Variant report

Variant	esv3342257
Chromosome Location	chr2:50564138-50564575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545285302	chr2:50564193-50564194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141766385	chr2:50564201-50564202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552584189	chr2:50564216-50564217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368230571	chr2:50564221-50564222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374223084	chr2:50564222-50564223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185944100	chr2:50564243-50564244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145510051	chr2:50564244-50564245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145408902	chr2:50564257-50564258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531421784	chr2:50564275-50564276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560791819	chr2:50564293-50564294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549641385	chr2:50564328-50564329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564894908	chr2:50564375-50564376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113714188	chr2:50564408-50564409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113271970	chr2:50564443-50564444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191056187	chr2:50564450-50564451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112345315	chr2:50564451-50564452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12466945	chr2:50564465-50564466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569779136	chr2:50564466-50564467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538333876	chr2:50564469-50564470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556419802	chr2:50564470-50564471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140769902	chr2:50564502-50564503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538599438	chr2:50564508-50564509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553769737	chr2:50564513-50564514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572371576	chr2:50564515-50564516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542949993	chr2:50564538-50564539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28581739	chr2:50564543-50564544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116619057	chr2:50564549-50564550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20531469	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50548400-50570600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:50560800-50569600	Weak transcription	Fetal Brain Female	brain
3	chr2:50562600-50570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:50562800-50565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:50563000-50564200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:50563000-50564200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:50563400-50571200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:50563600-50566000	Enhancers	Brain Germinal Matrix	brain
9	chr2:50563800-50564400	Enhancers	Fetal Brain Male	brain
10	chr2:50563800-50567400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:50564000-50567600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:50564000-50569400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:50564000-50571000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:50564200-50571400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:50564400-50565200	Weak transcription	Fetal Brain Male	brain

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