Variant report

Variant	esv3328179
Chromosome Location	chr12:7805447-7805886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2080127	chr12:7805467-7805468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112046539	chr12:7805509-7805510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201808135	chr12:7805511-7805512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78510245	chr12:7805512-7805513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374067690	chr12:7805516-7805517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138302046	chr12:7805531-7805532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376768287	chr12:7805535-7805536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547285344	chr12:7805629-7805630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189158951	chr12:7805638-7805639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5796283	chr12:7805692-7805693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369728515	chr12:7805719-7805720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12422951	chr12:7805720-7805721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373437987	chr12:7805729-7805730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183088817	chr12:7805747-7805748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376504384	chr12:7805771-7805772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187059919	chr12:7805805-7805806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191789228	chr12:7805833-7805834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7798800-7815200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:7804000-7808200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:7805400-7808400	Weak transcription	Fetal Intestine Small	intestine

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