Variant report

Variant	esv3375737
Chromosome Location	chr12:117741490-117744384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367869227	chr12:117741532-117741533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117820442	chr12:117741544-117741545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199499478	chr12:117741568-117741569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74352096	chr12:117741584-117741585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540130829	chr12:117741614-117741615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76386723	chr12:117741665-117741666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188232135	chr12:117741715-117741716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562620201	chr12:117741749-117741750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531425139	chr12:117741790-117741791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545056117	chr12:117741812-117741813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564851424	chr12:117741818-117741819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181050002	chr12:117741838-117741839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547737404	chr12:117741839-117741840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142739035	chr12:117741843-117741844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530184677	chr12:117741845-117741846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146101640	chr12:117741849-117741850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569852803	chr12:117741850-117741851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186432338	chr12:117741866-117741867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372568723	chr12:117741880-117741881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558552626	chr12:117741892-117741893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376952308	chr12:117741893-117741894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7486002	chr12:117741915-117741916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553736614	chr12:117741921-117741922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573876858	chr12:117741925-117741926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143425127	chr12:117741930-117741931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556377310	chr12:117741946-117741947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548727712	chr12:117741976-117741977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71444616	chr12:117741977-117741978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377546228	chr12:117741981-117741982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545095784	chr12:117741986-117741987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564887530	chr12:117741991-117741992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527249300	chr12:117742006-117742007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568652694	chr12:117742010-117742011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541710784	chr12:117742038-117742039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561468549	chr12:117742058-117742059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77516025	chr12:117742064-117742065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549992827	chr12:117742082-117742083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569889500	chr12:117742351-117742352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73405451	chr12:117742361-117742362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552214504	chr12:117742367-117742368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145566330	chr12:117742447-117742448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534756280	chr12:117742450-117742451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547907620	chr12:117742453-117742454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554939855	chr12:117742485-117742486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567483174	chr12:117742517-117742518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536528924	chr12:117742528-117742529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556414045	chr12:117742571-117742572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576269770	chr12:117742592-117742593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538745316	chr12:117742621-117742622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558320476	chr12:117742634-117742635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117697200-117746200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117728000-117771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:117732600-117747000	Weak transcription	NHEK	skin
4	chr12:117735000-117748000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:117739800-117771400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:117740000-117756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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