Variant report

Variant	nsv527663
Chromosome Location	chr12:47676950-47679348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:47676616-47676958	K562	blood:	n/a	n/a
2	CEBPB	chr12:47679320-47679367	IMR90	lung:	n/a	n/a
3	CUX1	chr12:47677639-47677703	K562	blood:	n/a	n/a
4	FOS	chr12:47679199-47679342	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:47679193-47679393	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:47679167-47679359	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr12:47676735-47677004	K562	blood:	n/a	n/a
8	MAX	chr12:47677577-47677712	K562	blood:	n/a	n/a
9	POLR2A	chr12:47679170-47679313	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr12:47676764-47676987	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47672241..47674143-chr12:47677383..47679147,2	K562	blood:
2	chr12:47674879..47677351-chr12:47677477..47680318,3	K562	blood:
3	chr12:47674879..47677351-chr12:47677477..47680318,3	K562	blood:
4	chr12:47679239..47680946-chr12:47682509..47685400,2	K562	blood:
5	chr12:47675905..47678814-chr12:47683290..47684985,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257925	TF binding region
ENSG00000257925	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214678	chr12:47676950-47676951	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11183828	chr12:47676999-47677000	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545299978	chr12:47677033-47677034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565199229	chr12:47677037-47677038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531100723	chr12:47677076-47677077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550810292	chr12:47677092-47677093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76575432	chr12:47677108-47677109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529019967	chr12:47677132-47677133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140396237	chr12:47677175-47677176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374626570	chr12:47677207-47677208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11183829	chr12:47677259-47677260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372456289	chr12:47677290-47677291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111310156	chr12:47677328-47677329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551385725	chr12:47677344-47677345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571612931	chr12:47677345-47677346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185370031	chr12:47677376-47677377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs214679	chr12:47677388-47677389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567315029	chr12:47677407-47677408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371950646	chr12:47677430-47677431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572329014	chr12:47677434-47677435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536772877	chr12:47677442-47677443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78789894	chr12:47677499-47677500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138045728	chr12:47677501-47677502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11836213	chr12:47677509-47677510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545042711	chr12:47677519-47677520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558525730	chr12:47677527-47677528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112325312	chr12:47677590-47677591	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190192912	chr12:47677619-47677620	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576284183	chr12:47677668-47677669	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112814579	chr12:47677674-47677675	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530207779	chr12:47677712-47677713	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs855184	chr12:47677799-47677800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs855185	chr12:47677812-47677813	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528189168	chr12:47677839-47677840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74910797	chr12:47677853-47677854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578007830	chr12:47677873-47677874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114135136	chr12:47678065-47678066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530840132	chr12:47678066-47678067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142832581	chr12:47678076-47678077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567456860	chr12:47678103-47678104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183751259	chr12:47678116-47678117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113037243	chr12:47678133-47678134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545031342	chr12:47678134-47678135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188472414	chr12:47678155-47678156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59620308	chr12:47678228-47678229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538725519	chr12:47678258-47678259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558564356	chr12:47678273-47678274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6582700	chr12:47678296-47678297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181186236	chr12:47678336-47678337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112687236	chr12:47678380-47678381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
T-cell prolymphocytic leukemia	17713554	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
small cell lung cancer	20016488	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
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47672000-47677800	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr12:47672800-47680200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:47674000-47677000	Weak transcription	Hela-S3	cervix
4	chr12:47674200-47677800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47674400-47677000	Enhancers	HSMM	muscle
6	chr12:47674400-47677000	Enhancers	K562	blood
7	chr12:47674400-47677000	Enhancers	NH-A	brain
8	chr12:47674800-47677000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:47674800-47677000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:47674800-47677000	Enhancers	Osteobl	bone
11	chr12:47675200-47677600	Enhancers	Primary T cells from cord blood	blood
12	chr12:47675400-47677000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:47676000-47677000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:47676000-47678800	Weak transcription	NHEK	skin
15	chr12:47676200-47677000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:47676200-47697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:47676600-47677000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:47676600-47678600	Weak transcription	A549	lung
19	chr12:47676800-47677000	Bivalent Enhancer	Fetal Lung	lung
20	chr12:47676800-47680400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:47676800-47680400	Weak transcription	HSMMtube	muscle
22	chr12:47676800-47687600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:47677800-47678800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:47677800-47680200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:47678800-47679000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:47679200-47679400	Enhancers	A549	lung

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