Variant report

Variant	esv3380863
Chromosome Location	chr12:44504335-44508633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549392743	chr12:44508001-44508002	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563533733	chr12:44508013-44508014	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151221244	chr12:44508016-44508017	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140459958	chr12:44508038-44508039	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567324121	chr12:44508051-44508052	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567531797	chr12:44508061-44508062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534335758	chr12:44508074-44508075	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370206619	chr12:44508083-44508084	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183257140	chr12:44508091-44508092	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571476747	chr12:44508109-44508110	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147032045	chr12:44508118-44508119	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112941859	chr12:44508147-44508148	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186565088	chr12:44508162-44508163	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569082122	chr12:44508164-44508165	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536404200	chr12:44508169-44508170	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112844634	chr12:44508177-44508178	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138259819	chr12:44508185-44508186	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190213036	chr12:44508222-44508223	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541095395	chr12:44508233-44508234	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142456127	chr12:44508242-44508243	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17094092	chr12:44508260-44508261	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545307891	chr12:44508273-44508274	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182423302	chr12:44508283-44508284	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17094097	chr12:44508290-44508291	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543170359	chr12:44508342-44508343	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186704879	chr12:44508383-44508384	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528164963	chr12:44508409-44508410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527742536	chr12:44508414-44508415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552580118	chr12:44508419-44508420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571211748	chr12:44508426-44508427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532104097	chr12:44508429-44508430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550896540	chr12:44508431-44508432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374704988	chr12:44508439-44508440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189738513	chr12:44508453-44508454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536486515	chr12:44508495-44508496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554728261	chr12:44508496-44508497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34160851	chr12:44508517-44508518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368545512	chr12:44508523-44508524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567701509	chr12:44508596-44508597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112506296	chr12:44508601-44508602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184118677	chr12:44508608-44508609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578229113	chr12:44508610-44508611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577620062	chr12:44508615-44508616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544975836	chr12:44508622-44508623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44508000-44508200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:44508000-44508400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:44508200-44508400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:44508200-44508600	Enhancers	Fetal Brain Female	brain
5	chr12:44508200-44509800	Enhancers	Fetal Brain Male	brain
6	chr12:44508600-44512200	Weak transcription	Fetal Brain Female	brain

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