Variant report

Variant	esv3486441
Chromosome Location	chr12:43018985-43029383
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	chr12:43025359-43025674	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:43025345-43025677	IMR90	lung:	n/a	n/a
5	CEBPB	chr12:43025322-43025688	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr12:43019491-43019597	K562	blood:	n/a	n/a
7	EP300	chr12:43024204-43024416	K562	blood:	n/a	n/a
8	EP300	chr12:43025398-43025636	Hela-S3	cervix:	n/a	n/a
9	KAP1	chr12:43023782-43024522	U2OS	brain:	n/a	n/a
10	KAP1	chr12:43023607-43024511	HEK293	kidney:	n/a	n/a
11	MAX	chr12:43027528-43027577	NB4	blood:	n/a	chr12:43027560-43027570
12	MAZ	chr12:43027324-43027341	HepG2	liver:	n/a	n/a
13	NFIC	chr12:43019321-43019865	ECC-1	luminal epithelium:	n/a	n/a
14	NFYA	chr12:43019481-43019684	Hela-S3	cervix:	n/a	chr12:43019530-43019548 chr12:43019554-43019572
15	NFYA	chr12:43019379-43019678	K562	blood:	n/a	chr12:43019530-43019548 chr12:43019554-43019572
16	NFYB	chr12:43019303-43019703	K562	blood:	n/a	chr12:43019560-43019575 chr12:43019536-43019551 chr12:43019512-43019527
17	NFYB	chr12:43019379-43019617	GM12878	blood:	n/a	chr12:43019560-43019575 chr12:43019536-43019551 chr12:43019512-43019527
18	NFYB	chr12:43019394-43019613	Hela-S3	cervix:	n/a	chr12:43019560-43019575 chr12:43019536-43019551 chr12:43019512-43019527
19	POLR2A	chr12:43018918-43019033	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:43026076-43026105	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:43019211-43019398	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:43023525-43023576	GM12878	blood:	n/a	n/a
24	PRDM1	chr12:43025419-43025709	Hela-S3	cervix:	n/a	chr12:43025547-43025561 chr12:43025548-43025561 chr12:43025548-43025557 chr12:43025464-43025479
25	RCOR1	chr12:43024116-43024461	K562	blood:	n/a	n/a
26	SETDB1	chr12:43023947-43024926	U2OS	brain:	n/a	n/a
27	SPI1	chr12:43025453-43025798	HL-60	blood:	n/a	n/a
28	STAT3	chr12:43025541-43025741	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr12:43028106-43028135	MCF10A-Er-Src	breast:	n/a	n/a
30	TAL1	chr12:43024297-43024443	K562	blood:	n/a	n/a
31	TCF7L2	chr12:43023886-43024538	HEK293	kidney:	n/a	n/a
32	TEAD4	chr12:43024071-43024481	K562	blood:	n/a	n/a
33	ZNF384	chr12:43024570-43024588	K562	blood:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-1	chr12:43023263-43023488	ENSG00000257510
2	lnc-PRICKLE1-1	chr12:43028083-43028203	ENSG00000257510

Variant related genes	Relation type
ENSG00000257687	TF binding region
ENSG00000257405	chromatin interactions
POGZ	miRNA target sites
EGLN3	miRNA target sites

Extended variants
information (count: 402 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112617476	chr12:43018993-43018994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76695665	chr12:43019031-43019032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527434448	chr12:43019032-43019033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552422076	chr12:43019065-43019066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371396510	chr12:43019105-43019106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112144043	chr12:43019107-43019108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570722715	chr12:43019123-43019124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115165624	chr12:43019124-43019125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550074625	chr12:43019125-43019126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs118125415	chr12:43019130-43019131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11181594	chr12:43019173-43019174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143254272	chr12:43019200-43019201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116468999	chr12:43019228-43019229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534094871	chr12:43019243-43019244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558711672	chr12:43019274-43019275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577052271	chr12:43019276-43019277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191476867	chr12:43019278-43019279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544500333	chr12:43019301-43019302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527301635	chr12:43019314-43019315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563236535	chr12:43019331-43019332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574312110	chr12:43019340-43019341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71435920	chr12:43019375-43019376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146734806	chr12:43019385-43019386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12425775	chr12:43019386-43019387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527396933	chr12:43019412-43019413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183791092	chr12:43019422-43019423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187928818	chr12:43019483-43019484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36055001	chr12:43019504-43019505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12426718	chr12:43019549-43019550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191601206	chr12:43019556-43019557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12424138	chr12:43019593-43019594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs151020738	chr12:43019595-43019596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56836086	chr12:43019607-43019608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397975480	chr12:43019609-43019610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536227354	chr12:43019617-43019618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182679284	chr12:43019686-43019687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113032841	chr12:43019755-43019756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7977195	chr12:43019780-43019781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12426988	chr12:43019781-43019782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557852588	chr12:43019799-43019800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186629590	chr12:43019828-43019829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12424455	chr12:43019872-43019873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144720281	chr12:43019984-43019985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370167943	chr12:43019995-43019996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143607649	chr12:43020076-43020077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10880332	chr12:43020166-43020167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148047695	chr12:43020167-43020168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79604310	chr12:43020234-43020235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545909287	chr12:43020244-43020245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140881070	chr12:43020274-43020275	Weak transcription	n/a	n/a	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43017000-43020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:43018200-43019200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:43018400-43019200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr12:43020800-43021000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:43020800-43021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:43021000-43021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach
8	chr12:43024400-43026200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:43024800-43026000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:43025000-43026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:43025200-43025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:43025200-43026000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:43025200-43026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:43025600-43026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:43025600-43029400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:43025800-43026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:43026000-43029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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