Variant report

Variant	esv1818714
Chromosome Location	chr12:33300976-33307063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182212842	chr12:33300994-33300995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200154393	chr12:33300995-33300996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397688778	chr12:33300996-33300997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114859641	chr12:33301005-33301006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568986722	chr12:33301044-33301045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576641963	chr12:33301088-33301089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373344880	chr12:33301121-33301122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12426897	chr12:33301123-33301124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185231949	chr12:33301156-33301157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12426910	chr12:33301157-33301158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540161548	chr12:33301159-33301160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150352597	chr12:33301164-33301165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573845956	chr12:33301173-33301174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542817701	chr12:33301175-33301176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373544089	chr12:33301182-33301183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542252694	chr12:33301231-33301232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190046527	chr12:33301288-33301289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35178554	chr12:33301324-33301325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531327991	chr12:33301360-33301361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183383955	chr12:33301375-33301376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565349248	chr12:33301389-33301390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527837511	chr12:33301420-33301421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146472780	chr12:33301422-33301423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567989290	chr12:33301443-33301444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116979799	chr12:33301452-33301453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550224269	chr12:33301517-33301518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570036203	chr12:33301541-33301542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534161435	chr12:33301588-33301589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17555730	chr12:33301590-33301591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376464321	chr12:33301610-33301611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558967870	chr12:33301670-33301671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572446716	chr12:33301672-33301673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141138705	chr12:33301691-33301692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73311598	chr12:33301710-33301711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567888995	chr12:33301742-33301743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573907543	chr12:33301789-33301790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144847051	chr12:33301805-33301806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61927373	chr12:33301848-33301849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575592965	chr12:33301864-33301865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114186811	chr12:33301891-33301892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565038012	chr12:33302028-33302029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578119312	chr12:33302035-33302036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149252247	chr12:33302036-33302037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561300163	chr12:33302042-33302043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530437156	chr12:33302055-33302056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188269963	chr12:33302081-33302082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77889921	chr12:33302102-33302103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368529360	chr12:33302117-33302118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386761934	chr12:33302119-33302120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193172119	chr12:33302129-33302130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33300800-33304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33304200-33304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33305000-33306200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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