Variant report

Variant	nsv582007
Chromosome Location	chr2:53685280-53687621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53687502..53690121-chr2:53692072..53694054,2	K562	blood:
2	chr2:53115077..53117448-chr2:53686034..53688851,2	MCF-7	breast:
3	chr2:53687389..53688064-chr2:53942616..53943230,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1879716	chr2:53685280-53685281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182737568	chr2:53685284-53685285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543337034	chr2:53685301-53685302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145927926	chr2:53685332-53685333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576327571	chr2:53685335-53685336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139471801	chr2:53685378-53685379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545300188	chr2:53685394-53685395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565192301	chr2:53685395-53685396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149737723	chr2:53685404-53685405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541173418	chr2:53685410-53685411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145605665	chr2:53685438-53685439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369638645	chr2:53685445-53685446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55748956	chr2:53685457-53685458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548985946	chr2:53685486-53685487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186132851	chr2:53685488-53685489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34166636	chr2:53685514-53685515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1879717	chr2:53685532-53685533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551366584	chr2:53685539-53685540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370662524	chr2:53685563-53685564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191810698	chr2:53685636-53685637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533871917	chr2:53685640-53685641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553952636	chr2:53685646-53685647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567847461	chr2:53685678-53685679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116808989	chr2:53685737-53685738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556543148	chr2:53685767-53685768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145224972	chr2:53685820-53685821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184121588	chr2:53685848-53685849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527468646	chr2:53685853-53685854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79553360	chr2:53685927-53685928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187394397	chr2:53685956-53685957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561074320	chr2:53685963-53685964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4671404	chr2:53685965-53685966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562454450	chr2:53685980-53685981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4671405	chr2:53685985-53685986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562601851	chr2:53685997-53685998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531639142	chr2:53685998-53685999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551435472	chr2:53686008-53686009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147626718	chr2:53686022-53686023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527321034	chr2:53686085-53686086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547496132	chr2:53686136-53686137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370697975	chr2:53686214-53686215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13386082	chr2:53686245-53686246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536403680	chr2:53686255-53686256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4671406	chr2:53686261-53686262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570199847	chr2:53686269-53686270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192288319	chr2:53686305-53686306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558856269	chr2:53686355-53686356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182588270	chr2:53686373-53686374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142381424	chr2:53686377-53686378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554609287	chr2:53686406-53686407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix
2	chr2:53687200-53688400	Enhancers	Hela-S3	cervix
3	chr2:53687400-53688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:53687600-53688400	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:53687600-53690000	Enhancers	Fetal Heart	heart

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