Variant report

Variant	esv2762983
Chromosome Location	chr12:60735475-60767081
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	chr12:60748560-60748789	A549	lung:	n/a	chr12:60748662-60748673
2	CEBPB	chr12:60747990-60748294	Hela-S3	cervix:	n/a	chr12:60748131-60748142
3	CEBPB	chr12:60747965-60748281	IMR90	lung:	n/a	chr12:60748131-60748142
4	CEBPB	chr12:60745807-60745900	K562	blood:	n/a	n/a
5	CEBPB	chr12:60747999-60748350	MCF-7	breast:	n/a	chr12:60748131-60748142
6	CEBPB	chr12:60745694-60746005	IMR90	lung:	n/a	n/a
7	CEBPB	chr12:60751445-60751625	A549	lung:	n/a	n/a
8	CEBPB	chr12:60747972-60748293	A549	lung:	n/a	chr12:60748131-60748142
9	CEBPB	chr12:60747969-60748324	HepG2	liver:	n/a	chr12:60748131-60748142
10	CEBPB	chr12:60745235-60745979	HepG2	liver:	n/a	chr12:60745373-60745384
11	CEBPB	chr12:60748032-60748232	K562	blood:	n/a	chr12:60748131-60748142
12	CEBPB	chr12:60745243-60745908	A549	lung:	n/a	chr12:60745373-60745384
13	CEBPB	chr12:60745247-60745463	IMR90	lung:	n/a	chr12:60745373-60745384
14	CEBPB	chr12:60748119-60748245	H1-hESC	embryonic stem cell:	n/a	chr12:60748131-60748142
15	CEBPB	chr12:60748638-60748811	HepG2	liver:	n/a	chr12:60748662-60748673
16	CTCF	chr12:60736280-60736430	HRE	kidney:	n/a	n/a
17	CTCF	chr12:60736360-60736510	AG04449	skin:	n/a	n/a
18	CTCF	chr12:60736260-60736410	A549	lung:	n/a	n/a
19	CTCF	chr12:60736280-60736430	AG10803	skin:	n/a	n/a
20	CTCF	chr12:60736220-60736370	HMEC	breast:	n/a	n/a
21	CTCF	chr12:60736240-60736390	HMEC	breast:	n/a	n/a
22	CTCF	chr12:60736280-60736430	AG04449	skin:	n/a	n/a
23	CTCF	chr12:60742439-60742494	GM13976	blood:	n/a	n/a
24	CTCF	chr12:60736360-60736510	AG04450	lung:	n/a	n/a
25	CUX1	chr12:60765369-60765546	K562	blood:	n/a	n/a
26	EBF1	chr12:60749322-60749359	GM12878	blood:	n/a	n/a
27	EP300	chr12:60748127-60748148	Hela-S3	cervix:	n/a	chr12:60748128-60748142
28	FOS	chr12:60739292-60739548	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr12:60739244-60739569	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr12:60739289-60739545	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr12:60739244-60739584	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr12:60739257-60739424	HUVEC	blood vessel:	n/a	n/a
33	FOSL2	chr12:60739276-60739633	MCF-7	breast:	n/a	n/a
34	JUN	chr12:60748649-60748666	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUN	chr12:60737526-60737665	K562	blood:	n/a	n/a
36	JUND	chr12:60739268-60739627	MCF-7	breast:	n/a	chr12:60739397-60739408
37	JUND	chr12:60739347-60739438	HepG2	liver:	n/a	chr12:60739397-60739408
38	MAFF	chr12:60739332-60739460	HepG2	liver:	n/a	chr12:60739376-60739394
39	MAFK	chr12:60763175-60763420	HepG2	liver:	n/a	n/a
40	MAFK	chr12:60739361-60739514	HepG2	liver:	n/a	chr12:60739378-60739393
41	MAFK	chr12:60739253-60739528	HepG2	liver:	n/a	chr12:60739378-60739393
42	MAFK	chr12:60763131-60763444	IMR90	lung:	n/a	n/a
43	MXI1	chr12:60759842-60759928	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr12:60750985-60751056	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr12:60744596-60744693	MCF-7	breast:	n/a	n/a
46	NRF1	chr12:60752818-60752868	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:60744598-60744676	MCF-7	breast:	n/a	n/a
48	POLR2A	chr12:60745425-60745449	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:60759901-60759980	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr12:60746137-60746198	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:60709731..60712720-chr12:60740536..60742058,2	K562	blood:
2	chr1:10674613..10675133-chr12:60739009..60739528,2	MCF-7	breast:
3	chr12:60712942..60715353-chr12:60755743..60757323,2	MCF-7	breast:
4	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:
5	chr12:60752778..60755096-chr12:60757481..60759676,2	K562	blood:
6	chr12:60731984..60734380-chr12:60739719..60741261,2	K562	blood:
7	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:
8	chr12:60733477..60735861-chr12:60737508..60740002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251822	TF binding region
ENSG00000252607	TF binding region
ENSG00000252607	chromatin interactions
ENSG00000251822	chromatin interactions

Extended variants
