Variant report

Variant	esv3443251
Chromosome Location	chr12:119012269-119015667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112027380	chr12:119013404-119013405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572180836	chr12:119013405-119013406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75594541	chr12:119013408-119013409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200898846	chr12:119013436-119013437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562158851	chr12:119013522-119013523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552575719	chr12:119013534-119013535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550980611	chr12:119013550-119013551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182174111	chr12:119013588-119013589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186322024	chr12:119013597-119013598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562928959	chr12:119013614-119013615	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111205100	chr12:119013639-119013640	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183022937	chr12:119013661-119013662	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535656810	chr12:119013681-119013682	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201416457	chr12:119013695-119013696	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199545336	chr12:119013696-119013697	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200435571	chr12:119013697-119013698	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs59609067	chr12:119013698-119013699	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72162644	chr12:119013699-119013700	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs397809150	chr12:119013710-119013711	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543448961	chr12:119013742-119013743	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138763964	chr12:119013822-119013823	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568593983	chr12:119013827-119013828	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537576193	chr12:119013831-119013832	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111068566	chr12:119013844-119013845	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs577580749	chr12:119013852-119013853	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs55736618	chr12:119013885-119013886	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530817417	chr12:119013897-119013898	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549447238	chr12:119013947-119013948	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186685599	chr12:119014031-119014032	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542833088	chr12:119014048-119014049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562708285	chr12:119014085-119014086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575789131	chr12:119014100-119014101	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs116986066	chr12:119014116-119014117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550657034	chr12:119014118-119014119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533182377	chr12:119014134-119014135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547227089	chr12:119014156-119014157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374895644	chr12:119014185-119014186	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs553714663	chr12:119015403-119015404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573706453	chr12:119015422-119015423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542864188	chr12:119015424-119015425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371430097	chr12:119015426-119015427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559799931	chr12:119015429-119015430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562837131	chr12:119015430-119015431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532070745	chr12:119015435-119015436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545255710	chr12:119015488-119015489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565504662	chr12:119015489-119015490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147498099	chr12:119015490-119015491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73411669	chr12:119015493-119015494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567230929	chr12:119015570-119015571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200910260	chr12:119015595-119015596	Enhancers	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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119013400-119013800	Enhancers	Spleen	Spleen
2	chr12:119013600-119013800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:119013600-119014000	ZNF genes & repeats	Fetal Kidney	kidney
4	chr12:119013600-119014200	Active TSS	NHDF-Ad	bronchial
5	chr12:119015400-119021000	Enhancers	Fetal Brain Male	brain

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