Variant report

Variant	esv3345697
Chromosome Location	chr12:8227494-8227875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8220893..8223462-chr12:8227865..8229975,2	K562	blood:
2	chr12:8226927..8232020-chr12:8232319..8236859,8	K562	blood:
3	chr12:8180414..8183202-chr12:8226426..8230591,4	K562	blood:

Variant related genes	Relation type
ENSG00000089818	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563020803	chr12:8227526-8227527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116005275	chr12:8227535-8227536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150417414	chr12:8227557-8227558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138232397	chr12:8227564-8227565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116309264	chr12:8227589-8227590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376585096	chr12:8227677-8227678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531819545	chr12:8227755-8227756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368003784	chr12:8227768-8227769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139003250	chr12:8227774-8227775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528308839	chr12:8227797-8227798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115630117	chr12:8227800-8227801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs190972745	chr12:8227807-8227808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12319208	chr12:8227859-8227860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8208600-8233800	Weak transcription	Aorta	Aorta
2	chr12:8219800-8233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:8223400-8231400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:8223400-8231800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:8226000-8227800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:8226200-8228200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:8226200-8228400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:8227200-8229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:8227800-8231000	Enhancers	Primary neutrophils fromperipheralblood	blood

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