Variant report

Variant	esv3421572
Chromosome Location	chr2:50556398-50557496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568483362	chr2:50556416-50556417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77157966	chr2:50556417-50556418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143722508	chr2:50556434-50556435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569472016	chr2:50556435-50556436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539686364	chr2:50556436-50556437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182176503	chr2:50556443-50556444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572823120	chr2:50556451-50556452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558530585	chr2:50556455-50556456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187290961	chr2:50556471-50556472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374323538	chr2:50556486-50556487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544095862	chr2:50556498-50556499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562480841	chr2:50556519-50556520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533063541	chr2:50556535-50556536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191656495	chr2:50556538-50556539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6736896	chr2:50556550-50556551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151054693	chr2:50556558-50556559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547107349	chr2:50556577-50556578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562043513	chr2:50556592-50556593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141050516	chr2:50556593-50556594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146660566	chr2:50556594-50556595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544065780	chr2:50556608-50556609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60043047	chr2:50556652-50556653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115027204	chr2:50556657-50556658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6737125	chr2:50556671-50556672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201464062	chr2:50556689-50556690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142661549	chr2:50556717-50556718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374897378	chr2:50556755-50556756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7559931	chr2:50556757-50556758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56269149	chr2:50556759-50556760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2681980	chr2:50556765-50556766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576406404	chr2:50556803-50556804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2682001	chr2:50556813-50556814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527683721	chr2:50556814-50556815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370733110	chr2:50556815-50556816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567088259	chr2:50556836-50556837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114579001	chr2:50556867-50556868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111738169	chr2:50556896-50556897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13421979	chr2:50556911-50556912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13421985	chr2:50556930-50556931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199900194	chr2:50556933-50556934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143355852	chr2:50556937-50556938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537405772	chr2:50556947-50556948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555740216	chr2:50556972-50556973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112429792	chr2:50556974-50556975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545307335	chr2:50556985-50556986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560075451	chr2:50557017-50557018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574325970	chr2:50557044-50557045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572235715	chr2:50557061-50557062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540368780	chr2:50557062-50557063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201915948	chr2:50557069-50557070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Autism	20848651	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50548400-50570600	Weak transcription	Brain Angular Gyrus	brain

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