Variant report

Variant	nsv1055188
Chromosome Location	chr20:14533457-14686297
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	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
5	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
8	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14672674-14672924	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
11	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
12	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
16	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
17	CEBPB	chr20:14678001-14678282	A549	lung:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
18	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
19	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
20	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
21	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
22	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
24	CEBPB	chr20:14653900-14654183	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:14677983-14678307	HepG2	liver:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
26	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
27	CEBPB	chr20:14653897-14654226	A549	lung:	n/a	n/a
28	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
29	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
31	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
32	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
33	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
34	CEBPB	chr20:14667964-14668256	A549	lung:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
35	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
36	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
37	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
38	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
39	CEBPB	chr20:14667947-14668293	HepG2	liver:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
40	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
41	CEBPB	chr20:14666214-14666506	HepG2	liver:	n/a	chr20:14666339-14666352 chr20:14666339-14666350
42	CEBPB	chr20:14653831-14654181	A549	lung:	n/a	n/a
43	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
44	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
46	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
47	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
49	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
50	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
3	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
4	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:
5	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
6	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
2	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
3	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
4	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
5	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
6	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
7	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
8	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714
9	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716
10	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
11	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
12	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1

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

Extended variants
information (count: 4848 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4848 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2423815	chr20:14533457-14533458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147294055	chr20:14533466-14533467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568709957	chr20:14533473-14533474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181564290	chr20:14533476-14533477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371605915	chr20:14533526-14533527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114888371	chr20:14533558-14533559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185711082	chr20:14533589-14533590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565118753	chr20:14533606-14533607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554530555	chr20:14533610-14533611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572858689	chr20:14533639-14533640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555684749	chr20:14533651-14533652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540236422	chr20:14533669-14533670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370605027	chr20:14533676-14533677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200069444	chr20:14533769-14533770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6110323	chr20:14533770-14533771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116062590	chr20:14533772-14533773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544019309	chr20:14533806-14533807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73098650	chr20:14533817-14533818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201046281	chr20:14533839-14533840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529867322	chr20:14533851-14533852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541705976	chr20:14533861-14533862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567887414	chr20:14533898-14533899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144889914	chr20:14533915-14533916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191483920	chr20:14533924-14533925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147881810	chr20:14533959-14533960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139227613	chr20:14533969-14533970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150011498	chr20:14533971-14533972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578009935	chr20:14533972-14533973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6110324	chr20:14534025-14534026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547167032	chr20:14534035-14534036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6110325	chr20:14534037-14534038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373617527	chr20:14534054-14534055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542933585	chr20:14534055-14534056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34162149	chr20:14534074-14534075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115583958	chr20:14534139-14534140	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs145283334	chr20:14534157-14534158	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182857270	chr20:14534169-14534170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs533515318	chr20:14534218-14534219	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558516898	chr20:14534230-14534231	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576813279	chr20:14534231-14534232	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs1535214	chr20:14534324-14534325	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555875020	chr20:14534332-14534333	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574259089	chr20:14534342-14534343	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541645703	chr20:14534353-14534354	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs188186306	chr20:14534368-14534369	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115214833	chr20:14534415-14534416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547470971	chr20:14534429-14534430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545818767	chr20:14534431-14534432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564502242	chr20:14534432-14534433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528097233	chr20:14534454-14534455	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14533400-14534800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14534200-14535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:14534200-14535400	Enhancers	HSMM	muscle
4	chr20:14534200-14535400	Enhancers	HSMMtube	muscle
5	chr20:14534200-14535600	Enhancers	Hela-S3	cervix
6	chr20:14534400-14537600	Enhancers	NHEK	skin
7	chr20:14534600-14534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:14534600-14535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:14534600-14535400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr20:14534600-14535400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr20:14534600-14537400	Enhancers	HMEC	breast
12	chr20:14534800-14535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:14534800-14535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:14534800-14537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr20:14535000-14537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:14535200-14535400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:14535200-14536200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:14535400-14540400	Weak transcription	HSMM	muscle
20	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr20:14535600-14536000	Weak transcription	Hela-S3	cervix
23	chr20:14535800-14537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:14536000-14536400	Enhancers	Hela-S3	cervix
25	chr20:14536200-14536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr20:14536200-14537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:14536400-14536800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:14536800-14537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:14537400-14540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:14537400-14540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:14537400-14540400	Weak transcription	HMEC	breast
32	chr20:14537600-14540400	Weak transcription	NHEK	skin
33	chr20:14540000-14541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:14540400-14540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:14540400-14540800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:14540400-14540800	Enhancers	HMEC	breast
37	chr20:14540400-14540800	Enhancers	HSMM	muscle
38	chr20:14540400-14541000	Enhancers	NHEK	skin
39	chr20:14540800-14542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:14540800-14542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr20:14540800-14545800	Weak transcription	HMEC	breast
42	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:14542400-14542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:14542800-14543800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr20:14542800-14546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:14543000-14547000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr20:14543200-14543600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links