Variant report

Variant	nsv961718
Chromosome Location	chr2:56444857-56453716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 352 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114845440	chr2:56444860-56444861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386646361	chr2:56444869-56444870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554498047	chr2:56444880-56444881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2869527	chr2:56444887-56444888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111769644	chr2:56444921-56444922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572825932	chr2:56444923-56444924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530076437	chr2:56444943-56444944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550498914	chr2:56444973-56444974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374717044	chr2:56445131-56445132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185422157	chr2:56445156-56445157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148695668	chr2:56445165-56445166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141307107	chr2:56445211-56445212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17268653	chr2:56445301-56445302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543310124	chr2:56445347-56445348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200066405	chr2:56445358-56445359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567724862	chr2:56445396-56445397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs727297	chr2:56445414-56445415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557020877	chr2:56445441-56445442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577057531	chr2:56445460-56445461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2216324	chr2:56445480-56445481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553110291	chr2:56445489-56445490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561630031	chr2:56445492-56445493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150773238	chr2:56445533-56445534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541548938	chr2:56445535-56445536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561319669	chr2:56445569-56445570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530462676	chr2:56445588-56445589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543831423	chr2:56445595-56445596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189092288	chr2:56445661-56445662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116339353	chr2:56445688-56445689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139663375	chr2:56445699-56445700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566277134	chr2:56445779-56445780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376799730	chr2:56445789-56445790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72801189	chr2:56446002-56446003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567811486	chr2:56446009-56446010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536689727	chr2:56446042-56446043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556899560	chr2:56446073-56446074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570682542	chr2:56446106-56446107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74834032	chr2:56446155-56446156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552952274	chr2:56446173-56446174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573078237	chr2:56446178-56446179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535642122	chr2:56446199-56446200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34733759	chr2:56446213-56446214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200518711	chr2:56446226-56446227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555144531	chr2:56446228-56446229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560682986	chr2:56446236-56446237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576000942	chr2:56446274-56446275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147689684	chr2:56446308-56446309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140743448	chr2:56446334-56446335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17047627	chr2:56446345-56446346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374723935	chr2:56446346-56446347	Weak transcription Strong transcription	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56438400-56446200	Weak transcription	HSMM	muscle
2	chr2:56439600-56451000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56446200-56446800	Strong transcription	HSMM	muscle
4	chr2:56446800-56454600	Weak transcription	HSMM	muscle
5	chr2:56451000-56451400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:56451200-56452000	Enhancers	HUVEC	blood vessel
7	chr2:56451400-56451600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr2:56451600-56452000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:56452000-56453000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:56452000-56454400	Weak transcription	HUVEC	blood vessel
11	chr2:56453000-56454800	Enhancers	Muscle Satellite Cultured Cells	--

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