Variant report

Variant	nsv1038324
Chromosome Location	chr14:43178203-43277632
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	chr14:43186035-43186373	HepG2	liver:	n/a	chr14:43186198-43186209
2	CEBPB	chr14:43183727-43184112	A549	lung:	n/a	n/a
3	CEBPB	chr14:43203747-43204000	HepG2	liver:	n/a	chr14:43203901-43203912 chr14:43203897-43203910 chr14:43203864-43203875 chr14:43203898-43203909
4	CEBPB	chr14:43220099-43220482	Hela-S3	cervix:	n/a	chr14:43220319-43220332 chr14:43220319-43220330
5	CEBPB	chr14:43245056-43245279	HepG2	liver:	n/a	chr14:43245175-43245186
6	CEBPB	chr14:43220007-43220460	MCF-7	breast:	n/a	chr14:43220319-43220332 chr14:43220319-43220330
7	CEBPB	chr14:43275981-43276308	HepG2	liver:	n/a	chr14:43276132-43276143
8	CEBPB	chr14:43276075-43276273	K562	blood:	n/a	chr14:43276132-43276143
9	CEBPB	chr14:43183728-43184158	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:43269970-43270262	HepG2	liver:	n/a	chr14:43270105-43270116
11	CEBPB	chr14:43183739-43184211	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:43257346-43257491	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:43275969-43276270	A549	lung:	n/a	chr14:43276132-43276143
14	CEBPB	chr14:43275951-43276432	IMR90	lung:	n/a	chr14:43276132-43276143
15	CEBPB	chr14:43200940-43201437	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:43220078-43220475	MCF-7	breast:	n/a	chr14:43220319-43220332 chr14:43220319-43220330
17	CTCF	chr14:43188880-43188978	LNCaP	prostate:	n/a	n/a
18	CTCF	chr14:43277060-43277210	GM12872	blood:	n/a	n/a
19	CTCF	chr14:43188700-43188850	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:43268521-43268549	GM13976	blood:	n/a	n/a
21	CTCF	chr14:43188871-43189003	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:43260180-43260330	HepG2	liver:	n/a	n/a
23	CTCF	chr14:43258180-43258330	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:43227666-43227783	GM20000	blood:	n/a	n/a
25	CTCF	chr14:43211113-43211145	Lung_OC	lung:	n/a	n/a
26	E2F4	chr14:43261321-43261490	MCF10A-Er-Src	breast:	n/a	chr14:43261396-43261405
27	E2F4	chr14:43246172-43246333	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr14:43203493-43203689	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr14:43253228-43253451	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr14:43184358-43184700	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr14:43183605-43183805	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr14:43248036-43248623	MCF10A-Er-Src	breast:	n/a	n/a
33	EBF1	chr14:43248482-43248598	GM12878	blood:	n/a	n/a
34	FAM48A	chr14:43237843-43237968	GM12878	blood:	n/a	n/a
35	FAM48A	chr14:43251260-43251455	GM12878	blood:	n/a	n/a
36	FOS	chr14:43184539-43184951	HUVEC	blood vessel:	n/a	chr14:43184706-43184717 chr14:43184742-43184753
37	FOS	chr14:43204081-43204539	HUVEC	blood vessel:	n/a	chr14:43204218-43204229 chr14:43204220-43204228
38	FOS	chr14:43184531-43184944	MCF10A-Er-Src	breast:	n/a	chr14:43184706-43184717 chr14:43184742-43184753
39	FOS	chr14:43184544-43184906	MCF10A-Er-Src	breast:	n/a	chr14:43184706-43184717 chr14:43184742-43184753
40	FOS	chr14:43204179-43204329	MCF10A-Er-Src	breast:	n/a	chr14:43204218-43204229 chr14:43204220-43204228
41	FOS	chr14:43248139-43248638	MCF10A-Er-Src	breast:	n/a	chr14:43248455-43248464 chr14:43248453-43248465 chr14:43248455-43248463 chr14:43248456-43248463 chr14:43248454-43248463
42	FOS	chr14:43248154-43248648	MCF10A-Er-Src	breast:	n/a	chr14:43248455-43248464 chr14:43248453-43248465 chr14:43248455-43248463 chr14:43248456-43248463 chr14:43248454-43248463
43	FOS	chr14:43248166-43248706	MCF10A-Er-Src	breast:	n/a	chr14:43248455-43248464 chr14:43248453-43248465 chr14:43248455-43248463 chr14:43248456-43248463 chr14:43248454-43248463
44	FOS	chr14:43276015-43276284	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr14:43184543-43184907	MCF10A-Er-Src	breast:	n/a	chr14:43184706-43184717 chr14:43184742-43184753
46	FOS	chr14:43184309-43184925	MCF10A-Er-Src	breast:	n/a	chr14:43184706-43184717 chr14:43184742-43184753
47	FOS	chr14:43276048-43276330	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:43276007-43276413	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:43248102-43248675	MCF10A-Er-Src	breast:	n/a	chr14:43248455-43248464 chr14:43248453-43248465 chr14:43248455-43248463 chr14:43248456-43248463 chr14:43248454-43248463
