Variant report

Variant	esv3366452
Chromosome Location	chr12:84335671-84337719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114717866	chr12:84335688-84335689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189616482	chr12:84335709-84335710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567157332	chr12:84335727-84335728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577598387	chr12:84335735-84335736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529074992	chr12:84335787-84335788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144719085	chr12:84335824-84335825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74105127	chr12:84335843-84335844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76008322	chr12:84335866-84335867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73352054	chr12:84335893-84335894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182310599	chr12:84335919-84335920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188636726	chr12:84335980-84335981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192381227	chr12:84336010-84336011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148564061	chr12:84336018-84336019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540531853	chr12:84336047-84336048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143953036	chr12:84336123-84336124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530005779	chr12:84336126-84336127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12824754	chr12:84336131-84336132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183234235	chr12:84336167-84336168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553003691	chr12:84336174-84336175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531141633	chr12:84336188-84336189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188703053	chr12:84336204-84336205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537315528	chr12:84336206-84336207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372619237	chr12:84336213-84336214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147327401	chr12:84336221-84336222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148719745	chr12:84336288-84336289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67425550	chr12:84336297-84336298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141070065	chr12:84336304-84336305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116057531	chr12:84336361-84336362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556736777	chr12:84336371-84336372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12830391	chr12:84336384-84336385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535080151	chr12:84336388-84336389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557022683	chr12:84336389-84336390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12830408	chr12:84336399-84336400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568818763	chr12:84336416-84336417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539512445	chr12:84336451-84336452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575418325	chr12:84336456-84336457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192319592	chr12:84336458-84336459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374694638	chr12:84336494-84336495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375775260	chr12:84336512-84336513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573053999	chr12:84336518-84336519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540570314	chr12:84336524-84336525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184158614	chr12:84336534-84336535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114531752	chr12:84336556-84336557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144918412	chr12:84336584-84336585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369981539	chr12:84336588-84336589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542423231	chr12:84336638-84336639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111308960	chr12:84336674-84336675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545869188	chr12:84336759-84336760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191377255	chr12:84336769-84336770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564372537	chr12:84336773-84336774	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
Neurodevelopmental disorder	22521361	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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84335600-84339400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:84335600-84339400	Weak transcription	A549	lung
3	chr12:84337400-84337800	Enhancers	NHEK	skin
4	chr12:84337600-84338000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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