Variant report

Variant	esv1010928
Chromosome Location	chr12:48706486-48711554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:
2	chr12:48699980..48703428-chr12:48704506..48706488,3	K562	blood:
3	chr12:48688262..48692290-chr12:48702214..48707293,5	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2634693	chr12:48706498-48706499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190375725	chr12:48706502-48706503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565696506	chr12:48706503-48706504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139903756	chr12:48706513-48706514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143712539	chr12:48706578-48706579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534270155	chr12:48706581-48706582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2634692	chr12:48706584-48706585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs370421443	chr12:48706593-48706594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556806474	chr12:48706645-48706646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10875794	chr12:48706703-48706704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10875795	chr12:48706724-48706725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111371732	chr12:48706763-48706764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573425697	chr12:48706803-48706804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545736063	chr12:48706836-48706837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145185365	chr12:48706845-48706846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530958477	chr12:48706892-48706893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544593130	chr12:48706921-48706922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561267753	chr12:48706990-48706991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149221493	chr12:48707010-48707011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546731270	chr12:48707026-48707027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565561812	chr12:48707027-48707028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528237673	chr12:48707049-48707050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551297626	chr12:48707081-48707082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181180334	chr12:48707091-48707092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78957378	chr12:48707096-48707097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79209492	chr12:48707165-48707166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544951280	chr12:48707189-48707190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139269932	chr12:48707197-48707198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567111657	chr12:48707250-48707251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536347375	chr12:48707258-48707259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11168517	chr12:48707273-48707274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11168518	chr12:48707303-48707304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539217613	chr12:48707307-48707308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186181965	chr12:48707326-48707327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12825102	chr12:48707341-48707342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12825127	chr12:48707382-48707383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7488575	chr12:48707395-48707396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111832973	chr12:48707430-48707431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28734773	chr12:48707486-48707487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12313745	chr12:48707494-48707495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs12824405	chr12:48707533-48707534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191445787	chr12:48707551-48707552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184093322	chr12:48707592-48707593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560199052	chr12:48707594-48707595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12824591	chr12:48707629-48707630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551155946	chr12:48707662-48707663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564874157	chr12:48707674-48707675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530841372	chr12:48707697-48707698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12322347	chr12:48707698-48707699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs12322348	chr12:48707699-48707700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:67)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	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
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48705400-48707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48707800-48708000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48707800-48708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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