Variant report

Variant	esv2760347
Chromosome Location	chr14:43443334-43466780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:43463213-43463552	IMR90	lung:	n/a	n/a
2	CEBPB	chr14:43463151-43463644	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:43453208-43453525	HepG2	liver:	n/a	chr14:43453354-43453365 chr14:43453356-43453367
4	CEBPB	chr14:43460390-43460680	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:43460396-43460596	A549	lung:	n/a	n/a
6	CEBPB	chr14:43453278-43453537	IMR90	lung:	n/a	chr14:43453354-43453365 chr14:43453356-43453367
7	CEBPB	chr14:43450264-43450500	HepG2	liver:	n/a	chr14:43450398-43450407 chr14:43450397-43450408
8	CTCF	chr14:43463720-43463870	HPF	lung:	n/a	n/a
9	CTCF	chr14:43461220-43461370	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:43461260-43461410	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:43461240-43461390	RPTEC	kidney:	n/a	n/a
12	CTCF	chr14:43461280-43461430	RPTEC	kidney:	n/a	n/a
13	CTCF	chr14:43463700-43463850	HPF	lung:	n/a	n/a
14	CTCF	chr14:43463680-43463830	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr14:43463700-43463850	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr14:43463680-43463830	AG04449	skin:	n/a	n/a
17	CTCF	chr14:43463660-43463810	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr14:43463700-43463850	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr14:43463700-43463850	HMF	breast:	n/a	n/a
20	CTCF	chr14:43461280-43461430	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:43463768-43463833	Gliobla	brain:	n/a	n/a
22	CTCF	chr14:43461283-43461446	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:43463600-43463750	HAc	cerebellar:	n/a	n/a
24	CTCF	chr14:43461291-43461440	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:43461286-43461432	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:43463680-43463830	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:43461297-43461414	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:43463720-43463870	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr14:43462740-43462890	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:43463700-43463850	AG04450	lung:	n/a	n/a
31	CTCF	chr14:43461293-43461422	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:43463600-43463750	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr14:43461240-43461390	A549	lung:	n/a	n/a
34	CTCF	chr14:43462860-43463010	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:43463700-43463850	AG04449	skin:	n/a	n/a
36	CTCF	chr14:43463700-43463850	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr14:43461340-43461490	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr14:43461280-43461430	HepG2	liver:	n/a	n/a
39	CTCF	chr14:43463680-43463830	AG04450	lung:	n/a	n/a
40	CTCF	chr14:43461311-43461406	LNCaP	prostate:	n/a	n/a
41	CTCF	chr14:43455688-43455717	GM20000	blood:	n/a	n/a
42	CTCF	chr14:43460665-43460708	GM10248	blood:	n/a	n/a
43	CTCF	chr14:43463720-43463870	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr14:43459043-43459082	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:43461303-43461417	MCF-7	breast:	n/a	n/a
46	EGR1	chr14:43463297-43463701	MCF-7	breast:	n/a	n/a
47	FOS	chr14:43463210-43463680	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:43463251-43463614	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:43463163-43463684	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr14:43463180-43463649	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:43461882..43464212-chr3:67277792..67280418,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259047	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576373300	chr14:43453410-43453411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565728663	chr14:43453416-43453417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546017159	chr14:43453430-43453431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558223067	chr14:43453431-43453432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145508733	chr14:43453440-43453441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544425765	chr14:43453462-43453463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374543785	chr14:43453486-43453487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs6145321	chr14:43453499-43453500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562636278	chr14:43453527-43453528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs35788538	chr14:43453529-43453530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs150455639	chr14:43453531-43453532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374404157	chr14:43453533-43453534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563499140	chr14:43455691-43455692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554966989	chr14:43455700-43455701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs530074240	chr14:43455712-43455713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs80186827	chr14:43462229-43462230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558554619	chr14:43462236-43462237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76095219	chr14:43462246-43462247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185644037	chr14:43462279-43462280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538095930	chr14:43462292-43462293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4540978	chr14:43462299-43462300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11851553	chr14:43462319-43462320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533299228	chr14:43462320-43462321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116503869	chr14:43462324-43462325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573197794	chr14:43462356-43462357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115599867	chr14:43462374-43462375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564908017	chr14:43462392-43462393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563136662	chr14:43462397-43462398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77784674	chr14:43462403-43462404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546757077	chr14:43462432-43462433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556042280	chr14:43462522-43462523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71105496	chr14:43462537-43462538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530239396	chr14:43462538-43462539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562612360	chr14:43462539-43462540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529719812	chr14:43462548-43462549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397852075	chr14:43462553-43462554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565896745	chr14:43462562-43462563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535022530	chr14:43462563-43462564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369987493	chr14:43462571-43462572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552441537	chr14:43462639-43462640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570561480	chr14:43462644-43462645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10139713	chr14:43462646-43462647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190753574	chr14:43462664-43462665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567088370	chr14:43462708-43462709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10150604	chr14:43462715-43462716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535550585	chr14:43462728-43462729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142072042	chr14:43462748-43462749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555901150	chr14:43462757-43462758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540574595	chr14:43462771-43462772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569579435	chr14:43462780-43462781	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
Burkitt''s lymphoma	19759907	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43462200-43463600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:43462400-43463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:43462800-43464200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:43463600-43464000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:43464000-43464200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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