Variant report

Variant	nsv53146
Chromosome Location	chr12:57982442-57983701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:57982831-57983315	K562	blood:	n/a	n/a
2	CBX3	chr12:57982911-57983334	K562	blood:	n/a	n/a
3	CEBPB	chr12:57982227-57982465	IMR90	lung:	n/a	n/a
4	CEBPB	chr12:57982275-57982455	A549	lung:	n/a	n/a
5	CTCF	chr12:57982443-57982562	GM10248	blood:	n/a	n/a
6	CTCF	chr12:57982921-57982977	GM10248	blood:	n/a	n/a
7	CUX1	chr12:57982836-57982927	K562	blood:	n/a	n/a
8	JUND	chr12:57983137-57983299	K562	blood:	n/a	n/a
9	MAFF	chr12:57982907-57983107	K562	blood:	n/a	n/a
10	MAFK	chr12:57982833-57983116	K562	blood:	n/a	n/a
11	MAFK	chr12:57982955-57983024	HepG2	liver:	n/a	n/a
12	MAFK	chr12:57982851-57983051	IMR90	lung:	n/a	n/a
13	MAZ	chr12:57983130-57983171	K562	blood:	n/a	n/a
14	NR2F2	chr12:57982817-57983259	K562	blood:	n/a	n/a
15	PAX5	chr12:57982959-57983380	GM12878	blood:	n/a	n/a
16	PAX5	chr12:57982931-57983395	GM12878	blood:	n/a	n/a
17	PAX5	chr12:57982812-57983393	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:57982909-57983035	HepG2	liver:	n/a	n/a
19	POLR2A	chr12:57983024-57983354	K562	blood:	n/a	n/a
20	RCOR1	chr12:57983106-57983306	K562	blood:	n/a	n/a
21	SPI1	chr12:57982844-57983192	K562	blood:	n/a	n/a
22	SPI1	chr12:57982868-57983153	GM12891	blood:	n/a	n/a
23	SPI1	chr12:57983002-57983116	GM12878	blood:	n/a	n/a
24	SPI1	chr12:57982875-57983224	GM12878	blood:	n/a	n/a
25	TBP	chr12:57983220-57983284	K562	blood:	n/a	n/a
26	UBTF	chr12:57983038-57983348	K562	blood:	n/a	n/a
27	UBTF	chr12:57983146-57983347	K562	blood:	n/a	n/a
28	USF1	chr12:57982685-57983032	K562	blood:	n/a	chr12:57982905-57982916
29	USF1	chr12:57982784-57983019	K562	blood:	n/a	chr12:57982905-57982916
30	USF1	chr12:57982825-57982986	HepG2	liver:	n/a	chr12:57982905-57982916
31	USF1	chr12:57982834-57982973	HepG2	liver:	n/a	chr12:57982905-57982916
32	ZNF384	chr12:57982312-57982557	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57983190..57986031-chr12:58086563..58089648,3	K562	blood:
2	chr12:57983000..57984965-chr12:58144459..58146652,2	MCF-7	breast:
3	chr12:57912977..57915382-chr12:57982264..57984684,2	MCF-7	breast:
4	chr12:57983656..57985947-chr12:58119170..58122047,3	MCF-7	breast:
5	chr12:57980232..57983207-chr12:58117360..58119823,3	MCF-7	breast:
6	chr12:57983700..57986584-chr12:58162901..58165594,2	K562	blood:
7	chr12:57916409..57919050-chr12:57983099..57985919,3	MCF-7	breast:
8	chr12:57983454..57989400-chr12:57989791..58002327,29	MCF-7	breast:
9	chr12:57983573..57987941-chr12:58024849..58028209,5	MCF-7	breast:
10	chr12:57983103..57986007-chr12:58086180..58089172,2	MCF-7	breast:
11	chr12:57983391..57985108-chr12:58026747..58028430,2	MCF-7	breast:
12	chr12:57869564..57871597-chr12:57983396..57986014,2	K562	blood:
13	chr12:57980950..57983241-chr12:58144610..58146374,2	K562	blood:
14	chr12:57867428..57869437-chr12:57981314..57983713,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIP4K2C	TF binding region
ENSG00000123427	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000255737	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000166908	chromatin interactions
ENSG00000135506	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000135454	chromatin interactions
ENSG00000123329	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000257499	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145577962	chr12:57982450-57982451	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs566623103	chr12:57982456-57982457	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs541306176	chr12:57982468-57982469	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs147266096	chr12:57982469-57982470	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs200488782	chr12:57982512-57982513	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs111428815	chr12:57982518-57982519	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs79886337	chr12:57982520-57982521	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs140849239	chr12:57982523-57982524	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs556988884	chr12:57982526-57982527	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs575615952	chr12:57982550-57982551	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs561167511	chr12:57982573-57982574	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs1678508	chr12:57982593-57982594	Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35835650	chr12:57982674-57982675	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs34147645	chr12:57982682-57982683	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs113096856	chr12:57982687-57982688	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs573487620	chr12:57982690-57982691	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs34495720	chr12:57982699-57982700	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs543553609	chr12:57982702-57982703	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs374812198	chr12:57982707-57982708	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs577958792	