Variant report

Variant	nsv983286
Chromosome Location	chr12:11465028-11494324
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	chr12:11478711-11479007	HepG2	liver:	n/a	chr12:11478828-11478841 chr12:11478830-11478839 chr12:11478828-11478839 chr12:11478829-11478840
2	CTCF	chr12:11490383-11490444	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr12:11492997-11493057	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr12:11479244-11479459	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:11485076-11485346	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:11479372-11479443	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:11485095-11485281	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr12:11479242-11479565	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr12:11485158-11485318	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:11478732-11479038	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:11478749-11478969	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:11479259-11479477	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr12:11478729-11478997	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr12:11467222-11467234	HepG2	liver:	n/a	n/a
15	JUND	chr12:11493564-11493587	HepG2	liver:	n/a	n/a
16	JUND	chr12:11479292-11479506	HepG2	liver:	n/a	chr12:11479387-11479398
17	MAFF	chr12:11477432-11477689	HepG2	liver:	n/a	chr12:11477553-11477567
18	MAFF	chr12:11477450-11477607	K562	blood:	n/a	chr12:11477553-11477567
19	MAFK	chr12:11477417-11477690	IMR90	lung:	n/a	chr12:11477550-11477570
20	MAFK	chr12:11477381-11477729	HepG2	liver:	n/a	chr12:11477550-11477570
21	MAFK	chr12:11477438-11477671	HepG2	liver:	n/a	chr12:11477550-11477570
22	MAFK	chr12:11477543-11477579	K562	blood:	n/a	chr12:11477550-11477570
23	MAFK	chr12:11477511-11477623	Hela-S3	cervix:	n/a	chr12:11477550-11477570
24	MAFK	chr12:11475339-11475480	HepG2	liver:	n/a	n/a
25	MAFK	chr12:11483109-11483222	HepG2	liver:	n/a	n/a
26	MYC	chr12:11478731-11478931	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr12:11474027-11474060	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:11474621-11474627	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:11469194-11469317	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:11483960-11484187	MCF10A-Er-Src	breast:	n/a	n/a
31	REST	chr12:11469174-11469323	H1-hESC	embryonic stem cell:	n/a	n/a
32	RXRA	chr12:11469183-11469329	HepG2	liver:	n/a	n/a
33	SPI1	chr12:11471212-11471446	K562	blood:	n/a	n/a
34	SPI1	chr12:11476593-11476867	HL-60	blood:	n/a	n/a
35	SPI1	chr12:11471205-11471472	GM12891	blood:	n/a	n/a
36	SPI1	chr12:11471247-11471432	K562	blood:	n/a	n/a
37	SPI1	chr12:11471231-11471443	GM12878	blood:	n/a	n/a
38	STAT3	chr12:11479330-11479551	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
39	STAT3	chr12:11479249-11479464	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
40	STAT3	chr12:11485247-11485261	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr12:11479334-11479534	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
42	STAT3	chr12:11479381-11479569	MCF10A-Er-Src	breast:	n/a	chr12:11479412-11479421 chr12:11479413-11479422 chr12:11479410-11479424
43	STAT3	chr12:11485098-11485368	MCF10A-Er-Src	breast:	n/a	n/a
44	USF1	chr12:11476414-11476545	HepG2	liver:	n/a	chr12:11476487-11476498
45	ZBTB33	chr12:11469092-11469345	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PRB4	TF binding region

Extended variants
information (count: 1204 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534885567	chr12:11467086-11467087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548096630	chr12:11467088-11467089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568227739	chr12:11467134-11467135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560571047	chr12:11473617-11473618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374766198	chr12:11473620-11473621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529498091	chr12:11473629-11473630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569762233	chr12:11473640-11473641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139127768	chr12:11473665-11473666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116135080	chr12:11473676-11473677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59771996	chr12:11473698-11473699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551395643	chr12:11473751-11473752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571594437	chr12:11473752-11473753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533887356	chr12:11473761-11473762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80302373	chr12:11473764-11473765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539203077	chr12:11473778-11473779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567409216	chr12:11473793-11473794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536454133	chr12:11473818-11473819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371090433	chr12:11473834-11473835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187480854	chr12:11473857-11473858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576220906	chr12:11473901-11473902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201228328	chr12:11473912-11473913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202241997	chr12:11473930-11473931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200246311	chr12:11473935-11473936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538725546	chr12:11473972-11473973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575964876	chr12:11473997-11473998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374150636	chr12:11474003-11474004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558300002	chr12:11474010-11474011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572007544	chr12:11474014-11474015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540612454	chr12:11474050-11474051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560840944	chr12:11474053-11474054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573965336	chr12:11474115-11474116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542825643	chr12:11474143-11474144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562723544	chr12:11474151-11474152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531718700	chr12:11474163-11474164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544919047	chr12:11474176-11474177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554988950	chr12:11474182-11474183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76936780	chr12:11474194-11474195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150792944	chr12:11474236-11474237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111938359	chr12:11474334-11474335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547429434	chr12:11474389-11474390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192039896	chr12:11474402-11474403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529982177	chr12:11474409-11474410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550038575	chr12:11474426-11474427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138106083	chr12:11474465-11474466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201642707	chr12:11474469-11474470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540749602	chr12:11474470-11474471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560354535	chr12:11474472-11474473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538788055	chr12:11474493-11474494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558612795	chr12:11474500-11474501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565591426	chr12:11474506-11474507	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11467000-11467200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:11473600-11475800	Enhancers	Fetal Heart	heart
3	chr12:11474600-11475000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:11475400-11478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:11478200-11479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:11478800-11479400	Enhancers	HMEC	breast
7	chr12:11479000-11479200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:11479200-11480200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:11479200-11493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:11486800-11487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:11493000-11493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:11493000-11493400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:11493000-11494200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:11494200-11496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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