Variant report

Variant	nsv975467
Chromosome Location	chr12:30286939-30288970
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	chr12:29704988..29706078-chr12:30286679..30287383,3	MCF-7	breast:
2	chr12:29705003..29705553-chr12:30288330..30288940,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543942556	chr12:30286960-30286961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112529640	chr12:30286965-30286966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577151020	chr12:30286970-30286971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34770737	chr12:30286972-30286973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191923765	chr12:30286973-30286974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368909941	chr12:30286983-30286984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369986215	chr12:30286993-30286994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12818285	chr12:30286994-30286995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200216262	chr12:30286999-30287000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377091944	chr12:30287002-30287003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111600812	chr12:30287003-30287004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58752482	chr12:30287017-30287018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550608134	chr12:30287027-30287028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562533892	chr12:30287072-30287073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533286545	chr12:30287079-30287080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182840741	chr12:30287080-30287081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566928704	chr12:30287147-30287148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527508540	chr12:30287159-30287160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549121006	chr12:30287203-30287204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567567443	chr12:30287209-30287210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538132803	chr12:30287246-30287247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56387952	chr12:30287249-30287250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556233239	chr12:30287269-30287270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571245817	chr12:30287301-30287302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186657395	chr12:30287327-30287328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140239942	chr12:30287353-30287354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572068622	chr12:30287386-30287387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190699524	chr12:30287433-30287434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4931265	chr12:30287434-30287435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574036705	chr12:30287520-30287521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4931266	chr12:30287563-30287564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562572524	chr12:30287592-30287593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533175820	chr12:30287597-30287598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545350991	chr12:30287608-30287609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560391312	chr12:30287653-30287654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559888072	chr12:30287664-30287665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570451986	chr12:30287679-30287680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548949598	chr12:30287709-30287710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150061698	chr12:30287712-30287713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377763983	chr12:30287722-30287723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371172599	chr12:30287759-30287760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115033548	chr12:30287873-30287874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114720826	chr12:30287875-30287876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571534389	chr12:30287876-30287877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538265888	chr12:30287899-30287900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398055451	chr12:30287944-30287945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs58511482	chr12:30287945-30287946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11050673	chr12:30287977-30287978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565684232	chr12:30287997-30287998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560561734	chr12:30288040-30288041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30285800-30291200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:30288200-30289800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30288400-30289600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:30288600-30289400	Enhancers	Fetal Lung	lung
5	chr12:30288600-30289600	Enhancers	NHDF-Ad	bronchial
6	chr12:30288600-30289800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:30288600-30290000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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