Variant report

Variant	esv3436514
Chromosome Location	chr2:50674348-50675546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202078678	chr2:50674360-50674361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148036595	chr2:50674395-50674396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538167871	chr2:50674410-50674411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369263001	chr2:50674455-50674456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556479704	chr2:50674462-50674463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1915169	chr2:50674531-50674532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111369930	chr2:50674569-50674570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13014251	chr2:50674573-50674574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573328120	chr2:50674581-50674582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35878890	chr2:50674630-50674631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57041108	chr2:50674642-50674643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540370749	chr2:50674661-50674662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562143394	chr2:50674667-50674668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529258918	chr2:50674788-50674789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115273212	chr2:50674837-50674838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200781049	chr2:50674860-50674861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34330104	chr2:50674870-50674871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370066758	chr2:50674876-50674877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34602832	chr2:50674877-50674878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4276063	chr2:50674878-50674879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200200738	chr2:50674879-50674880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70948710	chr2:50674898-50674899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202098569	chr2:50674936-50674937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562812741	chr2:50674939-50674940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533350881	chr2:50674977-50674978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551516600	chr2:50675023-50675024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566939369	chr2:50675061-50675062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533934382	chr2:50675076-50675077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548781797	chr2:50675093-50675094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573624885	chr2:50675101-50675102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139993365	chr2:50675108-50675109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115559191	chr2:50675110-50675111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556501892	chr2:50675116-50675117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571526974	chr2:50675130-50675131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538925764	chr2:50675182-50675183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554056665	chr2:50675199-50675200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572128037	chr2:50675221-50675222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540757644	chr2:50675228-50675229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114390585	chr2:50675243-50675244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574002972	chr2:50675272-50675273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544151959	chr2:50675282-50675283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542343646	chr2:50675305-50675306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560363324	chr2:50675308-50675309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72878310	chr2:50675324-50675325	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533483891	chr2:50675325-50675326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143468099	chr2:50675355-50675356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373600564	chr2:50675393-50675394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560765290	chr2:50675439-50675440	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527865543	chr2:50675459-50675460	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549076277	chr2:50675475-50675476	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50671000-50675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:50671400-50675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:50672400-50675200	Weak transcription	Stomach Mucosa	stomach
4	chr2:50672400-50675400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:50673000-50675400	Weak transcription	Hela-S3	cervix
6	chr2:50673800-50684200	Weak transcription	Fetal Brain Male	brain
7	chr2:50675200-50675600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:50675200-50676600	Enhancers	Fetal Brain Female	brain
9	chr2:50675400-50675600	Enhancers	Stomach Mucosa	stomach
10	chr2:50675400-50676000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr2:50675400-50677000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:50675400-50677200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:50675400-50677400	Enhancers	Hela-S3	cervix

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