Variant report

Variant	nsv558708
Chromosome Location	chr12:43017525-43027453
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	chr12:43025345-43025677	IMR90	lung:	n/a	n/a
3	CEBPB	chr12:43025322-43025688	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:43025359-43025674	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:43025444-43025655	A549	lung:	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	MAZ	chr12:43027324-43027341	HepG2	liver:	n/a	n/a
12	MXI1	chr12:43018683-43018684	HepG2	liver:	n/a	n/a
13	NFIC	chr12:43019321-43019865	ECC-1	luminal epithelium:	n/a	n/a
14	NFYA	chr12:43019379-43019678	K562	blood:	n/a	chr12:43019530-43019548 chr12:43019554-43019572
15	NFYA	chr12:43019481-43019684	Hela-S3	cervix:	n/a	chr12:43019530-43019548 chr12:43019554-43019572
16	NFYB	chr12:43019379-43019617	GM12878	blood:	n/a	chr12:43019560-43019575 chr12:43019536-43019551 chr12:43019512-43019527
17	NFYB	chr12:43019303-43019703	K562	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	chr12:43019211-43019398	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:43023607-43023620	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:43026076-43026105	MCF10A-Er-Src	breast:	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	TAL1	chr12:43024297-43024443	K562	blood:	n/a	n/a
30	TCF7L2	chr12:43023886-43024538	HEK293	kidney:	n/a	n/a
31	TEAD4	chr12:43024071-43024481	K562	blood:	n/a	n/a
32	ZNF384	chr12:43024570-43024588	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:
2	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:
3	chr12:43020347..43023127-chr12:43029388..43031746,2	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: 390 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17091487	chr12:43017525-43017526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35846624	chr12:43017550-43017551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77995741	chr12:43017561-43017562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143097881	chr12:43017573-43017574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147518605	chr12:43017576-43017577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17091490	chr12:43017581-43017582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115173767	chr12:43017655-43017656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79128145	chr12:43017671-43017672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185258876	chr12:43017673-43017674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12315486	chr12:43017679-43017680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549312835	chr12:43017772-43017773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561597216	chr12:43017800-43017801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528796319	chr12:43017811-43017812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146290209	chr12:43017817-43017818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546921150	chr12:43017864-43017865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529526847	chr12:43017867-43017868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140057524	chr12:43017878-43017879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570885973	chr12:43018053-43018054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555388808	chr12:43018070-43018071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142988109	chr12:43018092-43018093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573700879	chr12:43018106-43018107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117724518	chr12:43018124-43018125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150684651	chr12:43018147-43018148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12426290	chr12:43018151-43018152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554484178	chr12:43018153-43018154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566694326	chr12:43018178-43018179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533824188	chr12:43018193-43018194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563218530	chr12:43018197-43018198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71281676	chr12:43018201-43018202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs67282426	chr12:43018202-43018203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60057468	chr12:43018203-43018204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12426303	chr12:43018212-43018213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545428964	chr12:43018214-43018215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369759974	chr12:43018216-43018217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563378044	chr12:43018240-43018241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139045881	chr12:43018292-43018293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561305852	chr12:43018332-43018333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189730847	chr12:43018350-43018351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540518095	chr12:43018385-43018386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565249715	chr12:43018393-43018394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566433679	chr12:43018435-43018436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77262338	chr12:43018484-43018485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74819725	chr12:43018501-43018502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117347473	chr12:43018522-43018523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7138749	chr12:43018536-43018537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7305260	chr12:43018562-43018563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566546142	chr12:43018604-43018605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12146760	chr12:43018621-43018622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76374467	chr12:43018656-43018657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80297514	chr12:43018687-43018688	Weak transcription Enhancers	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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