Variant report

Variant	esv1535292
Chromosome Location	chr12:10538599-10538600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10516092..10519058-chr12:10537972..10540241,2	K562	blood:
2	chr12:10537029..10538774-chr12:10541549..10544546,2	K562	blood:
3	chr12:10536735..10538905-chr12:10543028..10545121,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213809	chromatin interactions
ENSG00000245648	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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	rs398018396	chr12:10538600-10538601	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10527600-10538600	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:10533200-10541400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:10533600-10538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr12:10533800-10539000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:10533800-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:10534600-10544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:10534800-10542000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:10534800-10544400	Weak transcription	NHEK	skin
12	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:10536200-10542800	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:10537200-10542800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:10537400-10538800	Enhancers	Hela-S3	cervix
16	chr12:10537400-10543000	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:10537600-10538600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:10537600-10540000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:10537800-10538800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:10538000-10539600	Weak transcription	Primary B cells from cord blood	blood
21	chr12:10538000-10541200	Active TSS	Primary T cells from cord blood	blood
22	chr12:10538400-10538600	Enhancers	HSMM	muscle
23	chr12:10538400-10539400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:10538400-10542800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr12:10538400-10544400	Weak transcription	Osteobl	bone
26	chr12:10538400-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:10538400-10544800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:10538600-10538800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
29	chr12:10538600-10539400	Weak transcription	HSMM	muscle
30	chr12:10538600-10544400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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