553403368	chr2:34018923-34018924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75587425	chr2:34018972-34018973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368152426	chr2:34018983-34018984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150452190	chr2:34018994-34018995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556993262	chr2:34019023-34019024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374804088	chr2:34019032-34019033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542876477	chr2:34019049-34019050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561607090	chr2:34019058-34019059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6706798	chr2:34019074-34019075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6722009	chr2:34019089-34019090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545328246	chr2:34019135-34019136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112374559	chr2:34019136-34019137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6706832	chr2:34019152-34019153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184191713	chr2:34019175-34019176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560538825	chr2:34019177-34019178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372343764	chr2:34019181-34019182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201956920	chr2:34019186-34019187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188512920	chr2:34019196-34019197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562944690	chr2:34019221-34019222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141523559	chr2:34019319-34019320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551616639	chr2:34019349-34019350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200232118	chr2:34019375-34019376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6735662	chr2:34019376-34019377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572030711	chr2:34019442-34019443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146227946	chr2:34019470-34019471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111784451	chr2:34019497-34019498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536231573	chr2:34019538-34019539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567234034	chr2:34019540-34019541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536394425	chr2:34019541-34019542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555877903	chr2:34019542-34019543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569594813	chr2:34019544-34019545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538642983	chr2:34019545-34019546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558865349	chr2:34019547-34019548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572389206	chr2:34019548-34019549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34013400-34021000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:34017200-34021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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