Variant report

Variant	esv3388130
Chromosome Location	chr12:26243678-26244035
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	chr12:26240929..26244393-chr12:26265760..26268742,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530840078	chr12:26243716-26243717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375537904	chr12:26243737-26243738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555020068	chr12:26243747-26243748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576476006	chr12:26243788-26243789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4963647	chr12:26243826-26243827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148853091	chr12:26243860-26243861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79172810	chr12:26243907-26243908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371581757	chr12:26243945-26243946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75961615	chr12:26243985-26243986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35531772	chr12:26244014-26244015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201319003	chr12:26244017-26244018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398055421	chr12:26244021-26244022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26222800-26245800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:26231200-26244200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:26231400-26243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:26231400-26243800	Weak transcription	NHDF-Ad	bronchial
5	chr12:26231400-26244000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:26235200-26243800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:26235200-26243800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:26235400-26246000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:26242200-26243800	Weak transcription	Fetal Lung	lung
10	chr12:26242200-26245000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:26242200-26245000	Enhancers	Placenta	Placenta
12	chr12:26242400-26243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:26242400-26247200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:26242400-26247800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:26243600-26245000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:26243600-26245200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:26243800-26244200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:26243800-26244400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr12:26243800-26244400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:26243800-26244400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:26243800-26244400	Enhancers	NHDF-Ad	bronchial
22	chr12:26243800-26244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:26243800-26244600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:26243800-26244800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:26243800-26245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:26243800-26245000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:26243800-26245000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:26243800-26245200	Enhancers	NHEK	skin
29	chr12:26243800-26245800	Enhancers	HMEC	breast
30	chr12:26243800-26246400	Enhancers	Fetal Lung	lung
31	chr12:26244000-26244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:26244000-26244400	Enhancers	HSMMtube	muscle
33	chr12:26244000-26244400	Enhancers	NH-A	brain
34	chr12:26244000-26244600	Enhancers	HSMM	muscle

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