50	FOXA1	chr14:43190377-43190620	T-47D	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:43277317-43277367	HAEpiC	amniotic membrane:	n/a
2	chr14:43277317-43277367	HAEpiC	amniotic membrane:	n/a
3	chr14:43277317-43277367	LNCaP	prostate:	n/a
4	chr14:43277317-43277367	NH-A	brain:	n/a
5	chr14:43277317-43277367	HUVEC	blood vessel:	n/a
6	chr14:43277317-43277367	NB4	blood:	n/a
7	chr14:43277317-43277367	AG04450	lung:	fetal
8	chr14:43277317-43277367	BE2_C	brain:	n/a
9	chr14:43277317-43277367	HepG2	liver:	n/a
10	chr14:43277317-43277367	AG09319	gingival:	n/a
11	chr14:43277317-43277367	HCM	heart:	n/a
12	chr14:43277317-43277367	SK-N-SH_RA	brain:	n/a
13	chr14:43277317-43277367	GM12878	blood:	n/a
14	chr14:43277317-43277367	SK-N-MC	brain:	n/a
15	chr14:43277317-43277367	AG10803	skin:	n/a
16	chr14:43277317-43277367	GM12891	blood:	n/a
17	chr14:43277317-43277367	NHDF-neo	bronchial:	n/a
18	chr14:43277317-43277367	GM12892	blood:	n/a
19	chr14:43277317-43277367	BJ	skin:	n/a
20	chr14:43277317-43277367	HCT-116	colon:	n/a
21	chr14:43277317-43277367	Hela-S3	cervix:	n/a
22	chr14:43277317-43277367	HRCEpiC	kidney:	n/a
23	chr14:43277317-43277367	ovcar-3	ovarian:	n/a
24	chr14:43277317-43277367	MCF-7	breast:	n/a
25	chr14:43277317-43277367	AoSMC	blood vessel:	n/a
26	chr14:43277317-43277367	SAEC	small airway:	n/a
27	chr14:43277317-43277367	HMEC	breast:	n/a
28	chr14:43277317-43277367	HCF	heart:	n/a
29	chr14:43277317-43277367	HEEpiC	esophagus:	n/a
30	chr14:43277317-43277367	H1-hESC	embryonic stem cell:	embryo
31	chr14:43277317-43277367	MCF10A-Er-Src	breast:	n/a
32	chr14:43277317-43277367	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:43277317-43277367	CMK	blood:	n/a
34	chr14:43277317-43277367	HEK293	kidney:	embryo
35	chr14:43277317-43277367	SKMC	muscle:	n/a
36	chr14:43277317-43277367	T-47D	breast:	n/a
37	chr14:43277317-43277367	A549	lung:	n/a
38	chr14:43277317-43277367	Jurkat	blood:	n/a
39	chr14:43277317-43277367	GM19239	blood:	n/a
40	chr14:43277317-43277367	Hepatocyte	liver:	n/a
41	chr14:43277317-43277367	U87	brain:	n/a
42	chr14:43277317-43277367	ECC-1	luminal epithelium:	n/a
43	chr14:43277317-43277367	HL-60	blood:	n/a
44	chr14:43277317-43277367	AG04449	skin:	fetal
45	chr14:43277317-43277367	PFSK-1	brain:	n/a
46	chr14:43277317-43277367	Caco-2	colon:	n/a
47	chr14:43277317-43277367	HNPCEpiC	eye:	n/a
48	chr14:43277317-43277367	PrEC	prostate:	n/a
49	chr14:43277317-43277367	PANC-1	pancreas:	n/a
50	chr14:43277317-43277367	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:43199863..43201590-chr14:43205073..43207655,2	MCF-7	breast:
2	chr14:43258257..43260320-chr6:32934540..32936791,2	MCF-7	breast:
3	chr14:43214694..43216920-chr14:43221221..43223715,2	MCF-7	breast:
4	chr14:43180662..43182425-chr14:43185874..43188790,2	MCF-7	breast:
5	chr14:43227995..43229990-chr14:43231177..43232780,2	MCF-7	breast:
6	chr14:43227995..43229990-chr14:43231177..43232780,2	MCF-7	breast:
7	chr14:43199863..43201590-chr14:43205073..43207655,2	MCF-7	breast:
8	chr14:43180662..43182425-chr14:43185874..43188790,2	MCF-7	breast:
9	chr14:43214694..43216920-chr14:43221221..43223715,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258934	TF binding region
ENSG00000258934	CpG island
ENSG00000204257	chromatin interactions
ENSG00000204256	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557717221	chr14:43184418-43184419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571460719	chr14:43184435-43184436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550783717	chr14:43184448-43184449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1630511	chr14:43184455-43184456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530434118	chr14:43184486-43184487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369819312	chr14:43184507-43184508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74047792	chr14:43184509-43184510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567151639	chr14:43184510-43184511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35201686	chr14:43184519-43184520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552591837	chr14:43184576-43184577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570975480	chr14:43184589-43184590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538315929	chr14:43184616-43184617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10151562	