Variant report

Variant	esv2422199
Chromosome Location	chr14:45032791-45108866
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr14:45104768-45104769	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:45068065-45068301	HepG2	liver:	n/a	chr14:45068217-45068228
3	CEBPB	chr14:45084848-45085132	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:45068081-45068271	IMR90	lung:	n/a	chr14:45068217-45068228
5	CEBPB	chr14:45069016-45069216	HepG2	liver:	n/a	chr14:45069166-45069177
6	CEBPB	chr14:45081026-45081565	A549	lung:	n/a	chr14:45081396-45081407
7	CEBPB	chr14:45080960-45081587	MCF-7	breast:	n/a	chr14:45081396-45081407
8	CEBPB	chr14:45081151-45081578	HepG2	liver:	n/a	chr14:45081396-45081407
9	CEBPB	chr14:45072032-45072237	HepG2	liver:	n/a	chr14:45072112-45072125 chr14:45072114-45072125 chr14:45072112-45072125 chr14:45072112-45072123 chr14:45072112-45072125
10	CEBPB	chr14:45080999-45081511	Hela-S3	cervix:	n/a	chr14:45081396-45081407
11	CEBPB	chr14:45080996-45081524	ECC-1	luminal epithelium:	n/a	chr14:45081396-45081407
12	CEBPB	chr14:45081293-45081535	H1-hESC	embryonic stem cell:	n/a	chr14:45081396-45081407
13	CEBPB	chr14:45081036-45081549	IMR90	lung:	n/a	chr14:45081396-45081407
14	CEBPB	chr14:45089415-45090042	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr14:45080949-45081564	ECC-1	luminal epithelium:	n/a	chr14:45081396-45081407
16	CEBPB	chr14:45082337-45082720	MCF-7	breast:	n/a	n/a
17	CEBPB	chr14:45080994-45081627	MCF-7	breast:	n/a	chr14:45081396-45081407
18	CTCF	chr14:45049000-45049150	HepG2	liver:	n/a	n/a
19	CTCF	chr14:45036508-45036578	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr14:45048988-45049021	HepG2	liver:	n/a	n/a
21	CTCF	chr14:45036555-45036633	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr14:45058420-45058570	Caco-2	colon:	n/a	n/a
23	CTCF	chr14:45049874-45049931	LNCaP	prostate:	n/a	n/a
24	CTCF	chr14:45087020-45087170	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr14:45078071-45078098	HUVEC	blood vessel:	n/a	n/a
26	E2F4	chr14:45034103-45034296	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr14:45097004-45097156	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr14:45084633-45084738	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr14:45105380-45105503	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr14:45056095-45056624	ECC-1	luminal epithelium:	n/a	chr14:45056204-45056214
31	EP300	chr14:45064211-45064569	MCF-7	breast:	n/a	n/a
32	EP300	chr14:45082308-45083028	ECC-1	luminal epithelium:	n/a	chr14:45082562-45082572
33	EP300	chr14:45089056-45090307	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr14:45075586-45076324	ECC-1	luminal epithelium:	n/a	n/a
35	EP300	chr14:45075539-45076476	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr14:45082253-45082898	MCF-7	breast:	n/a	chr14:45082562-45082572
37	EP300	chr14:45089183-45090234	ECC-1	luminal epithelium:	n/a	n/a
38	EP300	chr14:45081986-45083142	ECC-1	luminal epithelium:	n/a	chr14:45082562-45082572
39	EP300	chr14:45055866-45056769	ECC-1	luminal epithelium:	n/a	chr14:45056204-45056214
40	ESR1	chr14:45089232-45090148	ECC-1	luminal epithelium:	n/a	n/a
41	ESR1	chr14:45104746-45105104	ECC-1	luminal epithelium:	n/a	chr14:45104979-45104996
42	ESR1	chr14:45056240-45056456	ECC-1	luminal epithelium:	n/a	n/a
43	ESR1	chr14:45104857-45105097	ECC-1	luminal epithelium:	n/a	chr14:45104979-45104996
44	ESR1	chr14:45089239-45090210	ECC-1	luminal epithelium:	n/a	n/a
45	ESR1	chr14:45104721-45105222	ECC-1	luminal epithelium:	n/a	chr14:45104979-45104996
46	ESR1	chr14:45104713-45105120	ECC-1	luminal epithelium:	n/a	chr14:45104979-45104996
47	ESR1	chr14:45089341-45090052	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr14:45089334-45090134	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr14:45056101-45056405	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr14:45089325-45090143	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45071625-45071675	HNPCEpiC	eye:	n/a
2	chr14:45071625-45071675	HCF	heart:	n/a
3	chr14:45071625-45071675	MCF-7	breast:	n/a
4	chr14:45071625-45071675	HUVEC	blood vessel:	n/a
5	chr14:45071625-45071675	AG10803	skin:	n/a
6	chr14:45071625-45071675	GM12891	blood:	n/a
7	chr14:45071625-45071675	HepG2	liver:	n/a
8	chr14:45071625-45071675	RPTEC	kidney:	n/a
9	chr14:45071625-45071675	HL-60	blood:	n/a
10	chr14:45071625-45071675	PFSK-1	brain:	n/a
11	chr14:45071625-45071675	BE2_C	brain:	n/a
12	chr14:45071625-45071675	PrEC	prostate:	n/a
