Variant report

Variant	nsv558804
Chromosome Location	chr12:48709423-48710563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9669444	chr12:48709423-48709424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191763207	chr12:48709448-48709449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55851988	chr12:48709479-48709480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375388313	chr12:48709504-48709505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143622833	chr12:48709520-48709521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183851506	chr12:48709611-48709612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542269614	chr12:48709725-48709726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367889377	chr12:48709772-48709773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554471749	chr12:48709822-48709823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574658570	chr12:48709823-48709824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540549880	chr12:48709849-48709850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74908778	chr12:48709851-48709852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146241293	chr12:48709853-48709854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545813832	chr12:48709861-48709862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76815645	chr12:48709949-48709950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148544191	chr12:48709953-48709954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373996107	chr12:48709962-48709963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs923398	chr12:48710019-48710020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554461352	chr12:48710044-48710045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540981286	chr12:48710096-48710097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527845347	chr12:48710165-48710166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188684574	chr12:48710166-48710167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150554673	chr12:48710176-48710177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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