Variant report

Variant	esv3419852
Chromosome Location	chr12:87443671-87444819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147270112	chr12:87443708-87443709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184200616	chr12:87443722-87443723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12230862	chr12:87443750-87443751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568485901	chr12:87443882-87443883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539750834	chr12:87443883-87443884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553949100	chr12:87443903-87443904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558093255	chr12:87443909-87443910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189393518	chr12:87443917-87443918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192660467	chr12:87443919-87443920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12318261	chr12:87443921-87443922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11104252	chr12:87443923-87443924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565727635	chr12:87443925-87443926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368742568	chr12:87443934-87443935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574490318	chr12:87443953-87443954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79173105	chr12:87443959-87443960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543639749	chr12:87443977-87443978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556225364	chr12:87443993-87443994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563477750	chr12:87444008-87444009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139393701	chr12:87444009-87444010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7971422	chr12:87444015-87444016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184693704	chr12:87444021-87444022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528470363	chr12:87444023-87444024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548334421	chr12:87444024-87444025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35376028	chr12:87444028-87444029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564520475	chr12:87444040-87444041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373145064	chr12:87444047-87444048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558009244	chr12:87444049-87444050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576640820	chr12:87444102-87444103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201004852	chr12:87444103-87444104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10629495	chr12:87444104-87444105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386377259	chr12:87444107-87444108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571635387	chr12:87444108-87444109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201876341	chr12:87444109-87444110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555882392	chr12:87444111-87444112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71078960	chr12:87444122-87444123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112130097	chr12:87444123-87444124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368835228	chr12:87444146-87444147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71078961	chr12:87444149-87444150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66689713	chr12:87444151-87444152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66689714	chr12:87444152-87444153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11104253	chr12:87444153-87444154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570725410	chr12:87444155-87444156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143991440	chr12:87444177-87444178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71446995	chr12:87444178-87444179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376353091	chr12:87444253-87444254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12371748	chr12:87444291-87444292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373599017	chr12:87444363-87444364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188945028	chr12:87444381-87444382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73179855	chr12:87444427-87444428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140123172	chr12:87444431-87444432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87442000-87448400	Weak transcription	Fetal Brain Male	brain

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