Variant report

Variant	nsv1057455
Chromosome Location	chr20:15069821-15198608
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	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
3	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
4	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
5	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
6	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
7	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
9	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
10	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
11	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
12	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
13	BCL11A	chr20:15180758-15180983	GM12878	blood:	n/a	n/a
14	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
15	BCL3	chr20:15180753-15181061	GM12878	blood:	n/a	n/a
16	BCLAF1	chr20:15142637-15143439	GM12878	blood:	n/a	n/a
17	BHLHE40	chr20:15180594-15181323	GM12878	blood:	n/a	n/a
18	CEBPB	chr20:15151692-15151964	A549	lung:	n/a	chr20:15151830-15151841
19	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:15150774-15151075	HepG2	liver:	n/a	chr20:15150914-15150925
21	CEBPB	chr20:15151669-15151977	HepG2	liver:	n/a	chr20:15151830-15151841
22	CEBPB	chr20:15127751-15128049	MCF-7	breast:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
23	CEBPB	chr20:15169088-15169464	A549	lung:	n/a	chr20:15169267-15169284
24	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:15162823-15163186	HepG2	liver:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
26	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
27	CEBPB	chr20:15162823-15163175	IMR90	lung:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
28	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
29	CEBPB	chr20:15162836-15163163	A549	lung:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
30	CEBPB	chr20:15120303-15120457	HepG2	liver:	n/a	n/a
31	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15135330-15135606	HepG2	liver:	n/a	chr20:15135473-15135484
33	CEBPB	chr20:15169103-15169442	Hela-S3	cervix:	n/a	chr20:15169267-15169284
34	CEBPB	chr20:15169144-15169403	H1-hESC	embryonic stem cell:	n/a	chr20:15169267-15169284
35	CEBPB	chr20:15127779-15128095	HepG2	liver:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
36	CEBPB	chr20:15127824-15128039	A549	lung:	n/a	chr20:15127917-15127930 chr20:15128000-15128013 chr20:15127917-15127930 chr20:15127919-15127930 chr20:15127917-15127928 chr20:15127919-15127930
37	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
38	CEBPB	chr20:15162902-15163112	H1-hESC	embryonic stem cell:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
39	CHD1	chr20:15142975-15143175	GM12878	blood:	n/a	n/a
40	CREB1	chr20:15180584-15181175	GM12878	blood:	n/a	n/a
41	CTCF	chr20:15173070-15173102	Lung_OC	lung:	n/a	n/a
42	CTCF	chr20:15103780-15103930	Caco-2	colon:	n/a	n/a
43	CTCF	chr20:15111700-15111850	GM12865	blood:	n/a	n/a
44	CTCF	chr20:15079463-15079566	HepG2	liver:	n/a	n/a
45	CTCF	chr20:15094860-15095010	NHLF	lung:	n/a	n/a
46	CTCF	chr20:15192095-15192185	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr20:15166660-15166810	A549	lung:	n/a	n/a
48	CTCF	chr20:15079491-15079551	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:15073440-15073610	K562	blood:	n/a	n/a
50	CTCF	chr20:15079080-15079230	HEEpiC	esophagus:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176830-15176880	HCM	heart:	n/a
2	chr20:15176557-15176607	NH-A	brain:	n/a
3	chr20:15177509-15177559	SAEC	small airway:	n/a
4	chr20:15177509-15177559	GM12892	blood:	n/a
5	chr20:15177509-15177559	HRE	kidney:	n/a
6	chr20:15176557-15176607	U87	brain:	n/a
7	chr20:15176830-15176880	HRCEpiC	kidney:	n/a
8	chr20:15176557-15176607	MCF10A-Er-Src	breast:	n/a
9	chr20:15176557-15176607	SK-N-MC	brain:	n/a
10	chr20:15176557-15176607	GM12892	blood:	n/a
11	chr20:15176830-15176880	Caco-2	colon:	n/a
12	chr20:15177509-15177559	CMK	blood:	n/a
13	chr20:15177509-15177559	HEK293	kidney:	embryo
14	chr20:15176557-15176607	LNCaP	prostate:	n/a
15	chr20:15176557-15176607	HEK293	kidney:	embryo
16	chr20:15176830-15176880	Jurkat	blood:	n/a
17	chr20:15176557-15176607	RPTEC	kidney:	n/a
18	chr20:15177509-15177559	HepG2	liver:	n/a
19	chr20:15176557-15176607	AG09319	gingival:	n/a
20	chr20:15177509-15177559	HCPEpiC	choroid plexus:	n/a
21	chr20:15176830-15176880	H1-hESC	embryonic stem cell:	embryo
22	chr20:15176557-15176607	HRCEpiC	kidney:	n/a
23	chr20:15177509-15177559	Hela-S3	cervix:	n/a
