Variant report

Variant	esv3456916
Chromosome Location	chr2:36408148-36413446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 348 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184358860	chr2:36408148-36408149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189056626	chr2:36408167-36408168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569916562	chr2:36408168-36408169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150543643	chr2:36408174-36408175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528332612	chr2:36408183-36408184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111852060	chr2:36408188-36408189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540540698	chr2:36408199-36408200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370792262	chr2:36408208-36408209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139461840	chr2:36408237-36408238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374662214	chr2:36408251-36408252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368145039	chr2:36408252-36408253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375512343	chr2:36408305-36408306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79923388	chr2:36408319-36408320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535223390	chr2:36408344-36408345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149677357	chr2:36408351-36408352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76658129	chr2:36408377-36408378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180963822	chr2:36408408-36408409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145467340	chr2:36408451-36408452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575919546	chr2:36408465-36408466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544466061	chr2:36408468-36408469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555155739	chr2:36408473-36408474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140370488	chr2:36408515-36408516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112662492	chr2:36408539-36408540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529072613	chr2:36408549-36408550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116259304	chr2:36408589-36408590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11124500	chr2:36408593-36408594	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533071813	chr2:36408597-36408598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544944192	chr2:36408612-36408613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76902624	chr2:36408637-36408638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144163024	chr2:36408647-36408648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375007227	chr2:36408683-36408684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530794607	chr2:36408692-36408693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369481968	chr2:36408710-36408711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549494954	chr2:36408736-36408737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375077618	chr2:36408738-36408739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567761000	chr2:36408749-36408750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528549812	chr2:36408751-36408752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185402498	chr2:36408753-36408754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533064798	chr2:36408776-36408777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547228212	chr2:36408793-36408794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551357122	chr2:36408796-36408797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571837274	chr2:36408799-36408800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539341183	chr2:36408849-36408850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72796309	chr2:36408856-36408857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189333824	chr2:36408861-36408862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3856489	chr2:36408912-36408913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181549093	chr2:36408958-36408959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11899943	chr2:36408966-36408967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573409136	chr2:36408969-36408970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373245799	chr2:36408984-36408985	Enhancers 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:4 , 50 per page) page: 1

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

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