Variant report

Variant	nsv1058827
Chromosome Location	chr20:15159151-15289719
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	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
2	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
3	BATF	chr20:15217496-15217756	GM12878	blood:	n/a	n/a
4	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
5	BATF	chr20:15229264-15229547	GM12878	blood:	n/a	n/a
6	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
7	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:15180758-15180983	GM12878	blood:	n/a	n/a
9	BCL3	chr20:15180753-15181061	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:15180594-15181323	GM12878	blood:	n/a	n/a
11	BRCA1	chr20:15217541-15217700	HepG2	liver:	n/a	n/a
12	CBX3	chr20:15217421-15217751	HCT-116	colon:	n/a	n/a
13	CEBPB	chr20:15223427-15223773	IMR90	lung:	n/a	chr20:15223596-15223607
14	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
15	CEBPB	chr20:15227633-15227833	HepG2	liver:	n/a	chr20:15227768-15227779
16	CEBPB	chr20:15169144-15169403	H1-hESC	embryonic stem cell:	n/a	chr20:15169267-15169284
17	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
18	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
19	CEBPB	chr20:15274199-15274343	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:15252432-15252620	A549	lung:	n/a	n/a
21	CEBPB	chr20:15169103-15169442	Hela-S3	cervix:	n/a	chr20:15169267-15169284
22	CEBPB	chr20:15217479-15217818	MCF-7	breast:	n/a	n/a
23	CEBPB	chr20:15223419-15223777	HepG2	liver:	n/a	chr20:15223596-15223607
24	CEBPB	chr20:15233480-15233503	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
26	CEBPB	chr20:15237312-15237381	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr20:15223445-15223762	A549	lung:	n/a	chr20:15223596-15223607
28	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
29	CEBPB	chr20:15169088-15169464	A549	lung:	n/a	chr20:15169267-15169284
30	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
31	CEBPB	chr20:15230884-15230987	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:15239247-15239316	A549	lung:	n/a	n/a
33	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
34	CEBPZ	chr20:15213153-15213155	HepG2	liver:	n/a	n/a
35	CREB1	chr20:15180584-15181175	GM12878	blood:	n/a	n/a
36	CTCF	chr20:15217533-15217686	GM20000	blood:	n/a	n/a
37	CTCF	chr20:15246699-15246803	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr20:15217420-15217570	GM12870	blood:	n/a	n/a
39	CTCF	chr20:15217464-15217769	MCF-7	breast:	n/a	n/a
40	CTCF	chr20:15217514-15217743	GM10266	blood:	n/a	n/a
41	CTCF	chr20:15173070-15173102	Lung_OC	lung:	n/a	n/a
42	CTCF	chr20:15217580-15217730	GM12865	blood:	n/a	n/a
43	CTCF	chr20:15229021-15229045	Fibrobl	skin:	n/a	n/a
44	CTCF	chr20:15248655-15248691	LNCaP	prostate:	n/a	n/a
45	CTCF	chr20:15217547-15217758	GM12892	blood:	n/a	n/a
46	CTCF	chr20:15217560-15217710	BJ	skin:	n/a	n/a
47	CTCF	chr20:15217520-15217670	AG04450	lung:	n/a	n/a
48	CTCF	chr20:15246580-15246730	NHEK	skin:	n/a	n/a
49	CTCF	chr20:15217354-15217777	HCT-116	colon:	n/a	n/a
50	CTCF	chr20:15217820-15217970	AG10803	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176830-15176880	Hepatocyte	liver:	n/a
2	chr20:15177509-15177559	NHBE	bronchial:	n/a
3	chr20:15176830-15176880	AG04449	skin:	fetal
4	chr20:15176830-15176880	ProgFib	skin:	n/a
5	chr20:15177509-15177559	GM12892	blood:	n/a
6	chr20:15177509-15177559	BJ	skin:	n/a
7	chr20:15176830-15176880	H1-hESC	embryonic stem cell:	embryo
8	chr20:15177509-15177559	LNCaP	prostate:	n/a
9	chr20:15177509-15177559	U87	brain:	n/a
10	chr20:15176557-15176607	LNCaP	prostate:	n/a
11	chr20:15176557-15176607	ECC-1	luminal epithelium:	n/a
12	chr20:15176830-15176880	K562	blood:	n/a
13	chr20:15176557-15176607	SK-N-SH_RA	brain:	n/a
14	chr20:15176830-15176880	GM06990	blood:	n/a
15	chr20:15176830-15176880	NHBE	bronchial:	n/a
16	chr20:15176557-15176607	NHBE	bronchial:	n/a
17	chr20:15176830-15176880	BJ	skin:	n/a
18	chr20:15177509-15177559	NHDF-neo	bronchial:	n/a
19	chr20:15177509-15177559	GM19239	blood:	n/a
20	chr20:15176557-15176607	SAEC	small airway:	n/a
21	chr20:15176830-15176880	AG09319	gingival:	n/a
22	chr20:15177509-15177559	AG10803	skin:	n/a
23	chr20:15177509-15177559	SK-N-SH_RA	brain:	n/a
24	chr20:15176557-15176607	SKMC	muscle:	n/a
25	chr20:15177509-15177559	H1-hESC	embryonic stem cell:	embryo
26	chr20:15177509-15177559	HIPEpiC	eye:	n/a
27	chr20:15177509-15177559	HUVEC	blood vessel:	n/a
28	chr20:15176830-15176880	SKMC	muscle:	n/a
29	chr20:15176557-15176607	NHDF-neo	bronchial:	n/a
30	chr20:15176830-15176880	HepG2	liver:	n/a
31	chr20:15176557-15176607	PrEC	prostate:	n/a
32	chr20:15177509-15177559	PrEC	prostate:	n/a
33	chr20:15177509-15177559	HRPEpiC	eye:	n/a
34	chr20:15177509-15177559	HCF	heart:	n/a
35	chr20:15176830-15176880	NHDF-neo	bronchial:	n/a
36	chr20:15176557-15176607	NT2-D1	testis:	n/a
37	chr20:15176557-15176607	HL-60	blood:	n/a
38	chr20:15176830-15176880	HEEpiC	esophagus:	n/a
39	chr20:15176557-15176607	IMR90	lung:	fetal
40	chr20:15176830-15176880	Hela-S3	cervix:	n/a
41	chr20:15176830-15176880	BE2_C	brain:	n/a
42	chr20:15177509-15177559	NB4	blood:	n/a
43	chr20:15177509-15177559	ovcar-3	ovarian:	n/a
44	chr20:15176557-15176607	AG04449	skin:	fetal
45	chr20:15177509-15177559	SKMC	muscle:	n/a
46	chr20:15176557-15176607	MCF-7	breast:	n/a
47	chr20:15176557-15176607	MCF10A-Er-Src	breast:	n/a
48	chr20:15177509-15177559	MCF10A-Er-Src	breast:	n/a
49	chr20:15176830-15176880	CMK	blood:	n/a
50	chr20:15176830-15176880	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14316387..14318274-chr20:15215878..15217670,2	MCF-7	breast:
2	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:
3	chr20:15213744..15214594-chr5:107680986..107681674,2	MCF-7	breast:
4	chr20:14857662..14859546-chr20:15214980..15217486,2	MCF-7	breast:
5	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
6	chr20:15280200..15282422-chr20:15286811..15288380,2	MCF-7	breast:
7	chr20:15222565..15225391-chr20:15228675..15231649,2	MCF-7	breast:
8	chr20:15222565..15225391-chr20:15228675..15231649,2	MCF-7	breast:
9	chr20:15279663..15281630-chr20:15285386..15287786,2	MCF-7	breast:

