Variant report

Variant	esv3377301
Chromosome Location	chr12:119901119-119903317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119896737..119898402-chr12:119901770..119903919,2	MCF-7	breast:
2	chr12:119894048..119897189-chr12:119897417..119901557,3	MCF-7	breast:
3	chr12:119901170..119903751-chr12:119912148..119914468,2	MCF-7	breast:
4	chr12:119900036..119902719-chr12:119904241..119906151,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560111030	chr12:119901135-119901136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555416543	chr12:119901176-119901177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35467043	chr12:119901203-119901204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529275965	chr12:119901209-119901210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75504257	chr12:119901224-119901225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571978562	chr12:119901260-119901261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373698814	chr12:119901342-119901343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189849684	chr12:119901368-119901369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531377349	chr12:119901377-119901378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181119688	chr12:119901397-119901398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564761092	chr12:119901406-119901407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186464559	chr12:119901410-119901411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547762533	chr12:119901419-119901420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs120823	chr12:119901424-119901425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs373916916	chr12:119901436-119901437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555953820	chr12:119901443-119901444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188338176	chr12:119901444-119901445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538011713	chr12:119901478-119901479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180762220	chr12:119901541-119901542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577860839	chr12:119901588-119901589	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119900800-119901400	Enhancers	Left Ventricle	heart
2	chr12:119901000-119901600	Enhancers	Pancreas	Pancrea
3	chr12:119901000-119901600	Enhancers	Right Atrium	heart
4	chr12:119901200-119901600	Enhancers	Spleen	Spleen

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