chr14:43184629-43184630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1712697	chr14:43184636-43184637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74484414	chr14:43184668-43184669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554592405	chr14:43184678-43184679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556480602	chr14:43184687-43184688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111475235	chr14:43184726-43184727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573077134	chr14:43184731-43184732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563170556	chr14:43184744-43184745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74047793	chr14:43184760-43184761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140397350	chr14:43184775-43184776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190646363	chr14:43184847-43184848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1698521	chr14:43184855-43184856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372714427	chr14:43184862-43184863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530277132	chr14:43184888-43184889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181128137	chr14:43184902-43184903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185619553	chr14:43184925-43184926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149954638	chr14:43184961-43184962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61992799	chr14:43185084-43185085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552627524	chr14:43185097-43185098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200827224	chr14:43185138-43185139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570814692	chr14:43185196-43185197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531725747	chr14:43185234-43185235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550342550	chr14:43185236-43185237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199526238	chr14:43185252-43185253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146438065	chr14:43185277-43185278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1698520	chr14:43185366-43185367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189546882	chr14:43185387-43185388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566675324	chr14:43185397-43185398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11845445	chr14:43203800-43203801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141761184	chr14:43203867-43203868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35289903	chr14:43203886-43203887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542387315	chr14:43203902-43203903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10145477	chr14:43203919-43203920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148452260	chr14:43203954-43203955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371362423	chr14:43203955-43203956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199924278	chr14:43203956-43203957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528298342	chr14:43203981-43203982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554092442	chr14:43203997-43203998	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43184400-43184600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:43184400-43185000	Enhancers	NHEK	skin
3	chr14:43184400-43185400	Enhancers	HUVEC	blood vessel
4	chr14:43184600-43185000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:43203800-43204600	Enhancers	HUVEC	blood vessel
6	chr14:43229600-43231600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:43254400-43254800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr14:43273400-43274000	Enhancers	Fetal Lung	lung
9	chr14:43273800-43274800	Enhancers	Brain Germinal Matrix	brain
10	chr14:43274000-43275800	Weak transcription	Fetal Lung	lung
11	chr14:43275600-43276800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:43275800-43276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:43275800-43276800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:43275800-43277400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:43275800-43277400	Enhancers	Fetal Lung	lung
16	chr14:43276000-43276800	Enhancers	Colon Smooth Muscle	Colon

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