Variant report

Variant	esv3332262
Chromosome Location	chr2:35786350-35815764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 452 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111266492	chr2:35794465-35794466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548231184	chr2:35794466-35794467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117454494	chr2:35794492-35794493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569875898	chr2:35794538-35794539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558878562	chr2:35794540-35794541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72866324	chr2:35794562-35794563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192638206	chr2:35794583-35794584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs556914240	chr2:35794613-35794614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575285837	chr2:35794631-35794632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184257397	chr2:35794654-35794655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189115388	chr2:35794683-35794684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554667726	chr2:35794709-35794710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147100326	chr2:35794712-35794713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113562478	chr2:35794737-35794738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564910543	chr2:35794741-35794742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs143559868	chr2:35794751-35794752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530618603	chr2:35794771-35794772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544149196	chr2:35794779-35794780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116003909	chr2:35794784-35794785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2719091	chr2:35794787-35794788	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs548167905	chr2:35794824-35794825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566571147	chr2:35794826-35794827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181157641	chr2:35794843-35794844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs10167615	chr2:35794894-35794895	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570925335	chr2:35794978-35794979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538456160	chr2:35794990-35794991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556852768	chr2:35795005-35795006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369741341	chr2:35795021-35795022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184912309	chr2:35795054-35795055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78068100	chr2:35795060-35795061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188974629	chr2:35795081-35795082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563066528	chr2:35795096-35795097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs2719093	chr2:35795100-35795101	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs554602011	chr2:35795167-35795168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs180979736	chr2:35795187-35795188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187060536	chr2:35795198-35795199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs56712339	chr2:35800006-35800007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576589048	chr2:35800029-35800030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116991690	chr2:35800055-35800056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377598591	chr2:35800086-35800087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565402969	chr2:35800094-35800095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150833766	chr2:35800098-35800099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2580403	chr2:35800137-35800138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549330961	chr2:35800139-35800140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567822334	chr2:35800190-35800191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550450577	chr2:35800195-35800196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568782770	chr2:35800198-35800199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535816119	chr2:35800201-35800202	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548167513	chr2:35800208-35800209	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185473395	chr2:35800227-35800228	ZNF genes & repeats Enhancers	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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35794400-35795200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35800000-35800800	Enhancers	Pancreas	Pancrea
3	chr2:35800200-35800600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:35800800-35803200	Weak transcription	Pancreas	Pancrea
5	chr2:35802800-35803600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35803200-35803400	Enhancers	Pancreas	Pancrea
7	chr2:35803200-35803800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr2:35808000-35813400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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