chr12:57982712-57982713	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs549083317	chr12:57982715-57982716	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs182782261	chr12:57982716-57982717	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs374716112	chr12:57982734-57982735	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs187427957	chr12:57982765-57982766	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs151259830	chr12:57982793-57982794	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs7964896	chr12:57982794-57982795	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs537227473	chr12:57982833-57982834	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs73346063	chr12:57982852-57982853	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149736847	chr12:57982884-57982885	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs537785515	chr12:57982890-57982891	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs566457440	chr12:57982935-57982936	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs557568355	chr12:57982948-57982949	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs533872350	chr12:57982973-57982974	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs146472063	chr12:57982977-57982978	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs146763748	chr12:57983000-57983001	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs10747781	chr12:57983043-57983044	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs375174051	chr12:57983092-57983093	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs34580586	chr12:57983102-57983103	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs192235467	chr12:57983110-57983111	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs184621416	chr12:57983174-57983175	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs559964758	chr12:57983206-57983207	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs569285784	chr12:57983212-57983213	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs190564579	chr12:57983213-57983214	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs557913535	chr12:57983217-57983218	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs573182818	chr12:57983231-57983232	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs574763115	chr12:57983301-57983302	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs140329934	chr12:57983314-57983315	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs369778215	chr12:57983338-57983339	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs540588326	chr12:57983409-57983410	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs574309311	chr12:57983461-57983462	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57964400-57984400	Weak transcription	Pancreas	Pancrea
2	chr12:57966400-57984000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57966600-57984000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:57966600-57984600	Weak transcription	Gastric	stomach
5	chr12:57966800-57984400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:57970600-57984200	Weak transcription	Fetal Brain Male	brain
7	chr12:57972200-57984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:57972200-57984400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:57975600-57984200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:57975800-57984200	Weak transcription	Brain Angular Gyrus	brain
11	chr12:57975800-57984400	Weak transcription	Aorta	Aorta
12	chr12:57976200-57984200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:57976400-57984400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:57976600-57984200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:57976800-57984200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:57977000-57984200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:57977000-57984400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:57977200-57984200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:57977600-57984200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:57977800-57984200	Weak transcription	HepG2	liver
21	chr12:57978600-57982800	Weak transcription	K562	blood
22	chr12:57978800-57984200	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:57979800-57984200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57980400-57984200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:57980600-57984200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:57980600-57984200	Weak transcription	Brain Germinal Matrix	brain
27	chr12:57980800-57984200	Weak transcription	Fetal Brain Female	brain
28	chr12:57981000-57984200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:57982200-57984400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:57982800-57984200	Enhancers	K562	blood
31	chr12:57983000-57983600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:57983600-57984000	Weak transcription	Primary monocytes fromperipheralblood	blood

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