Variant report

Variant	esv3398347
Chromosome Location	chr2:21922397-21924395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144101346	chr2:21922589-21922590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143544772	chr2:21922590-21922591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555374674	chr2:21922591-21922592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79876801	chr2:21922616-21922617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80137452	chr2:21922627-21922628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186196399	chr2:21922642-21922643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577768622	chr2:21922663-21922664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191434437	chr2:21922831-21922832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573010879	chr2:21922838-21922839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556876181	chr2:21922865-21922866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539840601	chr2:21922878-21922879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183423678	chr2:21922892-21922893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573921491	chr2:21922932-21922933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147971664	chr2:21922933-21922934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542929318	chr2:21922946-21922947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561771359	chr2:21922985-21922986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76647706	chr2:21923017-21923018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528065692	chr2:21923067-21923068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556905136	chr2:21923072-21923073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573986150	chr2:21923077-21923078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545142684	chr2:21923078-21923079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558904853	chr2:21923085-21923086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369627797	chr2:21923099-21923100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71897545	chr2:21923108-21923109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112941942	chr2:21923113-21923114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564933821	chr2:21923114-21923115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533365830	chr2:21923115-21923116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550390258	chr2:21923137-21923138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202116021	chr2:21923139-21923140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561159880	chr2:21923140-21923141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574662547	chr2:21923146-21923147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71897323	chr2:21923147-21923148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9712043	chr2:21923158-21923159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570135232	chr2:21923160-21923161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9712044	chr2:21923162-21923163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540412946	chr2:21923171-21923172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201591646	chr2:21923172-21923173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529617843	chr2:21923186-21923187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549236576	chr2:21923189-21923190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565749545	chr2:21923191-21923192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534656853	chr2:21923200-21923201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200718318	chr2:21923229-21923230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557830947	chr2:21923244-21923245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538951382	chr2:21923256-21923257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188817970	chr2:21923265-21923266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9712051	chr2:21923275-21923276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557157945	chr2:21923277-21923278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61536949	chr2:21923287-21923288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57189089	chr2:21923295-21923296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573734495	chr2:21923297-21923298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21920600-21923400	Weak transcription	Fetal Heart	heart
2	chr2:21923400-21927400	Enhancers	Fetal Heart	heart

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