24	chr20:15176830-15176880	MCF10A-Er-Src	breast:	n/a
25	chr20:15176830-15176880	SK-N-SH	brain:	n/a
26	chr20:15177509-15177559	AG09319	gingival:	n/a
27	chr20:15176557-15176607	SK-N-SH	brain:	n/a
28	chr20:15177509-15177559	MCF-7	breast:	n/a
29	chr20:15176830-15176880	PANC-1	pancreas:	n/a
30	chr20:15176557-15176607	SK-N-SH_RA	brain:	n/a
31	chr20:15176557-15176607	HMEC	breast:	n/a
32	chr20:15177509-15177559	U87	brain:	n/a
33	chr20:15177509-15177559	HRCEpiC	kidney:	n/a
34	chr20:15177509-15177559	BJ	skin:	n/a
35	chr20:15177509-15177559	AG09309	skin:	n/a
36	chr20:15177509-15177559	IMR90	lung:	fetal
37	chr20:15177509-15177559	NHBE	bronchial:	n/a
38	chr20:15176830-15176880	ProgFib	skin:	n/a
39	chr20:15176830-15176880	Hela-S3	cervix:	n/a
40	chr20:15176557-15176607	HNPCEpiC	eye:	n/a
41	chr20:15176557-15176607	IMR90	lung:	fetal
42	chr20:15176557-15176607	NB4	blood:	n/a
43	chr20:15176557-15176607	AG04449	skin:	fetal
44	chr20:15176830-15176880	HEEpiC	esophagus:	n/a
45	chr20:15176830-15176880	RPTEC	kidney:	n/a
46	chr20:15176557-15176607	MCF-7	breast:	n/a
47	chr20:15176830-15176880	A549	lung:	n/a
48	chr20:15177509-15177559	Caco-2	colon:	n/a
49	chr20:15176557-15176607	NT2-D1	testis:	n/a
50	chr20:15177509-15177559	ECC-1	luminal epithelium:	n/a

Variant related genes	Relation type
MACROD2	TF binding region
MACROD2	CpG island

Extended variants
information (count: 3342 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3342 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551549336	chr20:15069823-15069824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193091233	chr20:15069885-15069886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537670026	chr20:15069903-15069904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549582596	chr20:15069926-15069927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546773554	chr20:15069933-15069934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566996928	chr20:15069939-15069940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535001096	chr20:15069965-15069966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6043088	chr20:15070049-15070050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565497162	chr20:15070163-15070164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6079656	chr20:15070203-15070204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557461372	chr20:15070213-15070214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140772386	chr20:15070229-15070230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543256812	chr20:15070231-15070232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555140970	chr20:15070233-15070234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573601566	chr20:15070306-15070307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568786390	chr20:15070307-15070308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76480343	chr20:15070327-15070328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533144620	chr20:15070353-15070354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545363424	chr20:15070360-15070361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185392943	chr20:15070364-15070365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531013996	chr20:15070419-15070420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549641906	chr20:15070453-15070454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567811024	chr20:15070532-15070533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528789322	chr20:15070533-15070534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546951521	chr20:15070553-15070554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187461934	chr20:15070575-15070576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6043089	chr20:15070597-15070598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192016752	chr20:15070599-15070600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554104269	chr20:15070643-15070644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557324148	chr20:15070654-15070655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150468542	chr20:15070661-15070662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6074838	chr20:15070699-15070700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555153414	chr20:15070766-15070767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138246558	chr20:15070775-15070776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573721990	chr20:15070787-15070788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534674910	