Variant report

Variant	nsv1001343
Chromosome Location	chr2:53004246-53033534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 587 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533599766	chr2:53004285-53004286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556132011	chr2:53004296-53004297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189253994	chr2:53004341-53004342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529614860	chr2:53004360-53004361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78192841	chr2:53004404-53004405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374396428	chr2:53004409-53004410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376010699	chr2:53004416-53004417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72806390	chr2:53004443-53004444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537023050	chr2:53004448-53004449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144216644	chr2:53004457-53004458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192655209	chr2:53004487-53004488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539290815	chr2:53004510-53004511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184327814	chr2:53004529-53004530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572656827	chr2:53004537-53004538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146143947	chr2:53004538-53004539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4671948	chr2:53004560-53004561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558959265	chr2:53004603-53004604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140190567	chr2:53004702-53004703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544576667	chr2:53004726-53004727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188958408	chr2:53004740-53004741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572023528	chr2:53004777-53004778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578141416	chr2:53004822-53004823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540682127	chr2:53004832-53004833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560676342	chr2:53004839-53004840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529474299	chr2:53004909-53004910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2218874	chr2:53004914-53004915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369143079	chr2:53004944-53004945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377002226	chr2:53004998-53004999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563175571	chr2:53005012-53005013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565636854	chr2:53005038-53005039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5831231	chr2:53005048-53005049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530458856	chr2:53005052-53005053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13422429	chr2:53005060-53005061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570261446	chr2:53005070-53005071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573769837	chr2:53005095-53005096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532869128	chr2:53005161-53005162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374063490	chr2:53005171-53005172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142383164	chr2:53005187-53005188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549611025	chr2:53005188-53005189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151301887	chr2:53005193-53005194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555406741	chr2:53005212-53005213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542702184	chr2:53005230-53005231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181133619	chr2:53005235-53005236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537897911	chr2:53005289-53005290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558184771	chr2:53005337-53005338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531178262	chr2:53005345-53005346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78044589	chr2:53005376-53005377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540744968	chr2:53005377-53005378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554279281	chr2:53005378-53005379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560683319	chr2:53005414-53005415	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	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
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine
2	chr2:53021800-53022200	Enhancers	Adipose Nuclei	Adipose
3	chr2:53024200-53025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53025200-53029200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:53027800-53049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:53029200-53029400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
7	chr2:53029200-53029800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:53029800-53033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:53031200-53031800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:53031400-53031800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:53033200-53034400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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