Variant report

Variant	nsv524407
Chromosome Location	chr12:41290537-41291402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17128911	chr12:41290537-41290538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551294376	chr12:41290541-41290542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188160229	chr12:41290542-41290543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539623280	chr12:41290553-41290554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12582450	chr12:41290603-41290604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576627486	chr12:41290753-41290754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181785854	chr12:41290755-41290756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555828619	chr12:41290771-41290772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530374226	chr12:41290826-41290827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573965692	chr12:41290834-41290835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533695774	chr12:41290835-41290836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7300776	chr12:41290861-41290862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559995202	chr12:41290880-41290881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533417783	chr12:41290883-41290884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140899583	chr12:41290906-41290907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144858480	chr12:41290908-41290909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558997542	chr12:41290933-41290934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531331995	chr12:41290934-41290935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367753434	chr12:41290980-41290981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76033806	chr12:41290991-41290992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568004386	chr12:41291011-41291012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35582145	chr12:41291022-41291023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547031226	chr12:41291110-41291111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565976187	chr12:41291115-41291116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147534059	chr12:41291136-41291137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140241872	chr12:41291176-41291177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569847087	chr12:41291316-41291317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114404622	chr12:41291353-41291354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12372413	chr12:41291402-41291403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41288400-41294800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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