Variant report

Variant	esv3402029
Chromosome Location	chr12:60662510-60665058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568461800	chr12:60662546-60662547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75254443	chr12:60662589-60662590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572183214	chr12:60662649-60662650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530735946	chr12:60662671-60662672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544073510	chr12:60662689-60662690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142416478	chr12:60662700-60662701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58212875	chr12:60662702-60662703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564440124	chr12:60662714-60662715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533241433	chr12:60662735-60662736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546887115	chr12:60662740-60662741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566885708	chr12:60662770-60662771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529262525	chr12:60662778-60662779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570766434	chr12:60662794-60662795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138261747	chr12:60662815-60662816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185097201	chr12:60662818-60662819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558056686	chr12:60662833-60662834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149330535	chr12:60662837-60662838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534244884	chr12:60662852-60662853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554012192	chr12:60662853-60662854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539744517	chr12:60662905-60662906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572515304	chr12:60663076-60663077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537799456	chr12:60663100-60663101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541379712	chr12:60663138-60663139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369482840	chr12:60663150-60663151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73114792	chr12:60663163-60663164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116420468	chr12:60663187-60663188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544423328	chr12:60663268-60663269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564147120	chr12:60663274-60663275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533124747	chr12:60663289-60663290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372503295	chr12:60663298-60663299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540541789	chr12:60663386-60663387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115688476	chr12:60663414-60663415	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529350455	chr12:60663415-60663416	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549096042	chr12:60663417-60663418	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11173384	chr12:60663435-60663436	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531693668	chr12:60663439-60663440	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559079471	chr12:60663459-60663460	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571524403	chr12:60663518-60663519	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575774812	chr12:60663520-60663521	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547689609	chr12:60663536-60663537	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373545602	chr12:60663561-60663562	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544740694	chr12:60663591-60663592	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535474325	chr12:60663597-60663598	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554341036	chr12:60663611-60663612	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555041123	chr12:60663613-60663614	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575148830	chr12:60663618-60663619	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7312225	chr12:60663620-60663621	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561419524	chr12:60663622-60663623	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577913092	chr12:60663644-60663645	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112467819	chr12:60663647-60663648	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60661400-60663400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:60661800-60664600	Weak transcription	A549	lung
3	chr12:60663000-60663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:60663400-60663800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:60663400-60664200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:60663800-60675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:60664200-60675400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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