Variant report

Variant	esv3448819
Chromosome Location	chr12:63934335-63936633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183313308	chr12:63934335-63934336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575895147	chr12:63934367-63934368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538562357	chr12:63934370-63934371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558148738	chr12:63934393-63934394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578176901	chr12:63934451-63934452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540974462	chr12:63934452-63934453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539867146	chr12:63934478-63934479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3907785	chr12:63934496-63934497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143801356	chr12:63934591-63934592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542311958	chr12:63934639-63934640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562384745	chr12:63934640-63934641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531391318	chr12:63934669-63934670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371012791	chr12:63934689-63934690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28634691	chr12:63934728-63934729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1588077	chr12:63934755-63934756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188712434	chr12:63934767-63934768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543437330	chr12:63934832-63934833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547016507	chr12:63934867-63934868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191635505	chr12:63934868-63934869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12298332	chr12:63934875-63934876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1707544	chr12:63934877-63934878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569502019	chr12:63934879-63934880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73138204	chr12:63934886-63934887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56106133	chr12:63934899-63934900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559529315	chr12:63934926-63934927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201282887	chr12:63934937-63934938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1707543	chr12:63934938-63934939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571858658	chr12:63934947-63934948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145395274	chr12:63934968-63934969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1707542	chr12:63935012-63935013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368360834	chr12:63935043-63935044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528616035	chr12:63935052-63935053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61934998	chr12:63935089-63935090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374850028	chr12:63935121-63935122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573293141	chr12:63935135-63935136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542348925	chr12:63935168-63935169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367950257	chr12:63935192-63935193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568770988	chr12:63935199-63935200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371674278	chr12:63935204-63935205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544885787	chr12:63935206-63935207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565044264	chr12:63935240-63935241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527633459	chr12:63935247-63935248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28488813	chr12:63935280-63935281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146898396	chr12:63935309-63935310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138968283	chr12:63935353-63935354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560504115	chr12:63935366-63935367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529281382	chr12:63935377-63935378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7973167	chr12:63935388-63935389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191593983	chr12:63935417-63935418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549372827	chr12:63935423-63935424	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

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