Variant report

Variant	esv3502051
Chromosome Location	chr12:45130076-45131140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554658994	chr12:45130077-45130078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572805111	chr12:45130082-45130083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570049766	chr12:45130083-45130084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192875448	chr12:45130084-45130085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368487084	chr12:45130088-45130089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553256815	chr12:45130096-45130097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372738824	chr12:45130102-45130103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527627265	chr12:45130116-45130117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374690115	chr12:45130134-45130135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542901817	chr12:45130165-45130166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578111767	chr12:45130227-45130228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184279807	chr12:45130228-45130229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113667830	chr12:45130261-45130262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188667327	chr12:45130264-45130265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560978692	chr12:45130277-45130278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201086370	chr12:45130308-45130309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79145140	chr12:45130349-45130350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181031927	chr12:45130379-45130380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529297789	chr12:45130403-45130404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528546367	chr12:45130411-45130412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546787108	chr12:45130443-45130444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74079179	chr12:45130488-45130489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550526116	chr12:45130509-45130510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534927778	chr12:45130558-45130559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113572894	chr12:45130584-45130585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140374559	chr12:45130624-45130625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185363248	chr12:45130645-45130646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188997386	chr12:45130748-45130749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182483051	chr12:45130751-45130752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547849084	chr12:45130753-45130754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566578307	chr12:45130784-45130785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35490000	chr12:45130834-45130835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533683898	chr12:45130840-45130841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569031117	chr12:45130877-45130878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145648723	chr12:45130908-45130909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138182138	chr12:45130915-45130916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557695395	chr12:45130920-45130921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575961271	chr12:45130943-45130944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17575076	chr12:45131023-45131024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187036969	chr12:45131081-45131082	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45123400-45142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:45127000-45132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45127400-45134800	Weak transcription	Fetal Brain Female	brain
5	chr12:45127400-45136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45128000-45133000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45129400-45131000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45129400-45132800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:45129400-45133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:45130000-45133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:45131000-45134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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