Variant report

Variant	nsv557977
Chromosome Location	chr12:30224990-30241143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 502 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1948644	chr12:30224990-30224991	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569456190	chr12:30225018-30225019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532916948	chr12:30225080-30225081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150575807	chr12:30225108-30225109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57156887	chr12:30225110-30225111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533296866	chr12:30225111-30225112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551469844	chr12:30225219-30225220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540100843	chr12:30225275-30225276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184631648	chr12:30225302-30225303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36107873	chr12:30225389-30225390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140661564	chr12:30225446-30225447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573299975	chr12:30225454-30225455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534178593	chr12:30225487-30225488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189951671	chr12:30225542-30225543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75439336	chr12:30225579-30225580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544422188	chr12:30225612-30225613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565698875	chr12:30225622-30225623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562673887	chr12:30225642-30225643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577874597	chr12:30225657-30225658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55710329	chr12:30225731-30225732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115149356	chr12:30225766-30225767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150167349	chr12:30225800-30225801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138628674	chr12:30225835-30225836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180803913	chr12:30225924-30225925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560660916	chr12:30225927-30225928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186244122	chr12:30225936-30225937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141347708	chr12:30225960-30225961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2351204	chr12:30226004-30226005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539631928	chr12:30226014-30226015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376604156	chr12:30226063-30226064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567177027	chr12:30226083-30226084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537870935	chr12:30226116-30226117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144068841	chr12:30226121-30226122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552094810	chr12:30226139-30226140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567159336	chr12:30226188-30226189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74083123	chr12:30226254-30226255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555750607	chr12:30226258-30226259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386761591	chr12:30226362-30226363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76615167	chr12:30226364-30226365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189860745	chr12:30226384-30226385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139169287	chr12:30226394-30226395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143107133	chr12:30226452-30226453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116103528	chr12:30226453-30226454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118148462	chr12:30226457-30226458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571390219	chr12:30226458-30226459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144700809	chr12:30226492-30226493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148089510	chr12:30226548-30226549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560521511	chr12:30226623-30226624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201207927	chr12:30226686-30226687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531324290	chr12:30226688-30226689	Weak transcription	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30221200-30225600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:30223000-30234200	Weak transcription	Aorta	Aorta
3	chr12:30224800-30225400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:30225400-30228200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:30237200-30237800	Enhancers	Stomach Smooth Muscle	stomach
6	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:30239600-30240000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:30240000-30240400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:30240400-30240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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