Variant report

Variant	esv3480663
Chromosome Location	chr12:30371085-30372283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144467013	chr12:30371638-30371639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540980704	chr12:30371655-30371656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7976149	chr12:30371753-30371754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535302643	chr12:30371764-30371765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539767085	chr12:30371797-30371798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73078524	chr12:30371803-30371804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568860654	chr12:30371813-30371814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188398349	chr12:30371825-30371826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372623966	chr12:30371976-30371977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557727917	chr12:30371996-30371997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566465658	chr12:30372019-30372020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7979205	chr12:30372030-30372031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140417426	chr12:30372046-30372047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192838917	chr12:30372047-30372048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559469368	chr12:30372095-30372096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557585297	chr12:30372109-30372110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184843614	chr12:30372138-30372139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145527118	chr12:30372139-30372140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112180895	chr12:30372153-30372154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528505503	chr12:30372156-30372157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540252999	chr12:30372160-30372161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562240365	chr12:30372162-30372163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2351225	chr12:30372166-30372167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113914552	chr12:30372167-30372168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186683190	chr12:30372194-30372195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550405007	chr12:30372224-30372225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7315398	chr12:30372225-30372226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142533955	chr12:30372234-30372235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6487887	chr12:30372257-30372258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30371600-30372400	Enhancers	Osteobl	bone
2	chr12:30372200-30373400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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