Variant report

Variant	esv1799799
Chromosome Location	chr2:49033059-49037986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571990434	chr2:49033059-49033060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72811839	chr2:49033069-49033070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187880962	chr2:49033076-49033077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113770862	chr2:49033153-49033154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115098895	chr2:49033157-49033158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12619514	chr2:49033183-49033184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538099795	chr2:49033212-49033213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541043300	chr2:49033258-49033259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191049017	chr2:49033273-49033274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182388400	chr2:49033274-49033275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149467204	chr2:49033275-49033276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550451621	chr2:49033290-49033291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187931681	chr2:49033311-49033312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62137362	chr2:49033377-49033378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72811841	chr2:49033417-49033418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6744399	chr2:49033426-49033427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147164552	chr2:49033438-49033439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568162934	chr2:49033441-49033442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192615391	chr2:49033442-49033443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184809380	chr2:49033444-49033445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372420807	chr2:49033473-49033474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553942363	chr2:49033484-49033485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187153119	chr2:49033504-49033505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140451693	chr2:49033527-49033528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6729545	chr2:49033542-49033543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576856349	chr2:49033642-49033643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541155729	chr2:49033654-49033655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553003842	chr2:49033670-49033671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6729798	chr2:49033686-49033687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548239050	chr2:49033699-49033700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114955675	chr2:49033713-49033714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564028657	chr2:49033717-49033718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192066804	chr2:49033755-49033756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62137363	chr2:49033757-49033758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144363801	chr2:49033787-49033788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528561071	chr2:49033791-49033792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546729675	chr2:49033821-49033822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141434632	chr2:49033824-49033825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201544293	chr2:49033829-49033830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529252413	chr2:49033836-49033837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537023892	chr2:49033859-49033860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72811843	chr2:49033865-49033866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536981512	chr2:49033878-49033879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369046952	chr2:49033884-49033885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184513832	chr2:49033893-49033894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147826631	chr2:49033943-49033944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72811844	chr2:49033945-49033946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377111501	chr2:49033961-49033962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4432506	chr2:49033965-49033966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10195401	chr2:49033973-49033974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49027200-49037000	Weak transcription	Ovary	ovary
3	chr2:49032800-49039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:49037000-49037200	Strong transcription	Ovary	ovary
5	chr2:49037200-49045400	Weak transcription	Ovary	ovary

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