Variant report

Variant	nsv534569
Chromosome Location	chr20:14567155-14700099
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	ARID3A	chr20:14590214-14590575	HepG2	liver:	n/a	n/a
2	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
5	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
6	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
7	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
8	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14672674-14672924	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
11	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
13	CEBPB	chr20:14653868-14654331	A549	lung:	n/a	n/a
14	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
15	CEBPB	chr20:14666214-14666506	HepG2	liver:	n/a	chr20:14666339-14666352 chr20:14666339-14666350
16	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
17	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
18	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
19	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
21	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
22	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
23	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
24	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
25	CEBPB	chr20:14665408-14665556	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
28	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
29	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
30	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
31	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
32	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
33	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
34	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
35	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
36	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr20:14653831-14654181	A549	lung:	n/a	n/a
38	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
40	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
41	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
42	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
43	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
44	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr20:14653900-14654183	HepG2	liver:	n/a	n/a
47	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
48	CEBPB	chr20:14664747-14664910	HepG2	liver:	n/a	n/a
49	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
50	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
2	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:
3	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
4	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
5	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
6	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
7	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
2	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
3	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
4	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
5	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
6	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716
7	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
8	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
9	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
10	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
11	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714

Variant related genes	Relation type
MACROD2-IT1	TF binding region
ENSG00000125844	chromatin interactions
ENSG00000227927	chromatin interactions

Extended variants
information (count: 4142 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4142 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148801039	chr20:14567159-14567160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115519144	chr20:14567160-14567161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188670091	chr20:14567165-14567166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565389092	chr20:14567184-14567185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577308641	chr20:14567206-14567207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2224293	chr20:14567286-14567287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544818183	chr20:14567403-14567404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80259142	chr20:14567440-14567441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180896252	chr20:14567446-14567447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561100325	chr20:14567500-14567501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548919172	chr20:14567524-14567525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368254444	chr20:14567533-14567534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560672718	chr20:14567548-14567549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528096299	chr20:14567553-14567554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546319674	chr20:14567588-14567589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562267498	chr20:14567605-14567606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546093343	chr20:14567611-14567612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531273880	chr20:14567631-14567632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571316660	chr20:14567638-14567639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185797365	chr20:14567650-14567651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550343904	chr20:14567675-14567676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568728987	chr20:14567699-14567700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6042802	chr20:14567804-14567805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554852767	chr20:14567816-14567817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192370831	chr20:14567862-14567863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181994378	chr20:14567904-14567905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373681028	chr20:14567905-14567906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151248781	chr20:14567931-14567932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187291891	chr20:14567991-14567992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190646715	chr20:14568012-14568013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563042112	chr20:14568042-14568043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182869292	chr20:14568088-14568089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113132743	chr20:14568154-14568155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559890118	chr20:14568169-14568170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528021503	chr20:14568175-14568176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111987122	chr20:14568198-14568199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540203583	chr20:14568235-14568236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141502110	chr20:14568268-14568269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573249306	chr20:14568327-14568328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371592790	chr20:14568337-14568338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532045197	chr20:14568363-14568364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369949865	chr20:14568382-14568383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201131202	chr20:14568385-14568386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs398081264	chr20:14568391-14568392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397744760	chr20:14568392-14568393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79637024	chr20:14568427-14568428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187019441	chr20:14568429-14568430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189942039	chr20:14568489-14568490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548128631	chr20:14568507-14568508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566757842	chr20:14568536-14568537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14561400-14569200	Weak transcription	Pancreas	Pancrea
2	chr20:14564800-14569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14569200-14569400	ZNF genes & repeats	Pancreas	Pancrea
4	chr20:14569800-14570600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:14570600-14577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:14572600-14573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:14572600-14573000	Enhancers	HMEC	breast
8	chr20:14574000-14574600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr20:14574200-14574600	Enhancers	Fetal Kidney	kidney
10	chr20:14574200-14575200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr20:14574600-14575000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:14575200-14580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr20:14575600-14575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr20:14575800-14576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:14575800-14576400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr20:14577800-14578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:14578200-14578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:14578200-14578800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:14578200-14579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:14578800-14579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:14579800-14580800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:14579800-14580800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:14580000-14580200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr20:14580000-14580400	Enhancers	Fetal Brain Male	brain
25	chr20:14581400-14581800	Enhancers	Liver	Liver
26	chr20:14584600-14585400	Enhancers	Stomach Mucosa	stomach
27	chr20:14589600-14590200	Enhancers	A549	lung
28	chr20:14589600-14590800	Enhancers	Liver	Liver
29	chr20:14589600-14590800	Enhancers	Fetal Intestine Small	intestine
30	chr20:14589800-14590400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr20:14589800-14591000	Enhancers	HepG2	liver
32	chr20:14590000-14590800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr20:14590000-14591000	Enhancers	Fetal Intestine Large	intestine
34	chr20:14590200-14590800	Flanking Active TSS	A549	lung
35	chr20:14590400-14591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr20:14590600-14590800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:14590800-14597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr20:14591000-14591400	Weak transcription	Fetal Intestine Large	intestine
39	chr20:14591000-14593200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr20:14591400-14592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr20:14591400-14592400	Enhancers	Fetal Intestine Large	intestine
42	chr20:14591800-14592800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:14592400-14592600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:14592400-14592600	Enhancers	Hela-S3	cervix
45	chr20:14592400-14597200	Weak transcription	Fetal Intestine Large	intestine
46	chr20:14592800-14594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:14593000-14593800	Enhancers	Adipose Nuclei	Adipose
48	chr20:14593200-14593400	Enhancers	Hela-S3	cervix
49	chr20:14593200-14598600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr20:14596400-14596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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