Variant report

Variant	nsv515563
Chromosome Location	chr12:119985871-119991312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 208 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557488	chr12:119985871-119985872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533159171	chr12:119985915-119985916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186422470	chr12:119985944-119985945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151022705	chr12:119986001-119986002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550214998	chr12:119986012-119986013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563848279	chr12:119986014-119986015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532535477	chr12:119986020-119986021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189304459	chr12:119986034-119986035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546108380	chr12:119986062-119986063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566293563	chr12:119986063-119986064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs804447	chr12:119986082-119986083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs804448	chr12:119986134-119986135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568362359	chr12:119986171-119986172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537447931	chr12:119986193-119986194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2519547	chr12:119986214-119986215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180728236	chr12:119986232-119986233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568214693	chr12:119986280-119986281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539616650	chr12:119986336-119986337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552872110	chr12:119986338-119986339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573028298	chr12:119986345-119986346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143335132	chr12:119986346-119986347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555638278	chr12:119986362-119986363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574852147	chr12:119986370-119986371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543819894	chr12:119986387-119986388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200573079	chr12:119986414-119986415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60651826	chr12:119986433-119986434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398021309	chr12:119986435-119986436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111990640	chr12:119986445-119986446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186347480	chr12:119986466-119986467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540354971	chr12:119986467-119986468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117689479	chr12:119986475-119986476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528728020	chr12:119986477-119986478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548555839	chr12:119986572-119986573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568748432	chr12:119986574-119986575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530894359	chr12:119986601-119986602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551017630	chr12:119986644-119986645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564596150	chr12:119986664-119986665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146731190	chr12:119986670-119986671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140275046	chr12:119986677-119986678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373837267	chr12:119986695-119986696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553472477	chr12:119986704-119986705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11833508	chr12:119986714-119986715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190699263	chr12:119986717-119986718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555337624	chr12:119986722-119986723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150330356	chr12:119986726-119986727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533690979	chr12:119986734-119986735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575186084	chr12:119986746-119986747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75127857	chr12:119986809-119986810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182907056	chr12:119986819-119986820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371506729	chr12:119986830-119986831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119985600-119987800	Weak transcription	HSMMtube	muscle
2	chr12:119986800-119989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:119988400-119991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:119990800-119991800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:119991200-119993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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