information (count: 618 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:618 , 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	rs376608471	chr12:60735774-60735775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564252609	chr12:60735778-60735779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566343538	chr12:60735996-60735997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1504459	chr12:60736050-60736051	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs536922756	chr12:60736110-60736111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549262248	chr12:60736142-60736143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs569017702	chr12:60736156-60736157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141739502	chr12:60736282-60736283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574129844	chr12:60736294-60736295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs557865012	chr12:60736310-60736311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs368527541	chr12:60736325-60736326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs191618866	chr12:60736352-60736353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11173414	chr12:60736377-60736378	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570275886	chr12:60736404-60736405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116542097	chr12:60736447-60736448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574309307	chr12:60736471-60736472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs145401022	chr12:60736472-60736473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375116700	chr12:60736480-60736481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539553718	chr12:60736481-60736482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556854443	chr12:60736490-60736491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553002525	chr12:60736531-60736532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572997101	chr12:60736536-60736537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs74776180	chr12:60736570-60736571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs60798845	chr12:60736572-60736573	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17606011	chr12:60736695-60736696	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115737086	chr12:60736735-60736736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs148606852	chr12:60737540-60737541	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536895048	chr12:60737582-60737583	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1394328	chr12:60737602-60737603	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141595346	chr12:60737610-60737611	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538977752	chr12:60737611-60737612	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200992644	chr12:60737626-60737627	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187310870	chr12:60737637-60737638	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1394329	chr12:60737656-60737657	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192156719	chr12:60737657-60737658	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567100408	chr12:60737666-60737667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150902883	chr12:60737744-60737745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573652641	chr12:60737748-60737749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1394330	chr12:60737792-60737793	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562530004	chr12:60737875-60737876	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139383505	chr12:60738007-60738008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551410950	chr12:60738019-60738020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565132828	chr12:60738027-60738028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527725274	chr12:60738039-60738040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114055227	chr12:60738075-60738076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567786506	chr12:60738084-60738085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536331288	chr12:60738085-60738086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183188523	chr12:60738103-60738104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1604867	chr12:60738191-60738192	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539175896	chr12:60738238-60738239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60739200-60739600	Enhancers	NHEK	skin
2	chr12:60739200-60740000	Enhancers	HMEC	breast
3	chr12:60739400-60740000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:60739800-60740000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:60740000-60743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60742000-60742800	Enhancers	Fetal Heart	heart
7	chr12:60743000-60743200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:60743000-60743400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:60743800-60744000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:60750000-60750400	Enhancers	Fetal Intestine Large	intestine
11	chr12:60750400-60750800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:60750800-60753000	Enhancers	Fetal Intestine Large	intestine
13	chr12:60756800-60757600	Enhancers	Fetal Heart	heart
14	chr12:60763600-60763800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:60763800-60771600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:60766600-60767200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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