Variant report

Variant	esv2203926
Chromosome Location	chr2:49561297-49561817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530600796	chr2:49561307-49561308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187750878	chr2:49561321-49561322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529971919	chr2:49561331-49561332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546671910	chr2:49561335-49561336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192373628	chr2:49561342-49561343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535444606	chr2:49561365-49561366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550129194	chr2:49561366-49561367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78151732	chr2:49561394-49561395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534082539	chr2:49561603-49561604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555839633	chr2:49561660-49561661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563831516	chr2:49561687-49561688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574015027	chr2:49561699-49561700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544615464	chr2:49561709-49561710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77686455	chr2:49561711-49561712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575645190	chr2:49561718-49561719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2098988	chr2:49561747-49561748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564321067	chr2:49561756-49561757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183201082	chr2:49561757-49561758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561057601	chr2:49561780-49561781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188083754	chr2:49561791-49561792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561838987	chr2:49561809-49561810	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49561200-49561400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49561600-49561800	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:49561600-49562800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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