Variant report

Variant	nsv1040147
Chromosome Location	chr12:11487642-11504091
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	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:
2	chr12:11494392..11497234-chr12:11500928..11503308,2	K562	blood:

Extended variants
information (count: 692 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549728205	chr12:11487647-11487648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569243826	chr12:11487659-11487660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145083958	chr12:11487660-11487661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10845337	chr12:11487667-11487668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557572246	chr12:11487679-11487680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574136337	chr12:11487680-11487681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370509008	chr12:11487747-11487748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574058623	chr12:11487763-11487764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184502859	chr12:11487771-11487772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189436198	chr12:11487793-11487794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576452732	chr12:11487888-11487889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144153046	chr12:11487890-11487891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373714993	chr12:11487894-11487895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10017381	chr12:11487923-11487924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527510463	chr12:11487950-11487951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541191010	chr12:11487958-11487959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573287663	chr12:11488018-11488019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560846087	chr12:11488073-11488074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545378561	chr12:11488119-11488120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549405810	chr12:11488123-11488124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147774092	chr12:11488128-11488129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141195841	chr12:11488187-11488188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193126376	chr12:11488198-11488199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12424472	chr12:11488215-11488216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114731067	chr12:11488237-11488238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565379581	chr12:11488239-11488240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11054254	chr12:11488267-11488268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554329707	chr12:11488284-11488285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115176092	chr12:11488285-11488286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148014714	chr12:11488297-11488298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141035239	chr12:11488299-11488300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377255182	chr12:11488318-11488319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544365856	chr12:11488322-11488323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184861938	chr12:11488332-11488333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558914403	chr12:11488337-11488338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116976378	chr12:11488339-11488340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540902969	chr12:11488343-11488344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561127348	chr12:11488349-11488350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374693236	chr12:11488383-11488384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574492194	chr12:11488404-11488405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189338518	chr12:11488410-11488411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374476701	chr12:11488429-11488430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181678122	chr12:11488434-11488435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563528747	chr12:11488452-11488453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531994651	chr12:11488459-11488460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184368812	chr12:11488462-11488463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150255754	chr12:11488550-11488551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527980803	chr12:11488588-11488589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547724829	chr12:11488608-11488609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11888506	chr12:11488658-11488659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11479200-11493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:11493000-11493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:11493000-11493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:11494200-11496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:11496600-11496800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:11496800-11499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:11497200-11497800	Enhancers	HepG2	liver
9	chr12:11497800-11498600	Enhancers	Fetal Intestine Small	intestine
10	chr12:11498200-11498600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:11504000-11505000	Enhancers	HUVEC	blood vessel

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