Variant report

Variant	esv3406871
Chromosome Location	chr12:119052592-119053009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568759340	chr12:119052629-119052630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546774480	chr12:119052630-119052631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75738934	chr12:119052647-119052648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61945963	chr12:119052649-119052650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560378209	chr12:119052654-119052655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112960694	chr12:119052662-119052663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112575620	chr12:119052684-119052685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186374584	chr12:119052695-119052696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537015556	chr12:119052706-119052707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111383583	chr12:119052745-119052746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2947196	chr12:119052758-119052759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539736404	chr12:119052761-119052762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549219967	chr12:119052794-119052795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573337340	chr12:119052796-119052797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562576157	chr12:119052818-119052819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555137624	chr12:119052867-119052868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139224157	chr12:119052912-119052913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34765200	chr12:119052933-119052934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375667755	chr12:119052934-119052935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55743033	chr12:119052957-119052958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119049000-119056400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:119049400-119059800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:119049800-119055000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:119051800-119055200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119052200-119055600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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