Variant report

Variant	esv3428895
Chromosome Location	chr2:33695304-33695814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543891766	chr2:33695318-33695319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563753528	chr2:33695328-33695329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79965734	chr2:33695329-33695330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546205962	chr2:33695335-33695336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145068149	chr2:33695356-33695357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372337821	chr2:33695357-33695358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4670566	chr2:33695378-33695379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547792270	chr2:33695383-33695384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567668480	chr2:33695399-33695400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530539847	chr2:33695409-33695410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12712340	chr2:33695424-33695425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76150988	chr2:33695439-33695440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201399038	chr2:33695448-33695449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34404371	chr2:33695463-33695464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543905639	chr2:33695464-33695465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11682041	chr2:33695506-33695507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546628195	chr2:33695508-33695509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537388900	chr2:33695531-33695532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113516741	chr2:33695540-33695541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369237870	chr2:33695547-33695548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181829664	chr2:33695550-33695551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183723436	chr2:33695554-33695555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11682095	chr2:33695572-33695573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534427755	chr2:33695586-33695587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577410510	chr2:33695592-33695593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546369116	chr2:33695594-33695595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11124318	chr2:33695595-33695596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573200621	chr2:33695602-33695603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542087962	chr2:33695603-33695604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561359720	chr2:33695608-33695609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112271764	chr2:33695620-33695621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372573401	chr2:33695637-33695638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113172723	chr2:33695640-33695641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148216722	chr2:33695655-33695656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370996383	chr2:33695690-33695691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373757133	chr2:33695697-33695698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181562598	chr2:33695698-33695699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186183420	chr2:33695724-33695725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549264910	chr2:33695737-33695738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568503131	chr2:33695741-33695742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537437636	chr2:33695754-33695755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112454533	chr2:33695760-33695761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6729742	chr2:33695771-33695772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191863228	chr2:33695783-33695784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539501196	chr2:33695800-33695801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13023895	chr2:33695801-33695802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Acute lymphoblastic leukemia	18458336	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
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33693000-33695600	Weak transcription	Left Ventricle	heart
2	chr2:33693000-33696200	Weak transcription	Psoas Muscle	Psoas
3	chr2:33693000-33697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:33693000-33697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:33693000-33698600	Weak transcription	Right Ventricle	heart
6	chr2:33693000-33699600	Weak transcription	Fetal Heart	heart
7	chr2:33695400-33695600	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:33695600-33696600	Enhancers	Left Ventricle	heart
9	chr2:33695600-33700600	Weak transcription	Fetal Muscle Trunk	muscle

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