Variant report

Variant	esv32820
Chromosome Location	chr2:34504314-34506078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545567313	chr2:34505219-34505220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139980139	chr2:34505236-34505237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530235379	chr2:34505246-34505247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527983000	chr2:34505277-34505278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547687484	chr2:34505310-34505311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143453863	chr2:34505324-34505325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367582614	chr2:34505339-34505340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372122651	chr2:34505349-34505350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374574269	chr2:34505424-34505425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77774978	chr2:34505464-34505465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1978414	chr2:34505480-34505481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187277960	chr2:34505489-34505490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570341477	chr2:34505524-34505525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190914165	chr2:34505609-34505610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558716627	chr2:34505626-34505627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148713885	chr2:34505645-34505646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs41352546	chr2:34505647-34505648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554920292	chr2:34505672-34505673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558937239	chr2:34505691-34505692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543420578	chr2:34505703-34505704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557030359	chr2:34505755-34505756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576862257	chr2:34505762-34505763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12467806	chr2:34505794-34505795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142373754	chr2:34505806-34505807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151273989	chr2:34505836-34505837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541290216	chr2:34505845-34505846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12471653	chr2:34505864-34505865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530351201	chr2:34505893-34505894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549759137	chr2:34505910-34505911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372231724	chr2:34505958-34505959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73927775	chr2:34505976-34505977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551649885	chr2:34505980-34505981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141602701	chr2:34505996-34505997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145569828	chr2:34506012-34506013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73927776	chr2:34506043-34506044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534836447	chr2:34506071-34506072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545029069	chr2:34506076-34506077	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
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
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34505200-34505600	Enhancers	Fetal Lung	lung
2	chr2:34505600-34507400	Weak transcription	Fetal Lung	lung

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