Variant report

Variant	esv3519677
Chromosome Location	chr2:78234794-78237692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550936656	chr2:78237046-78237047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566621692	chr2:78237054-78237055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184494400	chr2:78237065-78237066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80160429	chr2:78237142-78237143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145841065	chr2:78237153-78237154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13391371	chr2:78237200-78237201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557871900	chr2:78237242-78237243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115206768	chr2:78237250-78237251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189899718	chr2:78237263-78237264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540470850	chr2:78237298-78237299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386647629	chr2:78237299-78237300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553957529	chr2:78237301-78237302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182523663	chr2:78237318-78237319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4260274	chr2:78237319-78237320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144390567	chr2:78237332-78237333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563165534	chr2:78237381-78237382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563177704	chr2:78237420-78237421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575162758	chr2:78237427-78237428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187031481	chr2:78237435-78237436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551547092	chr2:78237437-78237438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140341093	chr2:78237444-78237445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74261138	chr2:78237449-78237450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533060984	chr2:78237457-78237458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538818923	chr2:78237466-78237467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546676762	chr2:78237476-78237477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560403095	chr2:78237490-78237491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529055803	chr2:78237492-78237493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146470102	chr2:78237519-78237520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569123773	chr2:78237562-78237563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140882685	chr2:78237564-78237565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551365039	chr2:78237575-78237576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112191553	chr2:78237586-78237587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534045155	chr2:78237625-78237626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574759397	chr2:78237643-78237644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570037920	chr2:78237675-78237676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78237000-78237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:78237200-78238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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