13	chr14:45071625-45071675	PANC-1	pancreas:	n/a
14	chr14:45071625-45071675	NT2-D1	testis:	n/a
15	chr14:45071625-45071675	NB4	blood:	n/a
16	chr14:45071625-45071675	HRE	kidney:	n/a
17	chr14:45071625-45071675	GM12878	blood:	n/a
18	chr14:45071625-45071675	Hepatocyte	liver:	n/a
19	chr14:45071625-45071675	HCT-116	colon:	n/a
20	chr14:45071625-45071675	SK-N-SH_RA	brain:	n/a
21	chr14:45071625-45071675	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:45071625-45071675	AG09319	gingival:	n/a
23	chr14:45071625-45071675	A549	lung:	n/a
24	chr14:45071625-45071675	CMK	blood:	n/a
25	chr14:45071625-45071675	HEK293	kidney:	embryo
26	chr14:45071625-45071675	U87	brain:	n/a
27	chr14:45071625-45071675	AoSMC	blood vessel:	n/a
28	chr14:45071625-45071675	HRPEpiC	eye:	n/a
29	chr14:45071625-45071675	SK-N-MC	brain:	n/a
30	chr14:45071625-45071675	SK-N-SH	brain:	n/a
31	chr14:45071625-45071675	AG04449	skin:	fetal
32	chr14:45071625-45071675	HMEC	breast:	n/a
33	chr14:45071625-45071675	Jurkat	blood:	n/a
34	chr14:45071625-45071675	IMR90	lung:	fetal
35	chr14:45071625-45071675	HAEpiC	amniotic membrane:	n/a
36	chr14:45071625-45071675	NHDF-neo	bronchial:	n/a
37	chr14:45071625-45071675	SKMC	muscle:	n/a
38	chr14:45071625-45071675	HIPEpiC	eye:	n/a
39	chr14:45071625-45071675	Hela-S3	cervix:	n/a
40	chr14:45071625-45071675	HCPEpiC	choroid plexus:	n/a
41	chr14:45071625-45071675	ProgFib	skin:	n/a
42	chr14:45071625-45071675	LNCaP	prostate:	n/a
43	chr14:45071625-45071675	AG04450	lung:	fetal
44	chr14:45071625-45071675	BJ	skin:	n/a
45	chr14:45071625-45071675	Caco-2	colon:	n/a
46	chr14:45071625-45071675	HEEpiC	esophagus:	n/a
47	chr14:45071625-45071675	ECC-1	luminal epithelium:	n/a
48	chr14:45071625-45071675	AG09309	skin:	n/a
49	chr14:45071625-45071675	HRCEpiC	kidney:	n/a
50	chr14:45071625-45071675	SAEC	small airway:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
2	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:
3	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
4	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
5	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
6	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238501	TF binding region
ENSG00000238501	CpG island

Extended variants
information (count: 752 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570383877	chr14:45033813-45033814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560061765	chr14:45033844-45033845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554627214	chr14:45033899-45033900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537607143	chr14:45033927-45033928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1959362	chr14:45033932-45033933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115279903	chr14:45033943-45033944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534414503	chr14:45033963-45033964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145182246	chr14:45033964-45033965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577547922	chr14:45034000-45034001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12895800	chr14:45034007-45034008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17115306	chr14:45034074-45034075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183111292	chr14:45034077-45034078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8020950	chr14:45034115-45034116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374192052	chr14:45034143-45034144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542367428	chr14:45034146-45034147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371530824	chr14:45034155-45034156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532739488	chr14:45034163-45034164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17115308	chr14:45034840-45034841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183620336	chr14:45034846-45034847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534058325	chr14:45034892-45034893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113627349	chr14:45034894-45034895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535252532	chr14:45034898-45034899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116024439	chr14:45034915-45034916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547516418	chr14:45034948-45034949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1572390	chr14:45034977-45034978	