Variant report

Variant	nsv523387
Chromosome Location	chr12:67234973-67238401
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	chr12:67235225..67237663-chr12:67242475..67245104,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11176445	chr12:67234973-67234974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181498326	chr12:67234995-67234996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146864580	chr12:67235069-67235070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535762251	chr12:67235145-67235146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10506506	chr12:67235167-67235168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73331116	chr12:67235275-67235276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556444966	chr12:67235381-67235382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574679036	chr12:67235431-67235432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542143894	chr12:67235437-67235438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560167136	chr12:67235466-67235467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17247049	chr12:67235549-67235550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373094537	chr12:67235563-67235564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548790336	chr12:67235677-67235678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10437969	chr12:67235681-67235682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531646820	chr12:67235723-67235724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140748288	chr12:67235774-67235775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186323339	chr12:67235793-67235794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529430687	chr12:67235799-67235800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76344406	chr12:67235802-67235803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566211076	chr12:67235905-67235906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533796404	chr12:67235927-67235928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538688557	chr12:67235957-67235958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145786952	chr12:67236014-67236015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570461070	chr12:67236028-67236029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11176446	chr12:67236087-67236088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556281473	chr12:67236101-67236102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374079292	chr12:67236130-67236131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191269404	chr12:67236173-67236174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71452328	chr12:67236182-67236183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572207458	chr12:67236341-67236342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138442614	chr12:67236377-67236378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564186246	chr12:67236416-67236417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576018644	chr12:67236417-67236418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11176447	chr12:67236441-67236442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117983041	chr12:67236530-67236531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182318970	chr12:67236531-67236532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185205428	chr12:67236533-67236534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562525817	chr12:67236621-67236622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560003247	chr12:67236625-67236626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533503497	chr12:67236673-67236674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10437935	chr12:67236674-67236675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10437970	chr12:67236679-67236680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553299606	chr12:67236732-67236733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545898363	chr12:67236803-67236804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191096457	chr12:67236816-67236817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377181473	chr12:67236838-67236839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568127966	chr12:67236878-67236879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17182441	chr12:67236900-67236901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11834166	chr12:67236933-67236934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1921006	chr12:67237090-67237091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Glioblastoma multiforme	21569311	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67231400-67251200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:67233400-67235200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:67234200-67235000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:67234400-67235000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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