Variant report

Variant	nsv1062960
Chromosome Location	chr20:15045757-15204628
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	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
3	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
4	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
5	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
6	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
7	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
9	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
10	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
11	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
12	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
13	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
14	BCL11A	chr20:15180758-15180983	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	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
19	CEBPB	chr20:15169103-15169442	Hela-S3	cervix:	n/a	chr20:15169267-15169284
20	CEBPB	chr20:15102391-15102522	A549	lung:	n/a	n/a
21	CEBPB	chr20:15151669-15151977	HepG2	liver:	n/a	chr20:15151830-15151841
22	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
23	CEBPB	chr20:15150774-15151075	HepG2	liver:	n/a	chr20:15150914-15150925
24	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
26	CEBPB	chr20:15098569-15098823	HepG2	liver:	n/a	n/a
27	CEBPB	chr20:15120303-15120457	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
30	CEBPB	chr20:15054604-15054884	HepG2	liver:	n/a	chr20:15054730-15054741
31	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
32	CEBPB	chr20:15135330-15135606	HepG2	liver:	n/a	chr20:15135473-15135484
33	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
34	CEBPB	chr20:15151692-15151964	A549	lung:	n/a	chr20:15151830-15151841
35	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
36	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
37	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
38	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
39	CEBPB	chr20:15169144-15169403	H1-hESC	embryonic stem cell:	n/a	chr20:15169267-15169284
40	CEBPB	chr20:15169088-15169464	A549	lung:	n/a	chr20:15169267-15169284
41	CHD1	chr20:15142975-15143175	GM12878	blood:	n/a	n/a
42	CHD2	chr20:15058609-15058743	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr20:15180584-15181175	GM12878	blood:	n/a	n/a
44	CTCF	chr20:15111700-15111850	GM12865	blood:	n/a	n/a
45	CTCF	chr20:15103460-15103610	NB4	blood:	n/a	n/a
46	CTCF	chr20:15079491-15079551	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:15050686-15050759	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr20:15079360-15079510	BE2_C	brain:	n/a	n/a
49	CTCF	chr20:15079440-15079601	HepG2	liver:	n/a	n/a
50	CTCF	chr20:15094860-15095010	NHLF	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15177509-15177559	PANC-1	pancreas:	n/a
2	chr20:15177509-15177559	PANC-1	pancreas:	n/a
3	chr20:15177509-15177559	HNPCEpiC	eye:	n/a
4	chr20:15177509-15177559	NHDF-neo	bronchial:	n/a
5	chr20:15176557-15176607	HCF	heart:	n/a
6	chr20:15177509-15177559	HCPEpiC	choroid plexus:	n/a
7	chr20:15176830-15176880	HL-60	blood:	n/a
8	chr20:15176830-15176880	HCPEpiC	choroid plexus:	n/a
9	chr20:15176830-15176880	AG09309	skin:	n/a
10	chr20:15176557-15176607	NHDF-neo	bronchial:	n/a
11	chr20:15176557-15176607	HPAEpiC	pulmonary alveolar:	n/a
12	chr20:15177509-15177559	HUVEC	blood vessel:	n/a
13	chr20:15177509-15177559	HCT-116	colon:	n/a
14	chr20:15177509-15177559	HCF	heart:	n/a
15	chr20:15177509-15177559	A549	lung:	n/a
16	chr20:15176830-15176880	HCF	heart:	n/a
17	chr20:15177509-15177559	HL-60	blood:	n/a
18	chr20:15176557-15176607	T-47D	breast:	n/a
19	chr20:15177509-15177559	HMEC	breast:	n/a
20	chr20:15176830-15176880	A549	lung:	n/a
21	chr20:15176830-15176880	HPAEpiC	pulmonary alveolar:	n/a
22	chr20:15176830-15176880	HRE	kidney:	n/a
23	chr20:15176557-15176607	NB4	blood:	n/a
24	chr20:15176557-15176607	Hela-S3	cervix:	n/a
25	chr20:15177509-15177559	CMK	blood:	n/a
26	chr20:15176557-15176607	HRE	kidney:	n/a
27	chr20:15177509-15177559	SK-N-MC	brain:	n/a
28	chr20:15176830-15176880	NHBE	bronchial:	n/a
29	chr20:15176557-15176607	K562	blood:	n/a
30	chr20:15176830-15176880	U87	brain:	n/a
31	chr20:15176557-15176607	HEEpiC	esophagus:	n/a
32	chr20:15176557-15176607	AG09309	skin:	n/a
33	chr20:15176557-15176607	HRPEpiC	eye:	n/a
34	chr20:15176830-15176880	HRPEpiC	eye:	n/a
35	chr20:15177509-15177559	GM19239	blood:	n/a
36	chr20:15176830-15176880	SK-N-SH_RA	brain:	n/a
37	chr20:15177509-15177559	Caco-2	colon:	n/a
38	chr20:15176830-15176880	SK-N-SH	brain:	n/a
39	chr20:15176830-15176880	NT2-D1	testis:	n/a
40	chr20:15176557-15176607	Hepatocyte	liver:	n/a
41	chr20:15176557-15176607	IMR90	lung:	fetal
42	chr20:15176830-15176880	GM06990	blood:	n/a
43	chr20:15176830-15176880	AG09319	gingival:	n/a
44	chr20:15176830-15176880	PFSK-1	brain:	n/a
45	chr20:15176830-15176880	Jurkat	blood:	n/a
46	chr20:15177509-15177559	HIPEpiC	eye:	n/a
47	chr20:15176557-15176607	GM19239	blood:	n/a
48	chr20:15176830-15176880	AG04449	skin:	fetal
49	chr20:15176830-15176880	SKMC	muscle:	n/a
50	chr20:15176557-15176607	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

