Variant report

Variant	esv3418092
Chromosome Location	chr2:56511848-56513796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562416796	chr2:56511857-56511858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531219022	chr2:56511913-56511914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140992340	chr2:56511927-56511928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180886285	chr2:56511940-56511941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143729420	chr2:56511948-56511949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546683973	chr2:56511998-56511999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13403867	chr2:56512002-56512003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535124682	chr2:56512075-56512076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367876125	chr2:56512076-56512077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72927170	chr2:56512077-56512078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529242354	chr2:56512093-56512094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538159003	chr2:56512114-56512115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549066884	chr2:56512158-56512159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376333767	chr2:56512247-56512248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77389546	chr2:56512248-56512249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78288237	chr2:56512249-56512250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557740108	chr2:56512272-56512273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577773507	chr2:56512276-56512277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540016337	chr2:56512278-56512279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568967918	chr2:56512305-56512306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559930002	chr2:56512346-56512347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185503623	chr2:56512350-56512351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536860738	chr2:56512359-56512360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562078887	chr2:56512381-56512382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556847515	chr2:56512382-56512383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530782069	chr2:56512431-56512432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570603927	chr2:56512463-56512464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539386333	chr2:56512470-56512471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564583884	chr2:56512481-56512482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533613998	chr2:56512520-56512521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151280730	chr2:56512544-56512545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572921946	chr2:56512565-56512566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541800887	chr2:56512574-56512575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528942075	chr2:56512584-56512585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200306956	chr2:56512586-56512587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374075270	chr2:56512591-56512592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548634684	chr2:56512601-56512602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201540051	chr2:56512604-56512605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112023454	chr2:56512629-56512630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199739421	chr2:56512631-56512632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371368312	chr2:56512632-56512633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375379720	chr2:56512633-56512634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377753867	chr2:56512634-56512635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60469478	chr2:56512635-56512636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367655581	chr2:56512636-56512637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555510759	chr2:56512707-56512708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568857131	chr2:56512748-56512749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369608095	chr2:56512800-56512801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190215392	chr2:56512874-56512875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79879239	chr2:56512939-56512940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56488000-56514000	Weak transcription	HSMM	muscle
2	chr2:56503200-56513400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56513400-56516400	Enhancers	Muscle Satellite Cultured Cells	--

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