Variant report

Variant	nsv1060985
Chromosome Location	chr20:14488785-14759939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1394)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

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	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
3	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
5	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
8	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
9	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
10	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
13	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
14	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
15	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
16	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
17	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
19	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
20	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
21	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
22	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
23	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
24	BHLHE40	chr20:14672674-14672924	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
26	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
28	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
32	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
33	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
35	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
36	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
37	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
38	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
39	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
40	CEBPB	chr20:14756412-14756875	MCF-7	breast:	n/a	n/a
41	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
43	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
44	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
45	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
46	CEBPB	chr20:14667964-14668256	A549	lung:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
47	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
48	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
49	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
50	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
2	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
3	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
4	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
5	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
6	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
7	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
8	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
9	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
10	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
11	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
12	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
13	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:
14	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
15	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
16	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
17	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
18	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
19	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
20	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
21	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
22	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
23	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
24	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
25	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
26	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
27	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
28	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
2	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
3	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716
4	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714
5	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
6	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
7	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
8	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
9	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
10	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716
11	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
12	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
13	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
14	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1

No data

Variant related genes	Relation type
MACROD2	TF binding region
RPS10P2	TF binding region
ENSG00000227563	TF binding region
MACROD2-IT1	TF binding region
ENSG00000125844	chromatin interactions
ENSG00000227563	chromatin interactions
ENSG00000227927	chromatin interactions

Extended variants
information (count: 8324 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:8324 , 50 per page) page: 1 2 3 4 5 6 7 ... 167

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550905089	chr20:14488809-14488810	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187903451	chr20:14488810-14488811	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138579460	chr20:14488902-14488903	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567674292	chr20:14488992-14488993	Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543181092	chr20:14489023-14489024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537984521	chr20:14489079-14489080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374988454	chr20:14489103-14489104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535457723	chr20:14489189-14489190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111531671	chr20:14489240-14489241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554682439	chr20:14489269-14489270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566938550	chr20:14489270-14489271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7363827	chr20:14489287-14489288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78550792	chr20:14489303-14489304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559079809	chr20:14489320-14489321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570725536	chr20:14489362-14489363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538107579	chr20:14489468-14489469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192784827	chr20:14489488-14489489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574835549	chr20:14489530-14489531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184312978	chr20:14489531-14489532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190828075	chr20:14489536-14489537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572869730	chr20:14489602-14489603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115144831	chr20:14489644-14489645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398879	chr20:14489658-14489659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13043292	chr20:14489728-14489729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544462997	chr20:14489790-14489791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193009740	chr20:14489792-14489793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530048039	chr20:14489828-14489829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548538980	chr20:14489835-14489836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36023726	chr20:14489849-14489850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149327825	chr20:14489883-14489884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563267274	chr20:14489910-14489911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17812707	chr20:14489921-14489922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374156088	chr20:14489958-14489959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538041430	chr20:14490002-14490003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184589619	chr20:14490012-14490013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556375639	chr20:14490044-14490045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188956770	chr20:14490101-14490102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529270616	chr20:14490178-14490179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562386420	chr20:14490302-14490303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112497000	chr20:14490311-14490312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181528351	chr20:14490342-14490343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185834358	chr20:14490351-14490352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572763327	chr20:14490377-14490378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540278983	chr20:14490389-14490390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146259353	chr20:14490425-14490426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189520973	chr20:14490463-14490464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137889258	chr20:14490481-14490482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142395979	chr20:14490482-14490483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181066100	chr20:14490506-14490507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544331744	chr20:14490542-14490543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14488400-14489000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14488800-14489200	Enhancers	HUVEC	blood vessel
3	chr20:14489000-14499400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14489200-14493000	Weak transcription	HUVEC	blood vessel
5	chr20:14491000-14491800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14491400-14491800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:14493000-14493200	Enhancers	HUVEC	blood vessel
8	chr20:14493000-14494000	Enhancers	Fetal Lung	lung
9	chr20:14493200-14493800	Enhancers	Fetal Brain Male	brain
10	chr20:14493200-14493800	Enhancers	Ovary	ovary
11	chr20:14493200-14493800	Bivalent Enhancer	HUVEC	blood vessel
12	chr20:14493200-14494000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr20:14493200-14494000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:14493200-14494000	Enhancers	Fetal Heart	heart
15	chr20:14493400-14493800	Enhancers	Fetal Stomach	stomach
16	chr20:14494000-14499000	Weak transcription	Fetal Heart	heart
17	chr20:14499000-14499200	Enhancers	Fetal Heart	heart
18	chr20:14499200-14499600	Flanking Active TSS	Fetal Heart	heart
19	chr20:14499200-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:14499200-14500200	Enhancers	NHEK	skin
21	chr20:14499400-14500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:14499400-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:14499400-14500200	Enhancers	HMEC	breast
24	chr20:14499600-14500000	Enhancers	Fetal Heart	heart
25	chr20:14500000-14501200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14500000-14501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:14500000-14501400	Weak transcription	Fetal Heart	heart
28	chr20:14500000-14501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:14500200-14501400	Weak transcription	HMEC	breast
30	chr20:14500200-14501400	Weak transcription	NHEK	skin
31	chr20:14501200-14502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:14501200-14504600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:14501400-14502000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr20:14501400-14502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr20:14501400-14502600	Enhancers	Fetal Heart	heart
36	chr20:14501400-14502600	Enhancers	NHEK	skin
37	chr20:14501400-14502800	Enhancers	Primary hematopoietic stem cells	blood
38	chr20:14501400-14502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:14501400-14503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:14501400-14504800	Enhancers	HMEC	breast
41	chr20:14501600-14504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:14501800-14502200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr20:14502600-14502800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr20:14502600-14503600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:14502600-14503800	Flanking Active TSS	NHEK	skin
46	chr20:14502600-14504000	Enhancers	Esophagus	oesophagus
47	chr20:14503600-14503800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:14503800-14504000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:14503800-14504000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:14503800-14504600	Enhancers	NHEK	skin

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