Variant report

Variant	esv1850902
Chromosome Location	chr2:49654581-49661323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1544915	chr2:49654581-49654582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561886681	chr2:49654583-49654584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529061100	chr2:49654584-49654585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149521902	chr2:49654596-49654597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552007349	chr2:49654607-49654608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569050662	chr2:49654610-49654611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533303547	chr2:49654611-49654612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552561007	chr2:49654636-49654637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10204612	chr2:49654658-49654659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147212418	chr2:49654672-49654673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138967231	chr2:49654702-49654703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568570067	chr2:49654712-49654713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535669118	chr2:49654721-49654722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528007496	chr2:49654723-49654724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10193709	chr2:49654727-49654728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10181357	chr2:49654736-49654737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539746915	chr2:49654747-49654748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112527429	chr2:49654756-49654757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184037139	chr2:49654780-49654781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186577019	chr2:49654797-49654798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540255914	chr2:49654814-49654815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561604445	chr2:49654836-49654837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573725020	chr2:49654873-49654874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72888636	chr2:49654926-49654927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200633571	chr2:49654941-49654942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376953624	chr2:49654942-49654943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146753657	chr2:49654943-49654944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398071290	chr2:49654945-49654946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562708614	chr2:49654988-49654989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533238217	chr2:49655007-49655008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189891737	chr2:49655022-49655023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555430334	chr2:49655043-49655044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560474735	chr2:49655046-49655047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528473320	chr2:49655055-49655056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547019994	chr2:49655081-49655082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142911229	chr2:49655102-49655103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535955094	chr2:49655107-49655108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550848598	chr2:49655168-49655169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74965582	chr2:49655182-49655183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200776737	chr2:49655192-49655193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539708124	chr2:49655195-49655196	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49653600-49654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49654000-49655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:49654000-49655200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:49654200-49655000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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