Variant report

Variant	esv15126
Chromosome Location	chr12:8697994-8698654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:8697837-8697994	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8697584..8700120-chr12:8760238..8761960,2	MCF-7	breast:
2	chr12:8696425..8698519-chr12:8700227..8702565,2	MCF-7	breast:

Variant related genes	Relation type
CLEC4E	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 76 )

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	rs146479254	chr12:8698016-8698017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530356171	chr12:8698051-8698052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10841871	chr12:8698091-8698092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190505883	chr12:8698101-8698102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73049988	chr12:8698116-8698117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550023617	chr12:8698171-8698172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115721077	chr12:8698175-8698176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12582824	chr12:8698239-8698240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs528165541	chr12:8698265-8698266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386760105	chr12:8698297-8698298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551372357	chr12:8698430-8698431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10770847	chr12:8698471-8698472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs182966309	chr12:8698535-8698536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34220296	chr12:8698566-8698567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397690519	chr12:8698567-8698568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8697400-8699000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:8697400-8699000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8697400-8701200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:8697600-8699000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:8697600-8699000	Weak transcription	Primary T cells from cord blood	blood

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