Variant report

Variant	nsv973010
Chromosome Location	chr12:7719010-7720101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530482778	chr12:7719018-7719019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4883289	chr12:7719031-7719032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189364463	chr12:7719063-7719064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116130369	chr12:7719094-7719095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4883290	chr12:7719159-7719160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78043143	chr12:7719196-7719197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34043712	chr12:7719207-7719208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182412309	chr12:7719233-7719234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139176943	chr12:7719240-7719241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149957598	chr12:7719324-7719325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186583743	chr12:7719347-7719348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61939662	chr12:7719395-7719396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551695046	chr12:7719449-7719450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10083087	chr12:7719502-7719503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117161451	chr12:7719516-7719517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34828434	chr12:7719615-7719616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11608819	chr12:7719616-7719617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368864160	chr12:7719681-7719682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191801357	chr12:7719799-7719800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17198726	chr12:7719840-7719841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144700188	chr12:7719842-7719843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572407630	chr12:7719878-7719879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148959771	chr12:7719952-7719953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373735747	chr12:7720030-7720031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142757480	chr12:7720034-7720035	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	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
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7719000-7720200	Enhancers	Placenta	Placenta
2	chr12:7719400-7720000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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