Variant report

Variant	nsv963913
Chromosome Location	chr2:53375805-53380789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 257 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376856069	chr2:53375816-53375817	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12616144	chr2:53375820-53375821	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568613942	chr2:53375832-53375833	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79527634	chr2:53375857-53375858	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141479226	chr2:53375877-53375878	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12612804	chr2:53375897-53375898	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566032722	chr2:53375941-53375942	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150389765	chr2:53375945-53375946	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550728305	chr2:53375983-53375984	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548581051	chr2:53376004-53376005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386646160	chr2:53376010-53376011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11125473	chr2:53376012-53376013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553603057	chr2:53376017-53376018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189893690	chr2:53376059-53376060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577323505	chr2:53376092-53376093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183186942	chr2:53376110-53376111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10171983	chr2:53376125-53376126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374422976	chr2:53376150-53376151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571802863	chr2:53376155-53376156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188642973	chr2:53376195-53376196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560529007	chr2:53376219-53376220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574408175	chr2:53376258-53376259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367676077	chr2:53376326-53376327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192387029	chr2:53376328-53376329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555531082	chr2:53376385-53376386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199528151	chr2:53376420-53376421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532291498	chr2:53376421-53376422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574238689	chr2:53376425-53376426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552085299	chr2:53376471-53376472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559826186	chr2:53376531-53376532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368316069	chr2:53376564-53376565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11892805	chr2:53376578-53376579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12185582	chr2:53376615-53376616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143876124	chr2:53376633-53376634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531236970	chr2:53376668-53376669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551217131	chr2:53376669-53376670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375866772	chr2:53376687-53376688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543481584	chr2:53376689-53376690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147324856	chr2:53376740-53376741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11892855	chr2:53376742-53376743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs139379065	chr2:53376752-53376753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565469399	chr2:53376777-53376778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188706513	chr2:53376795-53376796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554165404	chr2:53376815-53376816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574047021	chr2:53376843-53376844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543360100	chr2:53376857-53376858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79661060	chr2:53376869-53376870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369835663	chr2:53376877-53376878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544658714	chr2:53376922-53376923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143194193	chr2:53376942-53376943	Weak transcription	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
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53375600-53376000	Enhancers	Fetal Lung	lung
2	chr2:53375800-53376000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:53376000-53383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:53380600-53381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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