Variant report

Variant	nsv1064738
Chromosome Location	chr20:14542669-14686297
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	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
4	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:14549483-14549672	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	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr20:14677983-14678307	HepG2	liver:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
15	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
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	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
19	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
20	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
21	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
22	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
23	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
24	CEBPB	chr20:14653831-14654181	A549	lung:	n/a	n/a
25	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
26	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
27	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
28	CEBPB	chr20:14653862-14654241	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
30	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
31	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
32	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
33	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
34	CEBPB	chr20:14664747-14664910	HepG2	liver:	n/a	n/a
35	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
36	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
37	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
38	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
39	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
40	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
41	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
42	CEBPB	chr20:14667964-14668256	A549	lung:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
43	CEBPB	chr20:14653900-14654183	HepG2	liver:	n/a	n/a
44	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
45	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
46	CEBPB	chr20:14667947-14668293	HepG2	liver:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
47	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
48	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
49	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
50	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a

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

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

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

Extended variants
information (count: 4491 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4491 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139619079	chr20:14542673-14542674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79081941	chr20:14542687-14542688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547497570	chr20:14542728-14542729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144113322	chr20:14542754-14542755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553007201	chr20:14542785-14542786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539634763	chr20:14542789-14542790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558055743	chr20:14542828-14542829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538044539	chr20:14542834-14542835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574942839	chr20:14542865-14542866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556676645	chr20:14542872-14542873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537385407	chr20:14542901-14542902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150980238	chr20:14542907-14542908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73901889	chr20:14542914-14542915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140893254	chr20:14542933-14542934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185607029	chr20:14542936-14542937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553451593	chr20:14542950-14542951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189974229	chr20:14542970-14542971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71950376	chr20:14543010-14543011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531446919	chr20:14543014-14543015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373684251	chr20:14543033-14543034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573063012	chr20:14543036-14543037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182260666	chr20:14543060-14543061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575520923	chr20:14543066-14543067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149738720	chr20:14543078-14543079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561502096	chr20:14543086-14543087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371147161	chr20:14543111-14543112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117733069	chr20:14543149-14543150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113763861	chr20:14543167-14543168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11475992	chr20:14543170-14543171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397730330	chr20:14543172-14543173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112113831	chr20:14543175-14543176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559420083	chr20:14543177-14543178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533112447	chr20:14543217-14543218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551593342	chr20:14543218-14543219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145461456	chr20:14543220-14543221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187409622	chr20:14543243-14543244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141078137	chr20:14543253-14543254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73901890	chr20:14543256-14543257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146928122	chr20:14543302-14543303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192095001	chr20:14543343-14543344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578055150	chr20:14543347-14543348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538787024	chr20:14543350-14543351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557126122	chr20:14543431-14543432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575459290	chr20:14543468-14543469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117073476	chr20:14543485-14543486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375477306	chr20:14543497-14543498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183468180	chr20:14543498-14543499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371714071	chr20:14543503-14543504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147600704	chr20:14543522-14543523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576568912	chr20:14543577-14543578	Enhancers Weak transcription	n/a	n/a	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:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:14540800-14545800	Weak transcription	HMEC	breast
3	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:14542800-14543800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:14542800-14546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:14543000-14547000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr20:14543200-14543600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr20:14543200-14543800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:14543400-14543800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:14543400-14543800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr20:14543400-14543800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr20:14543400-14543800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr20:14543400-14543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:14543400-14544000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:14543400-14544000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:14543400-14544000	Enhancers	Fetal Muscle Leg	muscle
20	chr20:14543400-14544200	Enhancers	Fetal Intestine Large	intestine
21	chr20:14543400-14544200	Enhancers	Fetal Intestine Small	intestine
22	chr20:14543600-14549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr20:14544000-14545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:14545800-14546000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:14546400-14546800	Enhancers	HSMM	muscle
26	chr20:14546800-14547600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:14546800-14547600	Weak transcription	HSMM	muscle
28	chr20:14547000-14547200	Enhancers	NHEK	skin
29	chr20:14547000-14547600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr20:14547000-14548200	Enhancers	NHDF-Ad	bronchial
31	chr20:14547200-14548200	Weak transcription	NHEK	skin
32	chr20:14547600-14547800	Enhancers	HSMM	muscle
33	chr20:14547600-14548000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:14547600-14548800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr20:14547800-14548600	Weak transcription	HSMM	muscle
36	chr20:14548200-14549800	Enhancers	NHEK	skin
37	chr20:14548600-14549000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:14548600-14549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr20:14548600-14549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr20:14548600-14549800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:14548600-14549800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:14548600-14549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:14548600-14550000	Enhancers	HMEC	breast
44	chr20:14548600-14550400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr20:14548600-14551000	Enhancers	HSMM	muscle
46	chr20:14548800-14549200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:14548800-14549800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr20:14548800-14550000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr20:14549000-14549400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:14549000-14549400	Enhancers	Cortex derived primary cultured neurospheres	brain

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