Variant report

Variant	nsv873864
Chromosome Location	chr2:35915865-35943597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:378 , 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	rs148039786	chr2:35917823-35917824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539433276	chr2:35917827-35917828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551778583	chr2:35917831-35917832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575768744	chr2:35917844-35917845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75313955	chr2:35917850-35917851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115921692	chr2:35917851-35917852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140479810	chr2:35917879-35917880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573850956	chr2:35917885-35917886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150431363	chr2:35917888-35917889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375241151	chr2:35917894-35917895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553381864	chr2:35917979-35917980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573148782	chr2:35917990-35917991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578222827	chr2:35918002-35918003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540550233	chr2:35918008-35918009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545459852	chr2:35918033-35918034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564035808	chr2:35918039-35918040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576115691	chr2:35918050-35918051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543495111	chr2:35918051-35918052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561810882	chr2:35918103-35918104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529089184	chr2:35918136-35918137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561878786	chr2:35918156-35918157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58187040	chr2:35918157-35918158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565853462	chr2:35918181-35918182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559362421	chr2:35918185-35918186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189285321	chr2:35918186-35918187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367936475	chr2:35918205-35918206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370913072	chr2:35918208-35918209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114846098	chr2:35918214-35918215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569676889	chr2:35918249-35918250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550796509	chr2:35918273-35918274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182161311	chr2:35918298-35918299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186780354	chr2:35918318-35918319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549064654	chr2:35918333-35918334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62145423	chr2:35918349-35918350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534890803	chr2:35918365-35918366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557894324	chr2:35922848-35922849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577423508	chr2:35922862-35922863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185618444	chr2:35922934-35922935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190777927	chr2:35922956-35922957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146432128	chr2:35922995-35922996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574344404	chr2:35923018-35923019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556479675	chr2:35923021-35923022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541845563	chr2:35923027-35923028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544851583	chr2:35923035-35923036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11894481	chr2:35923037-35923038	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527354643	chr2:35923051-35923052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368088693	chr2:35923053-35923054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs35949772	chr2:35923078-35923079	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76233189	chr2:35923092-35923093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531538282	chr2:35923093-35923094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35943200-35943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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