Variant report

Variant	esv1254501
Chromosome Location	chr12:117085078-117085176
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	chr12:117082254..117085141-chr12:117093352..117095965,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147616722	chr12:117085079-117085080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149811678	chr12:117085081-117085082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373914330	chr12:117085110-117085111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562696598	chr12:117085148-117085149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71095578	chr12:117085176-117085177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117078000-117085800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:117078400-117085600	Weak transcription	Thymus	Thymus
3	chr12:117080600-117088000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117080600-117088000	Weak transcription	Adipose Nuclei	Adipose
5	chr12:117081200-117085400	Weak transcription	Dnd41	blood
6	chr12:117082400-117086200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:117083200-117088200	Weak transcription	Right Atrium	heart
8	chr12:117084000-117088000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:117084000-117088400	Weak transcription	Lung	lung
10	chr12:117084000-117093200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117084200-117088000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:117084400-117086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:117084600-117086000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:117084600-117086200	Weak transcription	Pancreas	Pancrea
15	chr12:117084600-117088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:117084800-117086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:117085000-117085800	Enhancers	Monocytes-CD14+_RO01746	blood

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