Variant report

Variant	nsv983319
Chromosome Location	chr12:47734799-47738693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:47737500-47737650	AG04449	skin:	n/a	n/a
2	CTCF	chr12:47737691-47737693	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr12:47737520-47737670	HA-sp	spinal cord:	n/a	n/a
4	CTCF	chr12:47737580-47737730	HMEC	breast:	n/a	n/a
5	CTCF	chr12:47737604-47737672	K562	blood:	n/a	n/a
6	CTCF	chr12:47737596-47737689	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr12:47737500-47737650	GM12872	blood:	n/a	n/a
8	CTCF	chr12:47737602-47737685	Gliobla	brain:	n/a	n/a
9	CTCF	chr12:47737580-47737730	HMF	breast:	n/a	n/a
10	CTCF	chr12:47737583-47737715	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:47737580-47737730	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr12:47737599-47737668	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:47737560-47737710	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr12:47737500-47737650	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr12:47737520-47737670	AG04450	lung:	n/a	n/a
16	EP300	chr12:47737752-47738165	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr12:47737797-47738046	SK-N-SH_RA	brain:	n/a	n/a
18	FOS	chr12:47737684-47738046	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr12:47737718-47738016	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr12:47738509-47738774	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:47738576-47738688	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr12:47738540-47738775	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:47737708-47738090	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:47737684-47738013	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr12:47737799-47738017	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr12:47737757-47737999	MCF10A-Er-Src	breast:	n/a	n/a
27	PBX3	chr12:47737789-47738080	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr12:47736146-47736240	K562	blood:	n/a	n/a
29	POLR2A	chr12:47737705-47738058	U87	brain:	n/a	n/a
30	POLR2A	chr12:47737553-47737610	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:47737734-47738058	U87	brain:	n/a	n/a
32	STAT3	chr12:47738641-47738707	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr12:47738560-47738811	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr12:47738576-47738690	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr12:47737994-47737998	MCF10A-Er-Src	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000258116	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554859986	chr12:47734851-47734852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28401511	chr12:47734879-47734880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540396011	chr12:47734882-47734883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184093200	chr12:47734902-47734903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs215350	chr12:47734911-47734912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545965983	chr12:47734915-47734916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115380887	chr12:47734976-47734977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377576783	chr12:47734997-47734998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185051224	chr12:47735000-47735001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562002398	chr12:47735027-47735028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202171067	chr12:47735035-47735036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527892679	chr12:47735057-47735058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189562823	chr12:47735082-47735083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114854228	chr12:47735088-47735089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538769430	chr12:47735122-47735123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12302802	chr12:47735151-47735152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568840550	chr12:47735154-47735155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375671312	chr12:47735201-47735202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34902693	chr12:47735251-47735252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182217682	chr12:47735253-47735254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76622227	chr12:47735303-47735304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10492012	chr12:47735312-47735313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553967167	chr12:47735340-47735341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186905535	chr12:47735348-47735349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372993557	chr12:47735364-47735365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556433744	chr12:47735396-47735397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs215351	chr12:47735400-47735401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546324215	chr12:47735404-47735405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78953588	chr12:47735407-47735408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560016743	chr12:47735413-47735414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576034635	chr12:47735435-47735436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113847212	chr12:47735437-47735438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2040644	chr12:47735480-47735481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs528004003	chr12:47735485-47735486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1730454	chr12:47735500-47735501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs375120756	chr12:47735560-47735561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145123509	chr12:47735598-47735599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533320252	chr12:47735673-47735674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2040645	chr12:47735677-47735678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs2040646	chr12:47735701-47735702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs78610354	chr12:47735702-47735703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75965261	chr12:47735723-47735724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568046132	chr12:47735734-47735735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2040647	chr12:47735757-47735758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147179244	chr12:47735786-47735787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192737285	chr12:47735835-47735836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140407971	chr12:47735871-47735872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117258321	chr12:47735875-47735876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144161530	chr12:47735925-47735926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11183877	chr12:47735975-47735976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21804112	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47732400-47735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:47734200-47735000	Enhancers	Fetal Lung	lung
4	chr12:47734600-47737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:47737400-47738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:47737400-47738800	Enhancers	Osteobl	bone
7	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:47737600-47737800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:47737600-47738200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:47737600-47738200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:47737600-47741600	Enhancers	Liver	Liver
12	chr12:47737800-47738200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:47738000-47738200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47738000-47738200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:47738200-47740200	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links