Variant report

Variant	nsv961779
Chromosome Location	chr2:57993158-57993780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541299267	chr2:57993184-57993185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184194449	chr2:57993230-57993231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533477243	chr2:57993327-57993328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532248256	chr2:57993331-57993332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190241011	chr2:57993345-57993346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531255683	chr2:57993354-57993355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181979905	chr2:57993367-57993368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567854481	chr2:57993403-57993404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535622266	chr2:57993456-57993457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547296977	chr2:57993492-57993493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565932041	chr2:57993511-57993512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371619195	chr2:57993517-57993518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539362022	chr2:57993550-57993551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185759945	chr2:57993553-57993554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12990792	chr2:57993568-57993569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537484818	chr2:57993633-57993634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10496078	chr2:57993643-57993644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377315653	chr2:57993652-57993653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115475327	chr2:57993668-57993669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541584646	chr2:57993681-57993682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189117120	chr2:57993682-57993683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180982016	chr2:57993707-57993708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57987400-58009800	Weak transcription	Pancreas	Pancrea
2	chr2:57987800-57994600	Weak transcription	Thymus	Thymus

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