Variant report

Variant	esv3367193
Chromosome Location	chr12:47396135-47398083
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	chr12:47392715..47394809-chr12:47397505..47399987,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553763160	chr12:47396147-47396148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556369954	chr12:47396148-47396149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565915891	chr12:47396178-47396179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57263012	chr12:47396179-47396180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373115646	chr12:47396215-47396216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199887564	chr12:47396264-47396265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114980328	chr12:47396273-47396274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555453698	chr12:47396308-47396309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142748096	chr12:47396384-47396385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114942407	chr12:47396396-47396397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115455860	chr12:47396426-47396427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370763058	chr12:47396432-47396433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146947039	chr12:47396477-47396478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543647483	chr12:47396510-47396511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563943134	chr12:47396519-47396520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576036924	chr12:47396536-47396537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541878376	chr12:47396615-47396616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374459203	chr12:47396637-47396638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78736299	chr12:47396762-47396763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547416932	chr12:47396787-47396788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564369598	chr12:47396808-47396809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533298525	chr12:47396845-47396846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549694157	chr12:47396939-47396940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569859582	chr12:47396941-47396942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535307563	chr12:47396946-47396947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549026232	chr12:47396948-47396949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376470078	chr12:47396951-47396952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370069703	chr12:47396955-47396956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184781058	chr12:47397026-47397027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2711703	chr12:47397039-47397040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370603631	chr12:47397065-47397066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201151470	chr12:47397105-47397106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375144196	chr12:47397106-47397107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534695408	chr12:47397108-47397109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57603478	chr12:47397115-47397116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557773681	chr12:47397134-47397135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578177550	chr12:47397188-47397189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2408647	chr12:47397276-47397277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187967896	chr12:47397290-47397291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574141179	chr12:47397299-47397300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180877163	chr12:47397320-47397321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80226096	chr12:47397388-47397389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572214861	chr12:47397392-47397393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368166089	chr12:47397420-47397421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527926170	chr12:47397424-47397425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535726658	chr12:47397483-47397484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533054245	chr12:47397486-47397487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76306286	chr12:47397524-47397525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563445924	chr12:47397543-47397544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529038588	chr12:47397545-47397546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	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
Myelofibrosis	22110671	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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47394800-47407800	Weak transcription	HSMM	muscle
2	chr12:47397800-47401200	Enhancers	Liver	Liver

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