Variant report

Variant	esv2829995
Chromosome Location	chr14:44565011-44606505
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	chr14:44595881-44596093	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:44605796-44606154	Hela-S3	cervix:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
3	CEBPB	chr14:44572581-44572713	HepG2	liver:	n/a	chr14:44572646-44572657 chr14:44572645-44572658
4	CEBPB	chr14:44605865-44606139	A549	lung:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
5	CEBPB	chr14:44599875-44600120	HepG2	liver:	n/a	chr14:44599949-44599960
6	CEBPB	chr14:44605817-44606143	HepG2	liver:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
7	CEBPB	chr14:44599593-44600126	A549	lung:	n/a	chr14:44599949-44599960
8	CEBPB	chr14:44582232-44582510	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:44595859-44595978	A549	lung:	n/a	n/a
10	CTCF	chr14:44573591-44573608	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:44587140-44587290	HRE	kidney:	n/a	n/a
12	CTCF	chr14:44580118-44580169	Kidney_OC	kidney:	n/a	n/a
13	E2F4	chr14:44605775-44606095	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr14:44588893-44589033	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:44577798-44578195	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr14:44577801-44578191	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:44605764-44606100	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:44605739-44606100	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:44581771-44582694	MCF10A-Er-Src	breast:	n/a	chr14:44582484-44582496 chr14:44582422-44582430 chr14:44582566-44582578 chr14:44582421-44582431 chr14:44582421-44582431 chr14:44582571-44582578 chr14:44582421-44582431 chr14:44582568-44582576 chr14:44582569-44582580 chr14:44582568-44582575 chr14:44582567-44582576 chr14:44582567-44582577
20	FOS	chr14:44581933-44582699	MCF10A-Er-Src	breast:	n/a	chr14:44582421-44582431 chr14:44582421-44582431 chr14:44582484-44582496 chr14:44582566-44582578 chr14:44582568-44582576 chr14:44582567-44582576 chr14:44582422-44582430 chr14:44582571-44582578 chr14:44582569-44582580 chr14:44582568-44582575 chr14:44582421-44582431 chr14:44582567-44582577
21	FOS	chr14:44577772-44578229	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:44581948-44582632	MCF10A-Er-Src	breast:	n/a	chr14:44582421-44582431 chr14:44582421-44582431 chr14:44582484-44582496 chr14:44582566-44582578 chr14:44582568-44582576 chr14:44582567-44582576 chr14:44582422-44582430 chr14:44582571-44582578 chr14:44582569-44582580 chr14:44582568-44582575 chr14:44582421-44582431 chr14:44582567-44582577
23	FOS	chr14:44581990-44582644	MCF10A-Er-Src	breast:	n/a	chr14:44582421-44582431 chr14:44582421-44582431 chr14:44582484-44582496 chr14:44582566-44582578 chr14:44582568-44582576 chr14:44582567-44582576 chr14:44582422-44582430 chr14:44582571-44582578 chr14:44582569-44582580 chr14:44582568-44582575 chr14:44582421-44582431 chr14:44582567-44582577
24	FOS	chr14:44577771-44578200	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr14:44576523-44576584	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr14:44569513-44569639	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr14:44605740-44606135	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr14:44605763-44606122	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr14:44585584-44585911	T-47D	breast:	n/a	n/a
30	FOXA1	chr14:44585609-44585974	T-47D	breast:	n/a	n/a
31	GATA3	chr14:44585492-44585877	T-47D	breast:	n/a	n/a
32	GATA3	chr14:44585669-44585771	MCF-7	breast:	n/a	n/a
33	GATA3	chr14:44585541-44585938	T-47D	breast:	n/a	n/a
34	GATA3	chr14:44580787-44581142	MCF-7	breast:	n/a	chr14:44580835-44580846
35	JUND	chr14:44582405-44582666	HepG2	liver:	n/a	chr14:44582421-44582431 chr14:44582421-44582431 chr14:44582484-44582496 chr14:44582566-44582578 chr14:44582566-44582577 chr14:44582568-44582576 chr14:44582567-44582576 chr14:44582422-44582430 chr14:44582571-44582578 chr14:44582569-44582580 chr14:44582568-44582575 chr14:44582421-44582431 chr14:44582567-44582577
36	MAFF	chr14:44573724-44573966	HepG2	liver:	n/a	chr14:44573838-44573856
37	MAFF	chr14:44590132-44590302	HepG2	liver:	n/a	chr14:44590175-44590193 chr14:44590156-44590174
38	MAFF	chr14:44581994-44582118	HepG2	liver:	n/a	chr14:44582081-44582095
39	MAFK	chr14:44582445-44582731	IMR90	lung:	n/a	chr14:44582561-44582576 chr14:44582566-44582575
40	MAFK	chr14:44582434-44582732	HepG2	liver:	n/a	chr14:44582561-44582576 chr14:44582566-44582575
41	MAFK	chr14:44590040-44590235	HepG2	liver:	n/a	n/a
42	MAFK	chr14:44582413-44582740	HepG2	liver:	n/a	chr14:44582561-44582576 chr14:44582566-44582575
43	MAFK	chr14:44573668-44573985	HepG2	liver:	n/a	chr14:44573814-44573829 chr14:44573839-44573854
44	MAFK	chr14:44590049-44590328	HepG2	liver:	n/a	n/a
45	MAFK	chr14:44582011-44582211	HepG2	liver:	n/a	chr14:44582081-44582095 chr14:44582078-44582098 chr14:44582080-44582096
46	MAFK	chr14:44593660-44593851	HepG2	liver:	n/a	n/a
47	MAFK	chr14:44581010-44581129	HepG2	liver:	n/a	n/a
48	MAFK	chr14:44582007-44582212	HepG2	liver:	n/a	chr14:44582081-44582095 chr14:44582078-44582098 chr14:44582080-44582096
49	MAFK	chr14:44573737-44573976	HepG2	liver:	n/a	chr14:44573814-44573829 chr14:44573839-44573854
50	MYC	chr14:44588516-44588637	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
2	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
3	chr14:44569949..44570449-chr8:101630587..101631141,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259137	TF binding region
ENSG00000253740	chromatin interactions
