Variant report

Variant	nsv557978
Chromosome Location	chr12:30228188-30241143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 401 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7959715	chr12:30228188-30228189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545359230	chr12:30228227-30228228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527935545	chr12:30228240-30228241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2351205	chr12:30228243-30228244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531019370	chr12:30228275-30228276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561577313	chr12:30228320-30228321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372543313	chr12:30228326-30228327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11050634	chr12:30228358-30228359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs112349693	chr12:30228359-30228360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74083125	chr12:30228389-30228390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529247526	chr12:30228400-30228401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536850048	chr12:30228413-30228414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144921427	chr12:30228443-30228444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149038053	chr12:30228460-30228461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12579700	chr12:30228467-30228468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs142041937	chr12:30228471-30228472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547942944	chr12:30228514-30228515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34773150	chr12:30228522-30228523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113615465	chr12:30228531-30228532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569950552	chr12:30228550-30228551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191599364	chr12:30228570-30228571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182571383	chr12:30228609-30228610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187678423	chr12:30228641-30228642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576799001	chr12:30228657-30228658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61922873	chr12:30228672-30228673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200654062	chr12:30228674-30228675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553150847	chr12:30228687-30228688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574538122	chr12:30228688-30228689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543251416	chr12:30228697-30228698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561289915	chr12:30228732-30228733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576694903	chr12:30228743-30228744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543786174	chr12:30228756-30228757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532978382	chr12:30228771-30228772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12582309	chr12:30228788-30228789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1909176	chr12:30228809-30228810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559432980	chr12:30228829-30228830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371585215	chr12:30228901-30228902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184569098	chr12:30228902-30228903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569781129	chr12:30228933-30228934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537237003	chr12:30228965-30228966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187834350	chr12:30228967-30228968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570722160	chr12:30228984-30228985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534604677	chr12:30229007-30229008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569681870	chr12:30229032-30229033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566698113	chr12:30229064-30229065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535513226	chr12:30229076-30229077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73289515	chr12:30229121-30229122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576591625	chr12:30229187-30229188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117902104	chr12:30229188-30229189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572072769	chr12:30229191-30229192	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:9 , 50 per page) page: 1

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

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