Variant report

Variant	nsv8944
Chromosome Location	chr12:33458026-33459581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112788106	chr12:33458027-33458028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574261876	chr12:33458063-33458064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142178300	chr12:33458142-33458143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112896835	chr12:33458147-33458148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111648224	chr12:33458158-33458159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556137994	chr12:33458162-33458163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576133061	chr12:33458233-33458234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10844540	chr12:33458281-33458282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192279245	chr12:33458287-33458288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577736333	chr12:33458322-33458323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145909831	chr12:33458323-33458324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561552181	chr12:33458360-33458361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569012061	chr12:33458419-33458420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560227766	chr12:33458534-33458535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11052606	chr12:33458537-33458538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184620314	chr12:33458568-33458569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140369557	chr12:33458623-33458624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189487669	chr12:33458627-33458628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539546279	chr12:33458634-33458635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150372725	chr12:33458655-33458656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557838646	chr12:33458678-33458679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13377954	chr12:33458754-33458755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13377955	chr12:33458768-33458769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534165502	chr12:33458809-33458810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149454668	chr12:33458837-33458838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181485692	chr12:33458845-33458846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73308127	chr12:33458850-33458851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556148504	chr12:33458862-33458863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575994184	chr12:33458870-33458871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538768929	chr12:33458875-33458876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558817512	chr12:33458899-33458900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139504320	chr12:33458901-33458902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369806932	chr12:33458912-33458913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202050508	chr12:33458913-33458914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200498104	chr12:33458915-33458916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61929592	chr12:33458919-33458920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184408105	chr12:33458941-33458942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59451158	chr12:33458947-33458948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79848612	chr12:33458955-33458956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572491779	chr12:33458978-33458979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113260189	chr12:33459023-33459024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142975507	chr12:33459024-33459025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573991852	chr12:33459050-33459051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189118903	chr12:33459056-33459057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78510469	chr12:33459068-33459069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181781602	chr12:33459093-33459094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531358764	chr12:33459095-33459096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545008851	chr12:33459096-33459097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564873635	chr12:33459136-33459137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372617638	chr12:33459138-33459139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33449400-33459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33459000-33459800	Enhancers	Ovary	ovary
3	chr12:33459400-33459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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