Variant report

Variant	esv3339157
Chromosome Location	chr2:31980448-31984646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192900351	chr2:31982065-31982066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565730504	chr2:31982076-31982077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534647035	chr2:31982112-31982113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548034370	chr2:31982124-31982125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567727334	chr2:31982147-31982148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574121773	chr2:31982162-31982163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538535098	chr2:31982186-31982187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149111117	chr2:31982204-31982205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142194974	chr2:31982213-31982214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184968569	chr2:31982254-31982255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188763657	chr2:31982294-31982295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555620023	chr2:31982299-31982300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181584860	chr2:31982316-31982317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562325513	chr2:31982320-31982321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575722838	chr2:31982352-31982353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184594068	chr2:31982383-31982384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564310392	chr2:31982394-31982395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533511574	chr2:31982463-31982464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540370748	chr2:31982477-31982478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189229613	chr2:31982514-31982515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182244375	chr2:31982516-31982517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548095606	chr2:31982568-31982569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567986908	chr2:31982577-31982578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530692344	chr2:31982585-31982586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550583014	chr2:31982618-31982619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570340766	chr2:31982621-31982622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146759152	chr2:31982629-31982630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552745767	chr2:31982631-31982632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567062468	chr2:31982633-31982634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536022915	chr2:31982667-31982668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556116492	chr2:31982689-31982690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76114318	chr2:31982698-31982699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148855594	chr2:31982699-31982700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576042295	chr2:31982778-31982779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113828074	chr2:31982782-31982783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186045881	chr2:31982789-31982790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112881196	chr2:31982811-31982812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540733016	chr2:31982812-31982813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560352279	chr2:31982831-31982832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528293861	chr2:31982833-31982834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541649606	chr2:31982834-31982835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561528480	chr2:31982869-31982870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140515806	chr2:31982917-31982918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550594428	chr2:31982920-31982921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570429864	chr2:31982959-31982960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578192718	chr2:31982977-31982978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7570819	chr2:31982986-31982987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546690138	chr2:31983008-31983009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566544423	chr2:31983077-31983078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190966903	chr2:31983082-31983083	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
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
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
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	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
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	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
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31982000-31983800	Enhancers	HepG2	liver
2	chr2:31982800-31983600	Enhancers	Fetal Intestine Large	intestine
3	chr2:31984600-31984800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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