Variant report

Variant	nsv2674
Chromosome Location	chr2:35800855-35845742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1365 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1365 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572358010	chr2:35800875-35800876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546229337	chr2:35800934-35800935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376712973	chr2:35800949-35800950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558225798	chr2:35800980-35800981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374548296	chr2:35801028-35801029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182245165	chr2:35801031-35801032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543085864	chr2:35801041-35801042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11684649	chr2:35801045-35801046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562295034	chr2:35801071-35801072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142491061	chr2:35801107-35801108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76579732	chr2:35801109-35801110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2372008	chr2:35801114-35801115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs144873616	chr2:35801118-35801119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551751773	chr2:35801127-35801128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568665745	chr2:35801129-35801130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373968614	chr2:35801135-35801136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531288415	chr2:35801163-35801164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115639396	chr2:35801170-35801171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185216880	chr2:35801191-35801192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111313352	chr2:35801197-35801198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547629875	chr2:35801217-35801218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6737476	chr2:35801218-35801219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11384971	chr2:35801222-35801223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397972370	chr2:35801236-35801237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200382830	chr2:35801237-35801238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539792879	chr2:35801254-35801255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148859812	chr2:35801268-35801269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576543665	chr2:35801272-35801273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190815397	chr2:35801322-35801323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555580785	chr2:35801327-35801328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2719114	chr2:35801347-35801348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554546675	chr2:35801356-35801357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577306399	chr2:35801357-35801358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201218394	chr2:35801364-35801365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142241182	chr2:35801365-35801366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541254092	chr2:35801390-35801391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117549792	chr2:35801426-35801427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2007672	chr2:35801430-35801431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184092873	chr2:35801442-35801443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563703502	chr2:35801445-35801446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531229351	chr2:35801500-35801501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549803514	chr2:35801529-35801530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188629246	chr2:35801533-35801534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529025929	chr2:35801604-35801605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533225898	chr2:35801611-35801612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547274248	chr2:35801682-35801683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192924554	chr2:35801747-35801748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs934970	chr2:35801817-35801818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558735944	chr2:35801833-35801834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551716643	chr2:35801905-35801906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35800800-35803200	Weak transcription	Pancreas	Pancrea
2	chr2:35802800-35803600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35803200-35803400	Enhancers	Pancreas	Pancrea
4	chr2:35803200-35803800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr2:35808000-35813400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35820000-35821600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35823200-35826000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35823400-35825200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:35823400-35825200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:35823400-35825200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:35825000-35825200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:35826800-35827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35827800-35833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35833400-35834200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35834200-35851800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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