ENSG00000174226	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:427 , 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	rs552657878	chr14:44569968-44569969	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs79315257	chr14:44569981-44569982	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545100169	chr14:44569983-44569984	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184472718	chr14:44570000-44570001	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575503892	chr14:44570023-44570024	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115014356	chr14:44570074-44570075	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs8013483	chr14:44570075-44570076	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577724858	chr14:44570120-44570121	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34448518	chr14:44570128-44570129	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540538581	chr14:44570170-44570171	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140500250	chr14:44570188-44570189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574560295	chr14:44570204-44570205	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559472459	chr14:44570220-44570221	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533183988	chr14:44570254-44570255	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543521572	chr14:44570314-44570315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551450900	chr14:44570319-44570320	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs36105441	chr14:44570342-44570343	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530913713	chr14:44570372-44570373	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34445616	chr14:44570379-44570380	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74823647	chr14:44572801-44572802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138977734	chr14:44572834-44572835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367590343	chr14:44572901-44572902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547403294	chr14:44572935-44572936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553351468	chr14:44572948-44572949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1955991	chr14:44572956-44572957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534228242	chr14:44572960-44572961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs988075	chr14:44572962-44572963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370739554	chr14:44572976-44572977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117900464	chr14:44572978-44572979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183238173	chr14:44572999-44573000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556701429	chr14:44573011-44573012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116337816	chr14:44573074-44573075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142039208	chr14:44573115-44573116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560660253	chr14:44573140-44573141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572706685	chr14:44573237-44573238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74048415	chr14:44573262-44573263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187224437	chr14:44573267-44573268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150862316	chr14:44573270-44573271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56233710	chr14:44573293-44573294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139233337	chr14:44573294-44573295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575955209	chr14:44573303-44573304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149563924	chr14:44573342-44573343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144587724	chr14:44573349-44573350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139781477	chr14:44573372-44573373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565796265	chr14:44573384-44573385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367629273	chr14:44573388-44573389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193167280	chr14:44573441-44573442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570891674	chr14:44573453-44573454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371891900	chr14:44573457-44573458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538320094	chr14:44573510-44573511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44572800-44575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:44573400-44573800	Enhancers	Gastric	stomach
3	chr14:44573600-44574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:44576400-44577000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:44577200-44578600	Enhancers	HMEC	breast
6	chr14:44577400-44578400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:44577400-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:44577600-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:44578000-44578400	Enhancers	NHEK	skin
10	chr14:44578400-44580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:44578800-44579200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:44582400-44583400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:44582800-44583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:44585400-44585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:44590600-44591000	Enhancers	HMEC	breast
16	chr14:44590800-44591400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:44605200-44605600	Active TSS	A549	lung
18	chr14:44606400-44606800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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