Variant report

Variant	esv3492918
Chromosome Location	chr12:117978903-117979255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

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	rs113040601	chr12:117978966-117978967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188475312	chr12:117978969-117978970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111794091	chr12:117979031-117979032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113170998	chr12:117979052-117979053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34083235	chr12:117979055-117979056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112582825	chr12:117979057-117979058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4766857	chr12:117979080-117979081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551152361	chr12:117979089-117979090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570959166	chr12:117979099-117979100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4766858	chr12:117979101-117979102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553370072	chr12:117979138-117979139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138346593	chr12:117979145-117979146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76381000	chr12:117979156-117979157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113507392	chr12:117979160-117979161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554464022	chr12:117979162-117979163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574355681	chr12:117979183-117979184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192920816	chr12:117979189-117979190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4766859	chr12:117979203-117979204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561720571	chr12:117979207-117979208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77292593	chr12:117979248-117979249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117957000-117995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:117963600-117979200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:117965200-117995800	Weak transcription	Pancreas	Pancrea
5	chr12:117970800-117981600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:117975000-118018200	Weak transcription	HUVEC	blood vessel

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