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

Extended variants
information (count: 4326 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:4326 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73897245	chr20:15045895-15045896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568512680	chr20:15045955-15045956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530103898	chr20:15046039-15046040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192926612	chr20:15046041-15046042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572926914	chr20:15046053-15046054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60157421	chr20:15046072-15046073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184508179	chr20:15046076-15046077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577105904	chr20:15046077-15046078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544530305	chr20:15046109-15046110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562726318	chr20:15046117-15046118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs433888	chr20:15046118-15046119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs434080	chr20:15046185-15046186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527411586	chr20:15046191-15046192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188867305	chr20:15046216-15046217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558686508	chr20:15046217-15046218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536812344	chr20:15046232-15046233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550874926	chr20:15046255-15046256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs391017	chr20:15046256-15046257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538097945	chr20:15046279-15046280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554222351	chr20:15046301-15046302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552379789	chr20:15046316-15046317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181191786	chr20:15046349-15046350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531740998	chr20:15046409-15046410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550080348	chr20:15046436-15046437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568377313	chr20:15046437-15046438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367807379	chr20:15046519-15046520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548198150	chr20:15046523-15046524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566343783	chr20:15046536-15046537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6079650	chr20:15046636-15046637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369393966	chr20:15046638-15046639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533931390	chr20:15046660-15046661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371377071	chr20:15046679-15046680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185439498	chr20:15046705-15046706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140331286	chr20:15046718-15046719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577115587	chr20:15046736-15046737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576117795	chr20:15046758-15046759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538010601	chr20:15046763-15046764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111895141	chr20:15046769-15046770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376599891	chr20:15046770-15046771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150343730	chr20:15046782-15046783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189227434	chr20:15046799-15046800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180753088	chr20:15046809-15046810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539819032	chr20:15046812-15046813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541752681	chr20:15046911-15046912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376355147	chr20:15046922-15046923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553372790	chr20:15046934-15046935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549417750	chr20:15046944-15046945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570970316	chr20:15046966-15046967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6079651	chr20:15047026-15047027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570714635	chr20:15047077-15047078	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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15041000-15045800	Enhancers	Fetal Kidney	kidney
2	chr20:15045200-15046000	Enhancers	Fetal Brain Male	brain
3	chr20:15045400-15045800	Enhancers	Fetal Heart	heart
4	chr20:15045400-15046000	Enhancers	Fetal Lung	lung
5	chr20:15045600-15045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr20:15046000-15046600	Weak transcription	Fetal Lung	lung
7	chr20:15046200-15055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:15046600-15046800	Enhancers	Fetal Lung	lung
9	chr20:15049200-15049400	Enhancers	Lung	lung
10	chr20:15049200-15049600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:15049200-15049800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:15049200-15050600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:15049600-15050000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:15049600-15050000	Weak transcription	Lung	lung
15	chr20:15050000-15050600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:15050000-15050800	Enhancers	Lung	lung
17	chr20:15050400-15050800	Enhancers	HepG2	liver
18	chr20:15050600-15058200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr20:15051200-15052200	Enhancers	Fetal Muscle Leg	muscle
20	chr20:15056000-15056600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:15056600-15058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:15057200-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:15057400-15057600	Enhancers	Brain Germinal Matrix	brain
24	chr20:15058000-15058600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:15058000-15059200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:15058200-15059000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr20:15058200-15059000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr20:15058200-15059200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr20:15058200-15059400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:15058400-15058600	Enhancers	Brain Germinal Matrix	brain
31	chr20:15058400-15059200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr20:15058400-15059200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:15058600-15059000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr20:15059000-15061400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:15059800-15060800	Enhancers	Dnd41	blood
36	chr20:15062400-15063200	Enhancers	Fetal Brain Male	brain
37	chr20:15062600-15062800	Enhancers	Fetal Lung	lung
38	chr20:15063400-15064000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:15063400-15064000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr20:15063600-15064000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:15066800-15070200	Weak transcription	Ovary	ovary
42	chr20:15069400-15070400	Enhancers	Brain Germinal Matrix	brain
43	chr20:15070200-15070600	Enhancers	Ovary	ovary
44	chr20:15070200-15070800	Enhancers	Dnd41	blood
45	chr20:15070600-15071600	Weak transcription	Ovary	ovary
46	chr20:15070600-15081200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:15070800-15071200	Weak transcription	Dnd41	blood
48	chr20:15071200-15072200	Enhancers	Dnd41	blood
49	chr20:15071400-15072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr20:15071600-15071800	Bivalent Enhancer	Stomach Mucosa	stomach

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