Variant report

Variant	nsv961315
Chromosome Location	chr2:53143712-53147722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373666372	chr2:53143734-53143735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78199961	chr2:53143736-53143737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141978853	chr2:53143746-53143747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557346440	chr2:53143759-53143760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572252725	chr2:53143762-53143763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17043816	chr2:53143765-53143766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560948075	chr2:53143790-53143791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114041038	chr2:53143797-53143798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550281701	chr2:53143853-53143854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17039478	chr2:53143884-53143885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532545868	chr2:53143887-53143888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552289832	chr2:53143903-53143904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183564014	chr2:53143932-53143933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528794604	chr2:53143991-53143992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188033401	chr2:53144006-53144007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568295000	chr2:53144007-53144008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146379757	chr2:53144010-53144011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555832251	chr2:53144070-53144071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556567535	chr2:53144072-53144073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569460790	chr2:53144074-53144075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377632851	chr2:53144075-53144076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573764218	chr2:53144085-53144086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62140286	chr2:53144088-53144089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558277794	chr2:53144122-53144123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56172907	chr2:53144141-53144142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540946039	chr2:53144175-53144176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138484550	chr2:53144208-53144209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180908080	chr2:53144212-53144213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59066200	chr2:53144287-53144288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563723533	chr2:53144298-53144299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72793434	chr2:53144305-53144306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372243832	chr2:53144318-53144319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565281245	chr2:53144334-53144335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185517468	chr2:53144349-53144350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554754213	chr2:53144360-53144361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559507073	chr2:53144441-53144442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113168956	chr2:53144450-53144451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190386137	chr2:53144466-53144467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75833283	chr2:53144492-53144493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531008425	chr2:53144498-53144499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550765660	chr2:53144503-53144504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542336586	chr2:53144506-53144507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562124751	chr2:53144553-53144554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569371959	chr2:53144584-53144585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538370345	chr2:53144667-53144668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181864231	chr2:53144668-53144669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75968882	chr2:53144700-53144701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75788396	chr2:53144706-53144707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554898604	chr2:53144708-53144709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144335507	chr2:53144751-53144752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53109400-53145600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:53144200-53144400	Enhancers	Fetal Intestine Large	intestine
3	chr2:53144200-53144400	Enhancers	Hela-S3	cervix
4	chr2:53144400-53145400	Weak transcription	Hela-S3	cervix
5	chr2:53145400-53146000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:53145400-53147000	Enhancers	Hela-S3	cervix
7	chr2:53145400-53147200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:53145400-53147200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:53145600-53146200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:53145600-53146400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:53145600-53147200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:53146400-53147200	Enhancers	Fetal Intestine Small	intestine
13	chr2:53146400-53148000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:53146400-53160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:53146800-53147000	Enhancers	Fetal Intestine Large	intestine
16	chr2:53147000-53147600	Enhancers	Stomach Mucosa	stomach

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