Variant report

Variant	nsv976039
Chromosome Location	chr12:63617812-63623733
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	chr12:63617360..63618250-chr8:143764719..143765546,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182831994	chr12:63617824-63617825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75864741	chr12:63617837-63617838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371799843	chr12:63617936-63617937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59735814	chr12:63617963-63617964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561578347	chr12:63617967-63617968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551362681	chr12:63617980-63617981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76909996	chr12:63618088-63618089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373937289	chr12:63618214-63618215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10784345	chr12:63618217-63618218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs577900053	chr12:63618235-63618236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551252115	chr12:63618255-63618256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534249072	chr12:63618261-63618262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35686546	chr12:63618309-63618310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553348177	chr12:63618321-63618322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149901758	chr12:63618342-63618343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562396251	chr12:63618346-63618347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576107062	chr12:63618397-63618398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544844837	chr12:63618407-63618408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145032763	chr12:63618508-63618509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555812494	chr12:63618518-63618519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112168115	chr12:63618540-63618541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75543298	chr12:63618636-63618637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560488207	chr12:63618674-63618675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529232309	chr12:63618684-63618685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185955990	chr12:63618707-63618708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569217816	chr12:63618732-63618733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538368788	chr12:63618734-63618735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149079510	chr12:63618770-63618771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536817519	chr12:63618776-63618777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571554188	chr12:63618797-63618798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534210399	chr12:63618868-63618869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536835837	chr12:63618882-63618883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574276240	chr12:63618929-63618930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535842626	chr12:63618953-63618954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147531267	chr12:63618982-63618983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59893888	chr12:63618987-63618988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4763071	chr12:63618999-63619000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143202610	chr12:63619062-63619063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35735755	chr12:63619100-63619101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11174874	chr12:63619101-63619102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192113110	chr12:63619112-63619113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183341451	chr12:63619123-63619124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565072662	chr12:63619150-63619151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146747945	chr12:63619151-63619152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541237345	chr12:63619207-63619208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77575961	chr12:63619281-63619282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187285084	chr12:63619300-63619301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549091924	chr12:63619307-63619308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562928179	chr12:63619375-63619376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141222806	chr12:63619378-63619379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63614200-63620200	Enhancers	Liver	Liver
2	chr12:63617000-63618000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:63617000-63618400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:63618000-63621400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:63620200-63621000	Flanking Active TSS	Liver	Liver
6	chr12:63621000-63621800	Enhancers	Liver	Liver
7	chr12:63621800-63622600	Weak transcription	Liver	Liver
8	chr12:63622600-63623000	ZNF genes & repeats	Liver	Liver

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