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538208308	chr14:45034994-45034995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1959363	chr14:45035016-45035017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17549139	chr14:45035027-45035028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536133765	chr14:45035103-45035104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115555761	chr14:45035113-45035114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572930223	chr14:45035152-45035153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373891277	chr14:45035167-45035168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140577560	chr14:45035177-45035178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559554423	chr14:45035210-45035211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150417638	chr14:45035230-45035231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114500273	chr14:45035266-45035267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80128209	chr14:45035268-45035269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72669158	chr14:45035270-45035271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17549160	chr14:45035283-45035284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572696058	chr14:45035333-45035334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558371122	chr14:45035434-45035435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60474700	chr14:45035461-45035462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs61196629	chr14:45035462-45035463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565547870	chr14:45035463-45035464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570965763	chr14:45035506-45035507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538345071	chr14:45035511-45035512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138226411	chr14:45035521-45035522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568498115	chr14:45035526-45035527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536273593	chr14:45035571-45035572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554539203	chr14:45035574-45035575	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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45033800-45034200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:45034800-45036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:45055400-45056600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:45071600-45071800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:45071800-45072200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:45071800-45072200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:45071800-45072600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:45072000-45072600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:45072200-45072400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:45078600-45079600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:45078800-45079600	Enhancers	Fetal Muscle Leg	muscle
12	chr14:45079200-45079600	Enhancers	NHDF-Ad	bronchial
13	chr14:45085600-45087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:45087000-45089600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:45088800-45090200	Enhancers	Fetal Kidney	kidney
16	chr14:45089000-45090000	Enhancers	Ovary	ovary
17	chr14:45089000-45090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:45089200-45091000	Enhancers	Fetal Heart	heart
19	chr14:45089600-45090000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:45089600-45090200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:45090000-45091000	Weak transcription	Ovary	ovary
22	chr14:45091000-45091600	Enhancers	Ovary	ovary
23	chr14:45091600-45094200	Weak transcription	Ovary	ovary
24	chr14:45094200-45094800	Enhancers	Ovary	ovary
25	chr14:45103800-45106800	Enhancers	Fetal Lung	lung
26	chr14:45104000-45104200	Enhancers	Ovary	ovary
27	chr14:45104200-45108000	Weak transcription	Ovary	ovary
28	chr14:45106800-45108400	Weak transcription	Fetal Lung	lung
29	chr14:45107800-45109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:45108000-45109200	Enhancers	Ovary	ovary
31	chr14:45108400-45109000	Enhancers	Fetal Lung	lung
32	chr14:45108600-45109000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr14:45108600-45109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:45108600-45109800	Enhancers	Fetal Kidney	kidney

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