Variant report

Variant	esv3436001
Chromosome Location	chr2:77534344-77535842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532550281	chr2:77534366-77534367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546415332	chr2:77534382-77534383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184508355	chr2:77534413-77534414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66589150	chr2:77534449-77534450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138990746	chr2:77534463-77534464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375902711	chr2:77534474-77534475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188362265	chr2:77534483-77534484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529702532	chr2:77534592-77534593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181266470	chr2:77534597-77534598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368810497	chr2:77534598-77534599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530512086	chr2:77534633-77534634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114702047	chr2:77534641-77534642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67621975	chr2:77534653-77534654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563965367	chr2:77534688-77534689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558316201	chr2:77534706-77534707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13028297	chr2:77534808-77534809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60916964	chr2:77534810-77534811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61486428	chr2:77534812-77534813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58708170	chr2:77534829-77534830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60104270	chr2:77534837-77534838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9752201	chr2:77534843-77534844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57567391	chr2:77534851-77534852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58327441	chr2:77534856-77534857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61409611	chr2:77534864-77534865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9752208	chr2:77534878-77534879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61228927	chr2:77534893-77534894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61172637	chr2:77534899-77534900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60666776	chr2:77534907-77534908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9752211	chr2:77534913-77534914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58929077	chr2:77534914-77534915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59036389	chr2:77534935-77534936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111419240	chr2:77535071-77535072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568215495	chr2:77535119-77535120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72488514	chr2:77535120-77535121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568968057	chr2:77535124-77535125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565565943	chr2:77535125-77535126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13431950	chr2:77535143-77535144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567079375	chr2:77535175-77535176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13418519	chr2:77535184-77535185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13393008	chr2:77535190-77535191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184282168	chr2:77535206-77535207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554456038	chr2:77535208-77535209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369678758	chr2:77535243-77535244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66800056	chr2:77535244-77535245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61111822	chr2:77535246-77535247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574700031	chr2:77535254-77535255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543802584	chr2:77535338-77535339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147529028	chr2:77535361-77535362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189048200	chr2:77535389-77535390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139085017	chr2:77535418-77535419	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77529800-77535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77535400-77536400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77535400-77536600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77535600-77536000	Enhancers	Fetal Lung	lung

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