Variant report

Variant	esv1522561
Chromosome Location	chr12:105369073-105369081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105367392..105369569-chr12:105378392..105380770,2	MCF-7	breast:
2	chr12:105350976..105355078-chr12:105366279..105369986,4	MCF-7	breast:
3	chr12:105368926..105370513-chr12:105372160..105373896,2	MCF-7	breast:
4	chr12:105368507..105370397-chr12:105372355..105374469,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	chromatin interactions
ENSG00000136052	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71069781	chr12:105369074-105369075	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105368000-105370800	Enhancers	HMEC	breast
2	chr12:105368000-105371800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:105368000-105371800	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:105368200-105370000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:105368200-105370200	Enhancers	Hela-S3	cervix
6	chr12:105368200-105372000	Enhancers	Primary B cells from cord blood	blood
7	chr12:105368400-105369800	Enhancers	Osteobl	bone
8	chr12:105368400-105370200	Enhancers	NHDF-Ad	bronchial
9	chr12:105368400-105370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:105368400-105370800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:105368600-105370000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:105368600-105370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:105368600-105370200	Enhancers	HSMM	muscle
14	chr12:105368600-105370400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:105368600-105370600	Weak transcription	Placenta	Placenta
16	chr12:105368800-105369400	Weak transcription	NHLF	lung
17	chr12:105368800-105369600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:105368800-105369800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:105368800-105370400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105368800-105370400	Enhancers	NHEK	skin
21	chr12:105369000-105370000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:105369000-105371200	Enhancers	GM12878-XiMat	blood
23	chr12:105369000-105371600	Enhancers	Monocytes-CD14+_RO01746	blood

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