Variant report

Variant	esv3400583
Chromosome Location	chr12:7741210-7744058
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	chr12:7072040..7073715-chr12:7740097..7741867,2	MCF-7	breast:
2	chr12:7741041..7741545-chr12:7790979..7791656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207708	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000207713	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118078721	chr12:7741232-7741233	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs563587840	chr12:7741287-7741288	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73047198	chr12:7741347-7741348	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375280186	chr12:7741366-7741367	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs7959013	chr12:7741453-7741454	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571088490	chr12:7741479-7741480	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs557167706	chr12:7741542-7741543	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs78184649	chr12:7741552-7741553	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs372446284	chr12:7741568-7741569	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs186669978	chr12:7741578-7741579	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs12814827	chr12:7741656-7741657	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs12830098	chr12:7741658-7741659	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183839697	chr12:7741668-7741669	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs369850568	chr12:7741672-7741673	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs553428329	chr12:7741683-7741684	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs71067196	chr12:7741724-7741725	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs200638207	chr12:7741725-7741726	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs367995774	chr12:7741726-7741727	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs200462017	chr12:7741757-7741758	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs149654926	chr12:7741770-7741771	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs372980139	chr12:7741771-7741772	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200268614	chr12:7741789-7741790	Enhancers	Chromatin interactive region	4 gene(s)	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7740800-7741800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:7740800-7741800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:7741000-7741600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:7741000-7741800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:7741000-7741800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:7741000-7741800	Enhancers	Placenta	Placenta
7	chr12:7741200-7741600	Enhancers	Liver	Liver
8	chr12:7741200-7741600	Enhancers	Spleen	Spleen
9	chr12:7741200-7741800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:7741400-7741800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:7741400-7741800	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:7741400-7741800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:7741400-7741800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:7741600-7741800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:7741600-7741800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links