Variant report

Variant	nsv1057540
Chromosome Location	chr20:14510033-14598427
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	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
3	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
7	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
9	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
11	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
15	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
17	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
18	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
19	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
20	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
21	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
22	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
24	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
25	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
27	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
28	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
29	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
30	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
31	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
33	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
34	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
35	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
36	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
38	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
39	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
40	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
41	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
42	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
43	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
44	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
45	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
46	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
47	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
48	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
49	CEBPD	chr20:14590294-14590459	HepG2	liver:	n/a	n/a
50	CHD2	chr20:14519099-14519406	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
2	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
3	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
4	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
5	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
6	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
2	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
3	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1

Variant related genes	Relation type
ENSG00000227563	TF binding region
MACROD2-IT1	TF binding region
ENSG00000227563	chromatin interactions

Extended variants
information (count: 2881 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2881 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73098608	chr20:14510045-14510046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528477300	chr20:14510046-14510047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191228135	chr20:14510048-14510049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367817230	chr20:14510062-14510063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73901269	chr20:14510068-14510069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530366818	chr20:14510079-14510080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572333576	chr20:14510095-14510096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182611037	chr20:14510105-14510106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550851056	chr20:14510156-14510157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569108523	chr20:14510180-14510181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530275334	chr20:14510227-14510228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187737892	chr20:14510238-14510239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112333507	chr20:14510367-14510368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371108676	chr20:14510463-14510464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146058784	chr20:14510472-14510473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139802602	chr20:14510474-14510475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536515586	chr20:14510497-14510498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193120218	chr20:14510564-14510565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553543997	chr20:14510596-14510597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185017985	chr20:14510609-14510610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557146932	chr20:14510628-14510629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6042781	chr20:14510635-14510636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74179746	chr20:14510650-14510651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542876150	chr20:14510684-14510685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149793707	chr20:14510690-14510691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573195850	chr20:14510697-14510698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538788277	chr20:14510738-14510739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187838176	chr20:14510809-14510810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565287296	chr20:14510821-14510822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6042782	chr20:14510840-14510841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192319510	chr20:14510901-14510902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144555984	chr20:14510904-14510905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17263841	chr20:14510925-14510926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548405029	chr20:14510960-14510961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566798964	chr20:14510968-14510969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575371854	chr20:14511009-14511010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115451356	chr20:14511029-14511030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184523458	chr20:14511047-14511048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117037563	chr20:14511052-14511053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1544043	chr20:14511072-14511073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1543571	chr20:14511079-14511080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75092199	chr20:14511087-14511088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557242722	chr20:14511111-14511112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189585516	chr20:14511145-14511146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575488980	chr20:14511155-14511156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1544044	chr20:14511168-14511169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546579219	chr20:14511182-14511183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147630446	chr20:14511215-14511216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532172587	chr20:14511288-14511289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140608918	chr20:14511306-14511307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14504200-14510600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:14504600-14517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14510600-14511000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:14510600-14511000	Enhancers	Fetal Heart	heart
5	chr20:14511000-14515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:14517000-14517400	Enhancers	HMEC	breast
7	chr20:14517200-14518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:14517200-14518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:14517200-14518600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:14517200-14518600	Enhancers	NHEK	skin
11	chr20:14517200-14519200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:14517400-14517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:14517400-14517800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:14517400-14517800	Flanking Active TSS	HMEC	breast
15	chr20:14517400-14518000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:14517400-14518200	Enhancers	NHDF-Ad	bronchial
17	chr20:14517400-14519000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:14517800-14519000	Enhancers	HMEC	breast
19	chr20:14518400-14518600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:14518400-14518600	Bivalent Enhancer	GM12878-XiMat	blood
21	chr20:14518600-14519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:14518600-14519800	Enhancers	GM12878-XiMat	blood
23	chr20:14518600-14520200	Enhancers	Primary hematopoietic stem cells	blood
24	chr20:14518800-14519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:14519000-14519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14519200-14523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:14519600-14520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:14519800-14520000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:14519800-14520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr20:14520200-14521200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr20:14521200-14521400	Enhancers	Primary hematopoietic stem cells	blood
32	chr20:14522800-14523000	Enhancers	Gastric	stomach
33	chr20:14523000-14529600	Weak transcription	Gastric	stomach
34	chr20:14523800-14524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:14524400-14526400	Enhancers	Fetal Heart	heart
36	chr20:14529600-14529800	ZNF genes & repeats	Gastric	stomach
37	chr20:14533200-14533400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:14533400-14534800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:14534200-14535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:14534200-14535400	Enhancers	HSMM	muscle
41	chr20:14534200-14535400	Enhancers	HSMMtube	muscle
42	chr20:14534200-14535600	Enhancers	Hela-S3	cervix
43	chr20:14534400-14537600	Enhancers	NHEK	skin
44	chr20:14534600-14534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:14534600-14535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:14534600-14535400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:14534600-14535400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr20:14534600-14537400	Enhancers	HMEC	breast
49	chr20:14534800-14535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr20:14534800-14535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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