chr20:15070803-15070804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376302846	chr20:15070834-15070835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10566528	chr20:15070852-15070853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552283852	chr20:15070853-15070854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559738091	chr20:15070854-15070855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397864865	chr20:15070865-15070866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11473861	chr20:15070866-15070867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553019452	chr20:15070891-15070892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577852979	chr20:15070932-15070933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371511834	chr20:15071011-15071012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149220627	chr20:15071078-15071079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184255612	chr20:15071119-15071120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114152659	chr20:15071152-15071153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs445945	chr20:15071192-15071193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545243593	chr20:15071200-15071201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15066800-15070200	Weak transcription	Ovary	ovary
2	chr20:15069400-15070400	Enhancers	Brain Germinal Matrix	brain
3	chr20:15070200-15070600	Enhancers	Ovary	ovary
4	chr20:15070200-15070800	Enhancers	Dnd41	blood
5	chr20:15070600-15071600	Weak transcription	Ovary	ovary
6	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:15070800-15071200	Weak transcription	Dnd41	blood
8	chr20:15071200-15072200	Enhancers	Dnd41	blood
9	chr20:15071400-15072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:15071600-15071800	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr20:15071800-15072000	Enhancers	Ovary	ovary
12	chr20:15071800-15072200	Enhancers	Primary T cells from cord blood	blood
13	chr20:15071800-15072400	Enhancers	Stomach Mucosa	stomach
14	chr20:15072200-15072800	Flanking Active TSS	Dnd41	blood
15	chr20:15072800-15073600	Enhancers	Dnd41	blood
16	chr20:15074400-15074600	Enhancers	Stomach Mucosa	stomach
17	chr20:15078200-15078800	Enhancers	HepG2	liver
18	chr20:15081000-15081600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:15081200-15082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:15081200-15082000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:15081200-15082000	Enhancers	HMEC	breast
22	chr20:15081200-15082200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:15081200-15082200	Enhancers	NHEK	skin
24	chr20:15087200-15087400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:15087400-15092200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:15088400-15089200	Enhancers	Stomach Mucosa	stomach
27	chr20:15089000-15089600	Enhancers	Fetal Intestine Small	intestine
28	chr20:15090800-15091000	Enhancers	Thymus	Thymus
29	chr20:15091000-15092200	Weak transcription	Thymus	Thymus
30	chr20:15091000-15093400	Enhancers	Fetal Thymus	thymus
31	chr20:15091200-15094000	Enhancers	Dnd41	blood
32	chr20:15092200-15092600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:15092200-15093000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:15092200-15093000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:15092200-15093600	Enhancers	Thymus	Thymus
36	chr20:15092200-15094000	Enhancers	Primary T cells from cord blood	blood
37	chr20:15092400-15092800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr20:15092400-15092800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:15093000-15094800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:15093400-15095000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr20:15093400-15096000	Weak transcription	Fetal Thymus	thymus
42	chr20:15093600-15094200	Weak transcription	Thymus	Thymus
43	chr20:15093600-15095200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr20:15093800-15094200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:15093800-15094600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:15093800-15095000	Enhancers	Brain Hippocampus Middle	brain
47	chr20:15093800-15095200	Enhancers	Brain Substantia Nigra	brain
48	chr20:15094000-15094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:15094000-15094600	Enhancers	Fetal Brain Male	brain
50	chr20:15094000-15094800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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