Variant report

Variant	nsv1060786
Chromosome Location	chr20:14486713-14648467
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	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
6	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
9	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
10	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
11	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
12	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
13	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
14	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
18	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
19	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
20	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
21	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
22	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
23	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
24	CEBPB	chr20:14495728-14495973	A549	lung:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
25	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
26	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
27	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
28	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
29	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
30	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
31	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
32	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
33	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
34	CEBPB	chr20:14495711-14495997	HepG2	liver:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
35	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
36	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
37	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
40	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
42	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
43	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
44	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
45	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
46	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
47	CEBPB	chr20:14488022-14488063	A549	lung:	n/a	n/a
48	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
49	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
50	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675

No.	Distal block	Cell Line	Cell type
1	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
2	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
3	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
4	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
5	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
6	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
7	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
8	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
9	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
10	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-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
3	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
4	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716
5	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
6	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
7	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
8	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
9	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
10	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
11	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
12	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1

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

Extended variants
information (count: 5356 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:5356 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562741784	chr20:14486741-14486742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116019627	chr20:14486763-14486764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536841730	chr20:14486764-14486765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555182267	chr20:14486786-14486787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111356883	chr20:14486843-14486844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150048755	chr20:14486912-14486913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550565251	chr20:14486955-14486956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567283717	chr20:14486966-14486967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553062513	chr20:14487017-14487018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536586505	chr20:14487048-14487049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2224296	chr20:14487091-14487092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181137646	chr20:14487196-14487197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145329139	chr20:14487216-14487217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575848625	chr20:14487222-14487223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149228225	chr20:14487224-14487225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6110313	chr20:14487272-14487273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370855890	chr20:14487279-14487280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561497844	chr20:14487282-14487283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373955557	chr20:14487334-14487335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528753755	chr20:14487346-14487347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539234341	chr20:14487404-14487405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74983095	chr20:14487449-14487450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367845	chr20:14487454-14487455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6110314	chr20:14487472-14487473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147882152	chr20:14487484-14487485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185397656	chr20:14487489-14487490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141493818	chr20:14487537-14487538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs404026	chr20:14487553-14487554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530553693	chr20:14487554-14487555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543837142	chr20:14487558-14487559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7262867	chr20:14487559-14487560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148123634	chr20:14487561-14487562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574279603	chr20:14487597-14487598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567474521	chr20:14487621-14487622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534578143	chr20:14487622-14487623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191137710	chr20:14487625-14487626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140988529	chr20:14487645-14487646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182501556	chr20:14487662-14487663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557426284	chr20:14487663-14487664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575789192	chr20:14487695-14487696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550510856	chr20:14487713-14487714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560905583	chr20:14487747-14487748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370300287	chr20:14487759-14487760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536767187	chr20:14487762-14487763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555169203	chr20:14487878-14487879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs475471	chr20:14487924-14487925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540522731	chr20:14487975-14487976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187630015	chr20:14487995-14487996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191948706	chr20:14488031-14488032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544588118	chr20:14488057-14488058	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:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14462600-14488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14486000-14487200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:14486400-14486800	Enhancers	Brain Germinal Matrix	brain
4	chr20:14486400-14487200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:14486600-14487000	Enhancers	Fetal Brain Male	brain
6	chr20:14488400-14489000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:14488800-14489200	Enhancers	HUVEC	blood vessel
8	chr20:14489000-14499400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:14489200-14493000	Weak transcription	HUVEC	blood vessel
10	chr20:14491000-14491800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:14491400-14491800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:14493000-14493200	Enhancers	HUVEC	blood vessel
13	chr20:14493000-14494000	Enhancers	Fetal Lung	lung
14	chr20:14493200-14493800	Enhancers	Fetal Brain Male	brain
15	chr20:14493200-14493800	Enhancers	Ovary	ovary
16	chr20:14493200-14493800	Bivalent Enhancer	HUVEC	blood vessel
17	chr20:14493200-14494000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:14493200-14494000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:14493200-14494000	Enhancers	Fetal Heart	heart
20	chr20:14493400-14493800	Enhancers	Fetal Stomach	stomach
21	chr20:14494000-14499000	Weak transcription	Fetal Heart	heart
22	chr20:14499000-14499200	Enhancers	Fetal Heart	heart
23	chr20:14499200-14499600	Flanking Active TSS	Fetal Heart	heart
24	chr20:14499200-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14499200-14500200	Enhancers	NHEK	skin
26	chr20:14499400-14500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:14499400-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:14499400-14500200	Enhancers	HMEC	breast
29	chr20:14499600-14500000	Enhancers	Fetal Heart	heart
30	chr20:14500000-14501200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:14500000-14501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:14500000-14501400	Weak transcription	Fetal Heart	heart
33	chr20:14500000-14501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:14500200-14501400	Weak transcription	HMEC	breast
35	chr20:14500200-14501400	Weak transcription	NHEK	skin
36	chr20:14501200-14502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:14501200-14504600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:14501400-14502000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:14501400-14502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr20:14501400-14502600	Enhancers	Fetal Heart	heart
41	chr20:14501400-14502600	Enhancers	NHEK	skin
42	chr20:14501400-14502800	Enhancers	Primary hematopoietic stem cells	blood
43	chr20:14501400-14502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:14501400-14503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:14501400-14504800	Enhancers	HMEC	breast
46	chr20:14501600-14504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:14501800-14502200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr20:14502600-14502800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:14502600-14503600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr20:14502600-14503800	Flanking Active TSS	NHEK	skin

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