Variant report

Variant	esv2762554
Chromosome Location	chr2:49277773-49280355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80156431	chr2:49279226-49279227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138010202	chr2:49279235-49279236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528246321	chr2:49279263-49279264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72827295	chr2:49279271-49279272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568121675	chr2:49279283-49279284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535446384	chr2:49279306-49279307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557044730	chr2:49279314-49279315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568753370	chr2:49279344-49279345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540163051	chr2:49279377-49279378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558148714	chr2:49279406-49279407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74739257	chr2:49279407-49279408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573397815	chr2:49279417-49279418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182091486	chr2:49279447-49279448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186685560	chr2:49279468-49279469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573842722	chr2:49279500-49279501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144870135	chr2:49279503-49279504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13032266	chr2:49279520-49279521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17038187	chr2:49279555-49279556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533150839	chr2:49279579-49279580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546101888	chr2:49279597-49279598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564191661	chr2:49279599-49279600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533321888	chr2:49279614-49279615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533300645	chr2:49279620-49279621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546770664	chr2:49279628-49279629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568261507	chr2:49279635-49279636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1504186	chr2:49279644-49279645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550681347	chr2:49279661-49279662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62162081	chr2:49279672-49279673	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527512067	chr2:49279685-49279686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370487433	chr2:49279735-49279736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192821612	chr2:49279747-49279748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150569076	chr2:49279779-49279780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12105926	chr2:49279790-49279791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1504188	chr2:49279833-49279834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184962174	chr2:49279867-49279868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35054867	chr2:49279891-49279892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10199061	chr2:49279893-49279894	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556354101	chr2:49279904-49279905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1504189	chr2:49279932-49279933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188627289	chr2:49279937-49279938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149326740	chr2:49279940-49279941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6734724	chr2:49279952-49279953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192972930	chr2:49280028-49280029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561900144	chr2:49280033-49280034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79142192	chr2:49280044-49280045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550719504	chr2:49280117-49280118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147445176	chr2:49280167-49280168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532942182	chr2:49280194-49280195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551134980	chr2:49280195-49280196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570920713	chr2:49280209-49280210	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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 cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49279200-49280400	Enhancers	Fetal Brain Male	brain

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