Variant report

Variant	nsv1010967
Chromosome Location	chr2:35761656-35784034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193093929	chr2:35764011-35764012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537494228	chr2:35764022-35764023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555564178	chr2:35764081-35764082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1439708	chr2:35764082-35764083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541240212	chr2:35764084-35764085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560005904	chr2:35764107-35764108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578240326	chr2:35764163-35764164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185854765	chr2:35764199-35764200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373348940	chr2:35764253-35764254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564021210	chr2:35764340-35764341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376725603	chr2:35764352-35764353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188784523	chr2:35764370-35764371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376523078	chr2:35764372-35764373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1439707	chr2:35764379-35764380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1439706	chr2:35764414-35764415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531710103	chr2:35764496-35764497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115234832	chr2:35764536-35764537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536956140	chr2:35764542-35764543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539294918	chr2:35764560-35764561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545623316	chr2:35764610-35764611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551252451	chr2:35764655-35764656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569650272	chr2:35764724-35764725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181566936	chr2:35764818-35764819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555755287	chr2:35764837-35764838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62148571	chr2:35764887-35764888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34254577	chr2:35764898-35764899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397720997	chr2:35764906-35764907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535130780	chr2:35764913-35764914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146236578	chr2:35764931-35764932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578217490	chr2:35764952-35764953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17016884	chr2:35764973-35764974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551694703	chr2:35764987-35764988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2719063	chr2:35765019-35765020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575912513	chr2:35765098-35765099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367887919	chr2:35765121-35765122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185362168	chr2:35765135-35765136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372662026	chr2:35765192-35765193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549009057	chr2:35765194-35765195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561732342	chr2:35765204-35765205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5830374	chr2:35765209-35765210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188617972	chr2:35765276-35765277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181300457	chr2:35765311-35765312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10584738	chr2:35765321-35765322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137992371	chr2:35765342-35765343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2580392	chr2:35765361-35765362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532945513	chr2:35765362-35765363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551191086	chr2:35765363-35765364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569823676	chr2:35765405-35765406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185855930	chr2:35765414-35765415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528906542	chr2:35765415-35765416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35764000-35764600	Enhancers	HMEC	breast
2	chr2:35764200-35764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:35764600-35766400	Weak transcription	HMEC	breast
4	chr2:35766400-35766800	Enhancers	HMEC	breast
5	chr2:35771000-35771600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:35781000-35781800	Enhancers	Pancreas	Pancrea

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