Variant report

Variant	esv3347157
Chromosome Location	chr12:106064314-106064801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106059166..106061278-chr12:106063588..106065428,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17037409	chr12:106064317-106064318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531136900	chr12:106064351-106064352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192421220	chr12:106064357-106064358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12306519	chr12:106064358-106064359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555170878	chr12:106064420-106064421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117169388	chr12:106064470-106064471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10746036	chr12:106064506-106064507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs76061990	chr12:106064533-106064534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147520227	chr12:106064537-106064538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367822975	chr12:106064541-106064542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11112648	chr12:106064566-106064567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376803945	chr12:106064651-106064652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531668118	chr12:106064714-106064715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548168346	chr12:106064741-106064742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184963248	chr12:106064785-106064786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106052400-106066400	Weak transcription	Aorta	Aorta
2	chr12:106061400-106066200	Weak transcription	Gastric	stomach
3	chr12:106062000-106065000	Weak transcription	Fetal Lung	lung
4	chr12:106063200-106066000	Weak transcription	Lung	lung
5	chr12:106064200-106064600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:106064200-106066600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:106064200-106067400	Enhancers	Fetal Muscle Leg	muscle
8	chr12:106064400-106064600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:106064400-106064600	Enhancers	Psoas Muscle	Psoas
10	chr12:106064400-106064600	Enhancers	Right Atrium	heart
11	chr12:106064400-106064800	Enhancers	NH-A	brain
12	chr12:106064400-106066600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:106064400-106066600	Enhancers	HSMMtube	muscle
14	chr12:106064400-106066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:106064600-106064800	Enhancers	Left Ventricle	heart
16	chr12:106064600-106065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:106064600-106066000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:106064600-106066000	Weak transcription	Psoas Muscle	Psoas
19	chr12:106064600-106066000	Weak transcription	Right Atrium	heart
20	chr12:106064800-106066000	Weak transcription	Left Ventricle	heart
21	chr12:106064800-106067400	Enhancers	Fetal Stomach	stomach

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