Variant report

Variant	nsv829408
Chromosome Location	chr2:53292340-53293053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547054147	chr2:53292353-53292354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573916615	chr2:53292378-53292379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564016375	chr2:53292411-53292412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560429969	chr2:53292490-53292491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368911985	chr2:53292491-53292492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529392917	chr2:53292493-53292494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548925957	chr2:53292519-53292520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568926955	chr2:53292547-53292548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145728716	chr2:53292550-53292551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551687860	chr2:53292569-53292570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17189147	chr2:53292581-53292582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534169869	chr2:53292583-53292584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553028573	chr2:53292603-53292604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184680735	chr2:53292628-53292629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554503930	chr2:53292636-53292637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375699226	chr2:53292642-53292643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546373671	chr2:53292660-53292661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561454414	chr2:53292706-53292707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116109725	chr2:53292711-53292712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544495635	chr2:53292731-53292732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557801336	chr2:53292737-53292738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577757549	chr2:53292765-53292766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540008397	chr2:53292795-53292796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560306234	chr2:53292800-53292801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530583547	chr2:53292803-53292804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72797218	chr2:53292858-53292859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188926080	chr2:53292891-53292892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193272106	chr2:53292950-53292951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138682185	chr2:53292975-53292976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551651405	chr2:53292983-53292984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571891381	chr2:53292992-53292993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527987844	chr2:53293009-53293010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547631664	chr2:53293023-53293024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567861001	chr2:53293045-53293046	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53286000-53294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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