Variant report

Variant	esv33254
Chromosome Location	chr12:30504075-30509365
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	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138614127	chr12:30504080-30504081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12582064	chr12:30504100-30504101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533736779	chr12:30504110-30504111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555581309	chr12:30504139-30504140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573630550	chr12:30504147-30504148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536191857	chr12:30504172-30504173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12582079	chr12:30504206-30504207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148876883	chr12:30504240-30504241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193026660	chr12:30504258-30504259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546039382	chr12:30504289-30504290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143528192	chr12:30504305-30504306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528828364	chr12:30504324-30504325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs354130	chr12:30504377-30504378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs67476119	chr12:30504389-30504390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537465806	chr12:30504404-30504405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562342133	chr12:30504413-30504414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558648301	chr12:30504450-30504451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529336898	chr12:30504459-30504460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35400050	chr12:30504463-30504464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551119664	chr12:30504474-30504475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550948138	chr12:30504500-30504501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569230011	chr12:30504585-30504586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533376990	chr12:30504589-30504590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551837279	chr12:30504596-30504597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148328614	chr12:30504605-30504606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534118853	chr12:30504617-30504618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555253946	chr12:30504650-30504651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567468564	chr12:30504662-30504663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11050854	chr12:30504736-30504737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555842197	chr12:30504763-30504764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368904872	chr12:30504774-30504775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577175704	chr12:30504775-30504776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs354129	chr12:30504785-30504786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553380841	chr12:30504790-30504791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577427044	chr12:30504830-30504831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11050855	chr12:30504840-30504841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182883223	chr12:30504842-30504843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11050856	chr12:30504848-30504849	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529496170	chr12:30504888-30504889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573925271	chr12:30504892-30504893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11050857	chr12:30504910-30504911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542194424	chr12:30504929-30504930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72414102	chr12:30504970-30504971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75186774	chr12:30504972-30504973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533510092	chr12:30504988-30504989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75684793	chr12:30505022-30505023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560566418	chr12:30505026-30505027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527555706	chr12:30505030-30505031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376488961	chr12:30505044-30505045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549280611	chr12:30505045-30505046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
2	chr12:30503800-30505200	Enhancers	Liver	Liver
3	chr12:30508200-30508600	Enhancers	Placenta	Placenta
4	chr12:30509000-30509800	Enhancers	Fetal Lung	lung

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