Variant report

Variant	esv3432476
Chromosome Location	chr12:40614375-40614618
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	chr12:40611277..40614132-chr12:40614284..40617171,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544235875	chr12:40614400-40614401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76904798	chr12:40614434-40614435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance disease
3	rs150994894	chr12:40614436-40614437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185010308	chr12:40614442-40614443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560443115	chr12:40614443-40614444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527878686	chr12:40614489-40614490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113755218	chr12:40614559-40614560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552777782	chr12:40614562-40614563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199541433	chr12:40614563-40614564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10878224	chr12:40614601-40614602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574457921	chr12:40614617-40614618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40610800-40616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:40611000-40615600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:40611000-40618000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40611200-40615600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:40611200-40617400	Weak transcription	A549	lung
6	chr12:40611400-40615200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:40611400-40615400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:40612800-40614600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:40613600-40615600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:40614000-40614400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:40614400-40615200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:40614600-40615400	Enhancers	Primary B cells from cord blood	blood

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