Variant report

Variant	nsv558735
Chromosome Location	chr12:43021814-43025677
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	chr12:43025330-43025600	K562	blood:	n/a	n/a
2	CEBPB	chr12:43025444-43025655	A549	lung:	n/a	n/a
3	CEBPB	chr12:43025345-43025677	IMR90	lung:	n/a	n/a
4	CEBPB	chr12:43025359-43025674	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:43025322-43025688	Hela-S3	cervix:	n/a	n/a
6	EP300	chr12:43024204-43024416	K562	blood:	n/a	n/a
7	EP300	chr12:43025398-43025636	Hela-S3	cervix:	n/a	n/a
8	KAP1	chr12:43023782-43024522	U2OS	brain:	n/a	n/a
9	KAP1	chr12:43023607-43024511	HEK293	kidney:	n/a	n/a
10	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:43023525-43023576	GM12878	blood:	n/a	n/a
12	PRDM1	chr12:43025419-43025709	Hela-S3	cervix:	n/a	chr12:43025547-43025561 chr12:43025548-43025561 chr12:43025548-43025557 chr12:43025464-43025479
13	RCOR1	chr12:43024116-43024461	K562	blood:	n/a	n/a
14	SETDB1	chr12:43023947-43024926	U2OS	brain:	n/a	n/a
15	SPI1	chr12:43025453-43025798	HL-60	blood:	n/a	n/a
16	STAT3	chr12:43025541-43025741	MCF10A-Er-Src	breast:	n/a	n/a
17	TAL1	chr12:43024297-43024443	K562	blood:	n/a	n/a
18	TCF7L2	chr12:43023886-43024538	HEK293	kidney:	n/a	n/a
19	TEAD4	chr12:43024071-43024481	K562	blood:	n/a	n/a
20	ZNF384	chr12:43024570-43024588	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:
2	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-1	chr12:43023263-43023488	ENSG00000257510

Variant related genes	Relation type
ENSG00000257687	TF binding region
ENSG00000257405	chromatin interactions
POGZ	miRNA target sites

Extended variants
information (count: 137 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199792138	chr12:43021814-43021815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577443045	chr12:43021829-43021830	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544897985	chr12:43021839-43021840	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12229770	chr12:43021849-43021850	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576342858	chr12:43021901-43021902	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs578104165	chr12:43021914-43021915	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184026557	chr12:43021926-43021927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10785362	chr12:43021935-43021936	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572819774	chr12:43021937-43021938	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147473446	chr12:43021940-43021941	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11181595	chr12:43021943-43021944	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10785363	chr12:43021970-43021971	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543472076	chr12:43021998-43021999	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145950009	chr12:43021999-43022000	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549817235	chr12:43022016-43022017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139801957	chr12:43022054-43022055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552012189	chr12:43022096-43022097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186182308	chr12:43022102-43022103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78509764	chr12:43022196-43022197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4768020	chr12:43022300-43022301	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs143285172	chr12:43022329-43022330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534389677	chr12:43022393-43022394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552696091	chr12:43022396-43022397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577404674	chr12:43022397-43022398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7972281	chr12:43022430-43022431	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192455971	chr12:43022435-43022436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11464030	chr12:43022454-43022455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397933922	chr12:43022458-43022459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557170447	chr12:43022475-43022476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74922525	chr12:43022504-43022505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575468695	chr12:43022510-43022511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113325678	chr12:43022545-43022546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181705044	chr12:43022559-43022560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548942143	chr12:43022562-43022563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7957066	chr12:43022566-43022567	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112491232	chr12:43022641-43022642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34029054	chr12:43022657-43022658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559897419	chr12:43022669-43022670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200209027	chr12:43022672-43022673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs113808718	chr12:43022713-43022714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34750142	chr12:43022721-43022722	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs12828281	chr12:43022727-43022728	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531095858	chr12:43022736-43022737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549679045	chr12:43022737-43022738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539229529	chr12:43022777-43022778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566919109	chr12:43022799-43022800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376881085	chr12:43022800-43022801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554453014	chr12:43022807-43022808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546247070	chr12:43022840-43022841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558635239	chr12:43022931-43022932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach
2	chr12:43024400-43026200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:43024800-43026000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:43025000-43026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:43025200-43025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:43025200-43026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:43025200-43026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:43025600-43026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:43025600-43029400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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