Variant report

Variant	esv275510
Chromosome Location	chr12:74253843-74299959
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	ATF1	chr12:74282572-74282667	K562	blood:	n/a	n/a
2	CEBPB	chr12:74286000-74286226	A549	lung:	n/a	n/a
3	CEBPB	chr12:74287777-74287783	K562	blood:	n/a	n/a
4	CEBPB	chr12:74287654-74287786	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:74285580-74285730	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr12:74297808-74297888	Fibrobl	skin:	n/a	n/a
7	CTCF	chr12:74289266-74289294	Lung_OC	lung:	n/a	n/a
8	CUX1	chr12:74291737-74291759	GM12878	blood:	n/a	n/a
9	E2F4	chr12:74256624-74256904	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr12:74261079-74261171	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr12:74257294-74257683	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr12:74286132-74286272	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr12:74273531-74273852	GM12878	blood:	n/a	n/a
14	EBF1	chr12:74275237-74275907	GM12878	blood:	n/a	chr12:74275737-74275747 chr12:74275736-74275749 chr12:74275736-74275747 chr12:74275738-74275747
15	FOS	chr12:74257366-74257719	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
16	FOS	chr12:74257320-74257796	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
17	FOS	chr12:74257278-74257914	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
18	FOS	chr12:74286028-74286313	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr12:74257175-74257746	HUVEC	blood vessel:	n/a	chr12:74257548-74257559 chr12:74257227-74257238 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
20	FOS	chr12:74286046-74286272	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:74257229-74257800	MCF10A-Er-Src	breast:	n/a	chr12:74257548-74257559 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
22	FOS	chr12:74286012-74286214	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr12:74286068-74286294	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr12:74261003-74261228	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL1	chr12:74257197-74257831	HCT-116	colon:	n/a	chr12:74257227-74257238 chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
26	FOSL1	chr12:74257258-74257657	HCT-116	colon:	n/a	chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
27	FOSL2	chr12:74257320-74257727	SK-N-SH	brain:	n/a	chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
28	GATA2	chr12:74257198-74257781	HUVEC	blood vessel:	n/a	chr12:74257548-74257557 chr12:74257541-74257551
29	GATA3	chr12:74263562-74263732	SH-SY5Y	brain:	n/a	n/a
30	IRF3	chr12:74268024-74268062	GM12878	blood:	n/a	n/a
31	JUN	chr12:74297917-74297918	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUN	chr12:74265995-74266004	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr12:74257309-74257826	HUVEC	blood vessel:	n/a	chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
34	JUND	chr12:74257229-74257819	HCT-116	colon:	n/a	chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
35	JUND	chr12:74257236-74257760	HCT-116	colon:	n/a	chr12:74257546-74257557 chr12:74257549-74257558 chr12:74257551-74257558
36	MAFF	chr12:74283364-74283617	HepG2	liver:	n/a	n/a
37	MAFK	chr12:74280793-74281082	HepG2	liver:	n/a	chr12:74280906-74280917
38	MAFK	chr12:74283417-74283641	HepG2	liver:	n/a	n/a
39	MAFK	chr12:74259040-74259174	HepG2	liver:	n/a	n/a
40	MAFK	chr12:74291315-74291351	HepG2	liver:	n/a	chr12:74291338-74291349 chr12:74291336-74291350 chr12:74291333-74291349
41	MAX	chr12:74286357-74286377	A549	lung:	n/a	n/a
42	MYC	chr12:74257419-74257700	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr12:74286086-74286422	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr12:74291302-74291483	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr12:74285955-74286294	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr12:74257366-74257668	MCF10A-Er-Src	breast:	n/a	n/a
47	PAX5	chr12:74271193-74271340	GM12878	blood:	n/a	n/a
48	PBX3	chr12:74257346-74257679	SK-N-SH	brain:	n/a	n/a
49	PBX3	chr12:74271212-74271327	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:74257355-74257713	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
2	chr12:74287229..74290045-chr12:74297410..74300071,2	K562	blood:
3	chr12:74294795..74296655-chr12:74314771..74316525,2	K562	blood:

Variant related genes	Relation type
ENSG00000257587	TF binding region
ENSG00000272231	TF binding region

Extended variants
information (count: 625 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542219926	chr12:74257001-74257002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113316224	chr12:74257011-74257012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143277781	chr12:74257013-74257014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577726007	chr12:74257088-74257089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572795354	chr12:74257156-74257157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75672420	chr12:74257203-74257204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111286485	chr12:74257277-74257278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569036142	chr12:74257278-74257279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181717579	chr12:74257289-74257290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76572340	chr12:74257328-74257329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562445012	chr12:74257339-74257340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147112215	chr12:74257406-74257407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541645681	chr12:74257418-74257419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561574795	chr12:74257432-74257433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111755252	chr12:74257463-74257464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73170230	chr12:74257465-74257466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544861304	chr12:74257486-74257487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185453667	chr12:74257495-74257496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550111157	chr12:74257503-74257504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542229926	chr12:74257530-74257531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148099991	chr12:74257535-74257536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562393834	chr12:74257571-74257572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375144846	chr12:74257598-74257599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35876440	chr12:74257603-74257604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535913505	chr12:74257638-74257639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141827761	chr12:74257762-74257763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566309340	chr12:74257778-74257779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73351605	chr12:74257779-74257780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150649598	chr12:74257809-74257810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578161279	chr12:74257814-74257815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369200451	chr12:74257882-74257883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139737281	chr12:74257913-74257914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556097756	chr12:74257914-74257915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374271744	chr12:74257940-74257941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115856828	chr12:74257976-74257977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74104337	chr12:74258013-74258014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561440456	chr12:74258095-74258096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527533228	chr12:74258149-74258150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12313928	chr12:74258219-74258220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564234901	chr12:74258241-74258242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11179824	chr12:74258265-74258266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549927720	chr12:74258266-74258267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188488518	chr12:74258268-74258269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529287897	chr12:74258307-74258308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111819341	chr12:74258342-74258343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146229553	chr12:74258434-74258435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566175136	chr12:74258584-74258585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535231826	chr12:74258593-74258594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551910040	chr12:74258617-74258618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78173266	chr12:74258682-74258683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74257000-74258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:74257000-74258000	Enhancers	NHEK	skin
3	chr12:74257200-74257600	Enhancers	HSMM	muscle
4	chr12:74257200-74258000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:74257200-74258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:74257200-74258000	Enhancers	HMEC	breast
7	chr12:74257200-74258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:74257200-74258200	Enhancers	HUVEC	blood vessel
9	chr12:74257200-74258200	Enhancers	NH-A	brain
10	chr12:74257400-74257800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:74257400-74258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:74258000-74260800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:74258200-74260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:74260800-74261200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:74260800-74261400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:74265000-74265600	Enhancers	Brain Substantia Nigra	brain
17	chr12:74265800-74266400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:74285000-74285800	Enhancers	Fetal Intestine Small	intestine
19	chr12:74285600-74286000	Enhancers	A549	lung
20	chr12:74286000-74296400	Weak transcription	A549	lung
21	chr12:74286200-74286600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:74296400-74297000	Enhancers	A549	lung

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