Variant report

Variant	nsv516147
Chromosome Location	chr12:62271118-62272569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:62271133-62271351	HepG2	liver:	n/a	chr12:62271249-62271260
2	CEBPB	chr12:62271129-62271306	A549	lung:	n/a	chr12:62271249-62271260
3	MAZ	chr12:62271221-62271230	HepG2	liver:	n/a	n/a
4	STAT3	chr12:62272430-62272630	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KRT8P19	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10877755	chr12:62271118-62271119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192577242	chr12:62271132-62271133	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs184611804	chr12:62271164-62271165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10732748	chr12:62271217-62271218	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs80267701	chr12:62271250-62271251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538240509	chr12:62271271-62271272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528294759	chr12:62271305-62271306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557317724	chr12:62271343-62271344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs145917236	chr12:62271376-62271377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10877756	chr12:62271383-62271384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs578133684	chr12:62271384-62271385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530683289	chr12:62271464-62271465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10877757	chr12:62271533-62271534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372617170	chr12:62271545-62271546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570306714	chr12:62271557-62271558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188978203	chr12:62271581-62271582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138839853	chr12:62271594-62271595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192615945	chr12:62271600-62271601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184866451	chr12:62271618-62271619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555504055	chr12:62271627-62271628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189371543	chr12:62271631-62271632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66981623	chr12:62271681-62271682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376637681	chr12:62271683-62271684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55849369	chr12:62271684-62271685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74275691	chr12:62271685-62271686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377749474	chr12:62271695-62271696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372711438	chr12:62271697-62271698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201803041	chr12:62271698-62271699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200315512	chr12:62271699-62271700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200686468	chr12:62271701-62271702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201662342	chr12:62271703-62271704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149667512	chr12:62271705-62271706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57233464	chr12:62271722-62271723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12310358	chr12:62271723-62271724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180924146	chr12:62271739-62271740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542062688	chr12:62271748-62271749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377332133	chr12:62271803-62271804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561837543	chr12:62271804-62271805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530837552	chr12:62271815-62271816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74544291	chr12:62271870-62271871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532769458	chr12:62271876-62271877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546322817	chr12:62271886-62271887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142582563	chr12:62271940-62271941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566243301	chr12:62272022-62272023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542047641	chr12:62272038-62272039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185799199	chr12:62272102-62272103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59223108	chr12:62272144-62272145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538568264	chr12:62272177-62272178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558167347	chr12:62272232-62272233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189914183	chr12:62272248-62272249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62266000-62273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62266200-62273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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