Variant report

Variant	esv3340034
Chromosome Location	chr12:9349285-9351583
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	chr12:9344252..9346316-chr12:9347068..9349580,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201596411	chr12:9349370-9349371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11049396	chr12:9349371-9349372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397768323	chr12:9349379-9349380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74849269	chr12:9349404-9349405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60393674	chr12:9349487-9349488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564108104	chr12:9349488-9349489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113527825	chr12:9349511-9349512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144955003	chr12:9349555-9349556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371285264	chr12:9349563-9349564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115286532	chr12:9349566-9349567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200980115	chr12:9349574-9349575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369397771	chr12:9349582-9349583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533124374	chr12:9349594-9349595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373136258	chr12:9349597-9349598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147532348	chr12:9349598-9349599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550024183	chr12:9349599-9349600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570095281	chr12:9349622-9349623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369276769	chr12:9349680-9349681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145225152	chr12:9349689-9349690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59948620	chr12:9349710-9349711	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35213971	chr12:9349714-9349715	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146779918	chr12:9349717-9349718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140440443	chr12:9349718-9349719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139379566	chr12:9349735-9349736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57292480	chr12:9349955-9349956	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12823018	chr12:9350021-9350022	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs190462331	chr12:9350043-9350044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182177656	chr12:9350095-9350096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370618004	chr12:9350192-9350193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34970014	chr12:9350194-9350195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186885195	chr12:9350216-9350217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11049404	chr12:9350239-9350240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4012634	chr12:9350244-9350245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57401152	chr12:9350269-9350270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4012635	chr12:9350280-9350281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56185125	chr12:9350311-9350312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11049408	chr12:9350404-9350405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57546975	chr12:9350415-9350416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57132221	chr12:9350422-9350423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59541856	chr12:9350430-9350431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185668771	chr12:9350435-9350436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60634387	chr12:9350454-9350455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57824711	chr12:9350463-9350464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59901189	chr12:9350464-9350465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61473015	chr12:9350473-9350474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12315060	chr12:9350474-9350475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58747574	chr12:9350480-9350481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60073687	chr12:9350484-9350485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57844091	chr12:9350492-9350493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60600457	chr12:9350497-9350498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9340600-9353000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:9341800-9353200	Strong transcription	Liver	Liver
3	chr12:9345400-9351600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:9351200-9355200	Weak transcription	Primary T cells from cord blood	blood

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