Variant report

Variant	esv3332454
Chromosome Location	chr2:57330998-57332946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142055184	chr2:57332247-57332248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576771757	chr2:57332276-57332277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545571974	chr2:57332278-57332279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563341634	chr2:57332297-57332298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146286179	chr2:57332332-57332333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147511655	chr2:57332363-57332364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572568254	chr2:57332368-57332369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541929406	chr2:57332390-57332391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11888240	chr2:57332424-57332425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545740998	chr2:57332435-57332436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543918703	chr2:57332467-57332468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185011548	chr2:57332481-57332482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139410826	chr2:57332555-57332556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189894165	chr2:57332584-57332585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538191978	chr2:57332585-57332586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72811313	chr2:57332601-57332602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577623985	chr2:57332602-57332603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566301269	chr2:57332608-57332609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1559556	chr2:57332617-57332618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72811315	chr2:57332645-57332646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572918674	chr2:57332670-57332671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1559557	chr2:57332673-57332674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537447318	chr2:57332695-57332696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556964213	chr2:57332714-57332715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146493383	chr2:57332717-57332718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200926599	chr2:57332741-57332742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1559558	chr2:57332763-57332764	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552720605	chr2:57332767-57332768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78517887	chr2:57332773-57332774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541701123	chr2:57332776-57332777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555438325	chr2:57332792-57332793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575272149	chr2:57332814-57332815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368128744	chr2:57332883-57332884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564088967	chr2:57332895-57332896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534934200	chr2:57332928-57332929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554184908	chr2:57332930-57332931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115572888	chr2:57332937-57332938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
2	chr2:57332400-57332600	Enhancers	Liver	Liver
3	chr2:57332800-57334000	Weak transcription	Liver	Liver

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