Variant report

Variant	esv2012474
Chromosome Location	chr12:41852613-41853052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183488363	chr12:41852629-41852630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543384843	chr12:41852673-41852674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550291377	chr12:41852678-41852679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2608718	chr12:41852710-41852711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186847131	chr12:41852738-41852739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190111472	chr12:41852751-41852752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6144695	chr12:41852797-41852798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386762452	chr12:41852807-41852808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554167694	chr12:41852809-41852810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375888561	chr12:41852827-41852828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182186646	chr12:41852830-41852831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2405919	chr12:41852838-41852839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535807086	chr12:41852860-41852861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535021837	chr12:41852873-41852874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2405920	chr12:41852906-41852907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575021221	chr12:41852907-41852908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2405921	chr12:41852940-41852941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138135789	chr12:41852977-41852978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112003835	chr12:41852978-41852979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10161143	chr12:41853027-41853028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575823829	chr12:41853050-41853051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41852200-41853400	Enhancers	Brain Germinal Matrix	brain
4	chr12:41852200-41854000	Enhancers	Fetal Brain Female	brain
5	chr12:41852400-41853400	Enhancers	Colon Smooth Muscle	Colon
6	chr12:41852400-41853800	Enhancers	Fetal Lung	lung
7	chr12:41852400-41854000	Enhancers	Fetal Brain Male	brain
8	chr12:41852600-41852800	Enhancers	Stomach Smooth Muscle	stomach
9	chr12:41852600-41854800	Enhancers	Brain Angular Gyrus	brain
10	chr12:41852600-41855000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:41852800-41853800	Enhancers	Brain Substantia Nigra	brain
12	chr12:41852800-41855000	Enhancers	Brain Anterior Caudate	brain
13	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach

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