Variant report

Variant	nsv976723
Chromosome Location	chr12:66465896-66471495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66464819..66466975-chr12:66467023..66469422,2	MCF-7	breast:
2	chr12:66464819..66466975-chr12:66467023..66469422,2	MCF-7	breast:
3	chr12:66470991..66472905-chr12:66474513..66476422,2	K562	blood:

Extended variants
information (count: 193 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs551481961	chr12:66465897-66465898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368210800	chr12:66465903-66465904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182630425	chr12:66465913-66465914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372476687	chr12:66465938-66465939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548548461	chr12:66465940-66465941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533942066	chr12:66465991-66465992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188830078	chr12:66466013-66466014	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192377939	chr12:66466048-66466049	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536186858	chr12:66466139-66466140	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576006337	chr12:66466181-66466182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558972972	chr12:66466201-66466202	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528166015	chr12:66466202-66466203	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556388633	chr12:66466219-66466220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576177276	chr12:66466240-66466241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149178953	chr12:66466252-66466253	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564981764	chr12:66466284-66466285	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184610727	chr12:66466417-66466418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541125161	chr12:66466434-66466435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560751439	chr12:66466486-66466487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145113046	chr12:66466517-66466518	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549427254	chr12:66466537-66466538	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565034805	chr12:66466626-66466627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563171552	chr12:66466683-66466684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146860078	chr12:66466778-66466779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78211606	chr12:66466817-66466818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571500262	chr12:66466886-66466887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534052953	chr12:66466924-66466925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547851736	chr12:66466944-66466945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567564200	chr12:66466945-66466946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527809830	chr12:66467004-66467005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10784515	chr12:66467008-66467009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs10784516	chr12:66467020-66467021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs576363155	chr12:66467080-66467081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538925355	chr12:66467096-66467097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137875187	chr12:66467104-66467105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530130460	chr12:66467105-66467106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140726187	chr12:66467134-66467135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202243875	chr12:66467167-66467168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189062299	chr12:66467170-66467171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549119797	chr12:66467196-66467197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192055229	chr12:66467245-66467246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574373760	chr12:66467246-66467247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373427341	chr12:66467265-66467266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73315911	chr12:66467278-66467279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61923860	chr12:66467280-66467281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563050661	chr12:66467288-66467289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531924336	chr12:66467290-66467291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569186574	chr12:66467335-66467336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545273217	chr12:66467346-66467347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565169590	chr12:66467417-66467418	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66460800-66466000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:66464600-66467000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:66464800-66466400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:66464800-66466800	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:66464800-66466800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:66465000-66466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:66465200-66466000	Enhancers	Primary B cells from cord blood	blood
8	chr12:66465200-66466800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:66465200-66466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:66465400-66466600	Flanking Active TSS	GM12878-XiMat	blood
11	chr12:66466000-66466400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:66466000-66466400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:66466400-66466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:66466400-66467000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:66466600-66468800	Enhancers	GM12878-XiMat	blood
16	chr12:66468000-66468600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:66468000-66468800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:66468000-66468800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:66468000-66468800	Enhancers	HepG2	liver
20	chr12:66468000-66468800	Enhancers	Osteobl	bone
21	chr12:66468200-66468600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:66468400-66468800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:66468400-66468800	Enhancers	NH-A	brain
24	chr12:66468400-66468800	Enhancers	NHLF	lung
25	chr12:66468800-66469200	Weak transcription	HepG2	liver
26	chr12:66468800-66486000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:66469200-66472200	Enhancers	HepG2	liver

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