Variant report

Variant	esv3495730
Chromosome Location	chr12:22248424-22252068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571059466	chr12:22248456-22248457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539150984	chr12:22248461-22248462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76276794	chr12:22248491-22248492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75800183	chr12:22248492-22248493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189065891	chr12:22248568-22248569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2900495	chr12:22248648-22248649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562378499	chr12:22248675-22248676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369328986	chr12:22248681-22248682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572029048	chr12:22248699-22248700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558400942	chr12:22248717-22248718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113205537	chr12:22248778-22248779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540952900	chr12:22248855-22248856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557649643	chr12:22248880-22248881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549365328	chr12:22248896-22248897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192382876	chr12:22248901-22248902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10770888	chr12:22248908-22248909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142335840	chr12:22248911-22248912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35343422	chr12:22248923-22248924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557685097	chr12:22248931-22248932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542266605	chr12:22248944-22248945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377359420	chr12:22249140-22249141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562095104	chr12:22249196-22249197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145930073	chr12:22249207-22249208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11046301	chr12:22249334-22249335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141025058	chr12:22249358-22249359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201526781	chr12:22249373-22249374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149943360	chr12:22249376-22249377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548829170	chr12:22249412-22249413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35040957	chr12:22249427-22249428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34469508	chr12:22249468-22249469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549571968	chr12:22249497-22249498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569751029	chr12:22249547-22249548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112115191	chr12:22249561-22249562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115782202	chr12:22249594-22249595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577230847	chr12:22249641-22249642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565368366	chr12:22249663-22249664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184619630	chr12:22249675-22249676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188988932	chr12:22249680-22249681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7969364	chr12:22249684-22249685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537259503	chr12:22249698-22249699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556347935	chr12:22249751-22249752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576584363	chr12:22249753-22249754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139825442	chr12:22249826-22249827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143222663	chr12:22249901-22249902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572520609	chr12:22249944-22249945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191893433	chr12:22249986-22249987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150748245	chr12:22249995-22249996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139143318	chr12:22250007-22250008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149944262	chr12:22250069-22250070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575442518	chr12:22250084-22250085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22246800-22249800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:22249200-22254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:22252000-22254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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