Variant report

Variant	esv13433
Chromosome Location	chr12:73220084-73221080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9737741	chr12:73220090-73220091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541585429	chr12:73220095-73220096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113280559	chr12:73220124-73220125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537383038	chr12:73220178-73220179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151059751	chr12:73220184-73220185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186253431	chr12:73220208-73220209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9738998	chr12:73220255-73220256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190646342	chr12:73220280-73220281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532864318	chr12:73220292-73220293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551119929	chr12:73220301-73220302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181538588	chr12:73220309-73220310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530194293	chr12:73220320-73220321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386764195	chr12:73220353-73220354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10879501	chr12:73220354-73220355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572866187	chr12:73220362-73220363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552165390	chr12:73220423-73220424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530570217	chr12:73220437-73220438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139806438	chr12:73220447-73220448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149718500	chr12:73220495-73220496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75911507	chr12:73220516-73220517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11179392	chr12:73220517-73220518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76991416	chr12:73220531-73220532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545775115	chr12:73220542-73220543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10879502	chr12:73220644-73220645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370107635	chr12:73220663-73220664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544613080	chr12:73220683-73220684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563089676	chr12:73220701-73220702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530278825	chr12:73220755-73220756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542414626	chr12:73220796-73220797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144840925	chr12:73220798-73220799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60722371	chr12:73220799-73220800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10879503	chr12:73220813-73220814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138134149	chr12:73220855-73220856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72424149	chr12:73220856-73220857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11837401	chr12:73220902-73220903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116656229	chr12:73220913-73220914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547944058	chr12:73220918-73220919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549846139	chr12:73220925-73220926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568240269	chr12:73220926-73220927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535247975	chr12:73220928-73220929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554017857	chr12:73220946-73220947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10879504	chr12:73220992-73220993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539561248	chr12:73221001-73221002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557771407	chr12:73221008-73221009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575995200	chr12:73221044-73221045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58318369	chr12:73221058-73221059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10879505	chr12:73221063-73221064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73215200-73221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:73216000-73227000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:73219400-73221400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:73219600-73220200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:73220000-73220600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:73220200-73221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:73220600-73221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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