Variant report

Variant	esv3367246
Chromosome Location	chr12:43254299-43254759
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	chr12:43253347..43257570-chr12:43259632..43262617,4	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192747527	chr12:43254336-43254337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140615428	chr12:43254342-43254343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553216534	chr12:43254378-43254379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143732010	chr12:43254395-43254396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115648335	chr12:43254418-43254419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187613523	chr12:43254487-43254488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1813364	chr12:43254501-43254502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192520741	chr12:43254551-43254552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386762548	chr12:43254552-43254553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73132746	chr12:43254554-43254555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141959970	chr12:43254589-43254590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559975660	chr12:43254594-43254595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150662438	chr12:43254597-43254598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139365035	chr12:43254600-43254601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143269675	chr12:43254604-43254605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543499764	chr12:43254702-43254703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530446053	chr12:43254736-43254737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548634368	chr12:43254758-43254759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43252200-43254400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:43252200-43254600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:43252600-43254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:43252600-43254400	Enhancers	Fetal Stomach	stomach
5	chr12:43253000-43254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:43253800-43254400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:43253800-43254400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:43253800-43254600	Enhancers	HSMMtube	muscle
9	chr12:43254000-43255000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:43254000-43255600	Weak transcription	HSMM	muscle
11	chr12:43254200-43258800	Weak transcription	HMEC	breast
12	chr12:43254200-43262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:43254400-43258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:43254600-43257800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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