Variant report

Variant	nsv975610
Chromosome Location	chr12:86635438-86639126
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	chr12:86633057..86634931-chr12:86636880..86638760,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148260207	chr12:86635609-86635610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73396190	chr12:86635631-86635632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150815281	chr12:86635649-86635650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9651932	chr12:86635654-86635655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527412048	chr12:86635662-86635663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548924141	chr12:86635679-86635680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113616064	chr12:86635698-86635699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566927559	chr12:86635700-86635701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140000531	chr12:86635727-86635728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76533637	chr12:86635739-86635740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574739308	chr12:86635740-86635741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145426759	chr12:86635846-86635847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1493420	chr12:86635847-86635848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182284884	chr12:86635898-86635899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138364897	chr12:86635920-86635921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534034472	chr12:86635933-86635934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114322428	chr12:86635996-86635997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12318124	chr12:86636031-86636032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111769619	chr12:86636032-86636033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572821375	chr12:86636045-86636046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12423847	chr12:86636066-86636067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376771205	chr12:86636104-86636105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147308137	chr12:86636108-86636109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17013842	chr12:86636115-86636116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545156301	chr12:86636161-86636162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560100170	chr12:86636191-86636192	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86635600-86636200	Enhancers	Placenta Amnion	Placenta Amnion

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