Variant report

Variant	esv3410450
Chromosome Location	chr2:50824898-50826996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201234405	chr2:50824898-50824899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571664217	chr2:50824942-50824943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539079541	chr2:50824992-50824993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547474353	chr2:50825019-50825020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370847728	chr2:50825043-50825044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565733595	chr2:50825050-50825051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575438140	chr2:50825079-50825080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1971730	chr2:50825131-50825132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs377486082	chr2:50825151-50825152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186878859	chr2:50825169-50825170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191613885	chr2:50825201-50825202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537269633	chr2:50825202-50825203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578166948	chr2:50825213-50825214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571021377	chr2:50825214-50825215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540694119	chr2:50825218-50825219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535346559	chr2:50825224-50825225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553416376	chr2:50825225-50825226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576875422	chr2:50825271-50825272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371332084	chr2:50825303-50825304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116302817	chr2:50825372-50825373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559440293	chr2:50825377-50825378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574478782	chr2:50825391-50825392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184433659	chr2:50825427-50825428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115351126	chr2:50825464-50825465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149674848	chr2:50825500-50825501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145441334	chr2:50825501-50825502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547512187	chr2:50825514-50825515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367615741	chr2:50825531-50825532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539402382	chr2:50825565-50825566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570333078	chr2:50825583-50825584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17538414	chr2:50825621-50825622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188924255	chr2:50825683-50825684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546244675	chr2:50825690-50825691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555582104	chr2:50825700-50825701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138387519	chr2:50825701-50825702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12619580	chr2:50825702-50825703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547476682	chr2:50825706-50825707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201001780	chr2:50825716-50825717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565770482	chr2:50825736-50825737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536223015	chr2:50825738-50825739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548148804	chr2:50825745-50825746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534822001	chr2:50825749-50825750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10170990	chr2:50825750-50825751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537710770	chr2:50825757-50825758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6757950	chr2:50825760-50825761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578009971	chr2:50825771-50825772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571022031	chr2:50825791-50825792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534462741	chr2:50825800-50825801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201133390	chr2:50825832-50825833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202238419	chr2:50825849-50825850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50802600-50832400	Weak transcription	Fetal Brain Female	brain
2	chr2:50812400-50827200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50820000-50833400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:50820600-50834200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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