Variant report

Variant	esv3329322
Chromosome Location	chr12:20930526-20937024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 74 )

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	rs532941675	chr12:20931429-20931430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188704675	chr12:20931432-20931433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553090986	chr12:20931460-20931461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371660953	chr12:20931492-20931493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181127486	chr12:20931497-20931498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549267901	chr12:20931503-20931504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11494694	chr12:20931540-20931541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183869996	chr12:20931541-20931542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528650713	chr12:20931560-20931561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551448525	chr12:20931603-20931604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10841639	chr12:20931626-20931627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188386869	chr12:20931658-20931659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543249144	chr12:20931689-20931690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34467576	chr12:20931729-20931730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397757211	chr12:20931735-20931736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556044701	chr12:20931764-20931765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569811380	chr12:20931771-20931772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549622142	chr12:20931781-20931782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535732651	chr12:20931787-20931788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180802266	chr12:20931827-20931828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373541704	chr12:20931839-20931840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187634296	chr12:20931855-20931856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11537388	chr12:20931915-20931916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557852813	chr12:20931923-20931924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577732594	chr12:20931924-20931925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543395577	chr12:20931932-20931933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191954482	chr12:20931979-20931980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574291749	chr12:20932012-20932013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141923549	chr12:20932039-20932040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559722009	chr12:20932047-20932048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75847994	chr12:20932079-20932080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181932342	chr12:20932089-20932090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532976161	chr12:20932115-20932116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564993248	chr12:20932132-20932133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369635353	chr12:20932172-20932173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550602195	chr12:20932174-20932175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115286966	chr12:20932175-20932176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151154733	chr12:20932213-20932214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185730366	chr12:20932222-20932223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565751247	chr12:20932231-20932232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190196375	chr12:20932287-20932288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557888005	chr12:20932300-20932301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12311665	chr12:20932321-20932322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182635124	chr12:20932385-20932386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556726884	chr12:20932386-20932387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573557586	chr12:20932393-20932394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1829009	chr12:20932399-20932400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1829008	chr12:20932442-20932443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568414023	chr12:20932462-20932463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186958250	chr12:20932465-20932466	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20931400-20933000	Enhancers	Liver	Liver
2	chr12:20931800-20932200	Enhancers	Adipose Nuclei	Adipose
3	chr12:20931800-20932400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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