Variant report

Variant	nsv977137
Chromosome Location	chr12:43020822-43026302
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	chr12:43025345-43025677	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:43025322-43025688	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:43025359-43025674	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:43025330-43025600	K562	blood:	n/a	n/a
5	CEBPB	chr12:43025444-43025655	A549	lung:	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	chr12:43023607-43024511	HEK293	kidney:	n/a	n/a
9	KAP1	chr12:43023782-43024522	U2OS	brain:	n/a	n/a
10	POLR2A	chr12:43023525-43023576	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:43026076-43026105	MCF10A-Er-Src	breast:	n/a	n/a
13	PRDM1	chr12:43025419-43025709	Hela-S3	cervix:	n/a	chr12:43025547-43025561 chr12:43025548-43025561 chr12:43025548-43025557 chr12:43025464-43025479
14	RCOR1	chr12:43024116-43024461	K562	blood:	n/a	n/a
15	SETDB1	chr12:43023947-43024926	U2OS	brain:	n/a	n/a
16	SPI1	chr12:43025453-43025798	HL-60	blood:	n/a	n/a
17	STAT3	chr12:43025541-43025741	MCF10A-Er-Src	breast:	n/a	n/a
18	TAL1	chr12:43024297-43024443	K562	blood:	n/a	n/a
19	TCF7L2	chr12:43023886-43024538	HEK293	kidney:	n/a	n/a
20	TEAD4	chr12:43024071-43024481	K562	blood:	n/a	n/a
21	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: 203 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373992491	chr12:43020825-43020826	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7302424	chr12:43020849-43020850	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189167570	chr12:43020856-43020857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192872508	chr12:43020857-43020858	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs7131974	chr12:43020864-43020865	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs118070832	chr12:43020879-43020880	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80034683	chr12:43020889-43020890	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527632703	chr12:43020915-43020916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560956630	chr12:43020924-43020925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570576381	chr12:43020934-43020935	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531815984	chr12:43020958-43020959	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185451647	chr12:43020993-43020994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375361202	chr12:43021009-43021010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189560927	chr12:43021014-43021015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535707028	chr12:43021072-43021073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4768430	chr12:43021075-43021076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566401344	chr12:43021089-43021090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539407658	chr12:43021093-43021094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4768431	chr12:43021117-43021118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17568121	chr12:43021158-43021159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543502204	chr12:43021226-43021227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373818815	chr12:43021228-43021229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149604764	chr12:43021244-43021245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370156328	chr12:43021301-43021302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374074788	chr12:43021306-43021307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78744125	chr12:43021324-43021325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144393593	chr12:43021349-43021350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559193424	chr12:43021415-43021416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533073524	chr12:43021422-43021423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199652951	chr12:43021431-43021432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181106160	chr12:43021458-43021459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7306530	chr12:43021465-43021466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148810400	chr12:43021466-43021467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550237946	chr12:43021549-43021550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7306683	chr12:43021575-43021576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529440683	chr12:43021577-43021578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531702537	chr12:43021587-43021588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7303511	chr12:43021604-43021605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376785206	chr12:43021627-43021628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12578133	chr12:43021685-43021686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552152175	chr12:43021695-43021696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548013813	chr12:43021721-43021722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142452856	chr12:43021740-43021741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536658393	chr12:43021774-43021775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555393833	chr12:43021778-43021779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573677125	chr12:43021792-43021793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77061571	chr12:43021803-43021804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199792138	chr12:43021814-43021815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577443045	chr12:43021829-43021830	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544897985	chr12:43021839-43021840	Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43020800-43021000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:43020800-43021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:43021000-43021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach
5	chr12:43024400-43026200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:43024800-43026000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:43025000-43026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:43025200-43025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:43025200-43026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:43025200-43026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:43025600-43026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:43025600-43029400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:43025800-43026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:43026000-43029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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