Variant report

Variant	esv3386143
Chromosome Location	chr12:63933585-63937383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528867594	chr12:63933601-63933602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2257726	chr12:63933619-63933620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35110989	chr12:63933632-63933633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142829223	chr12:63933677-63933678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34256491	chr12:63933691-63933692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147393403	chr12:63933708-63933709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190001481	chr12:63933709-63933710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35224595	chr12:63933717-63933718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182583476	chr12:63933725-63933726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36060678	chr12:63933738-63933739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139768012	chr12:63933750-63933751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34674633	chr12:63933766-63933767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151271560	chr12:63933774-63933775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186496106	chr12:63933801-63933802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55892159	chr12:63933834-63933835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374785171	chr12:63933837-63933838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35941433	chr12:63933860-63933861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189898407	chr12:63933897-63933898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570756239	chr12:63933901-63933902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539964375	chr12:63933907-63933908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559684697	chr12:63933910-63933911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12296485	chr12:63933914-63933915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573347382	chr12:63933939-63933940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536070340	chr12:63933943-63933944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111859187	chr12:63933966-63933967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576009648	chr12:63933998-63933999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544574061	chr12:63934030-63934031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11175026	chr12:63934035-63934036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577552238	chr12:63934036-63934037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183200803	chr12:63934048-63934049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559841116	chr12:63934189-63934190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369747513	chr12:63934194-63934195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367893264	chr12:63934196-63934197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548776562	chr12:63934204-63934205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148515887	chr12:63934219-63934220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142795250	chr12:63934241-63934242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146590108	chr12:63934249-63934250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570852632	chr12:63934256-63934257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188908662	chr12:63934273-63934274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546938632	chr12:63934274-63934275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572233157	chr12:63934278-63934279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566978687	chr12:63934281-63934282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193063044	chr12:63934311-63934312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183313308	chr12:63934335-63934336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575895147	chr12:63934367-63934368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538562357	chr12:63934370-63934371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558148738	chr12:63934393-63934394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578176901	chr12:63934451-63934452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540974462	chr12:63934452-63934453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539867146	chr12:63934478-63934479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63932000-63938800	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links