Variant related genes	Relation type
MACROD2	TF binding region
RNA5SP475	TF binding region
MACROD2	CpG island
RNA5SP475	CpG island
ENSG00000125848	chromatin interactions

Extended variants
information (count: 3659 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3659 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541994109	chr20:15159152-15159153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150383298	chr20:15159161-15159162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370266463	chr20:15159178-15159179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188306958	chr20:15159230-15159231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74686016	chr20:15159233-15159234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79932625	chr20:15159234-15159235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6034122	chr20:15159284-15159285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138077467	chr20:15159330-15159331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149467721	chr20:15159356-15159357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543949627	chr20:15159396-15159397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562574140	chr20:15159399-15159400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180710744	chr20:15159404-15159405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144601691	chr20:15159442-15159443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6105370	chr20:15159534-15159535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs41447447	chr20:15159550-15159551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs548852421	chr20:15159613-15159614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552583921	chr20:15159615-15159616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570743286	chr20:15159616-15159617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73258872	chr20:15159721-15159722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191026541	chr20:15159738-15159739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568184839	chr20:15159774-15159775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535664441	chr20:15159783-15159784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181846494	chr20:15159798-15159799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572443051	chr20:15159825-15159826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570637664	chr20:15159866-15159867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546071742	chr20:15159901-15159902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73258874	chr20:15159907-15159908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561988689	chr20:15159927-15159928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539661844	chr20:15159937-15159938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141591789	chr20:15159946-15159947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34803733	chr20:15159952-15159953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187025898	chr20:15159971-15159972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569970754	chr20:15160017-15160018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562451268	chr20:15160032-15160033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115514309	chr20:15160048-15160049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542093126	chr20:15160068-15160069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6110541	chr20:15160084-15160085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6110542	chr20:15160150-15160151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191464918	chr20:15160177-15160178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555336292	chr20:15160239-15160240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6110543	chr20:15160266-15160267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571995616	chr20:15160267-15160268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527619435	chr20:15160269-15160270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183285057	chr20:15160301-15160302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186860048	chr20:15160308-15160309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531626180	chr20:15160313-15160314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550111224	chr20:15160315-15160316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58299432	chr20:15160345-15160346	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557604625	chr20:15160365-15160366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111298608	chr20:15160403-15160404	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
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15158400-15159800	Weak transcription	Fetal Brain Male	brain
2	chr20:15159800-15160400	Enhancers	Fetal Brain Female	brain
3	chr20:15159800-15160600	Enhancers	Brain Germinal Matrix	brain
4	chr20:15159800-15161000	Enhancers	Fetal Brain Male	brain
5	chr20:15160000-15160400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:15160000-15160400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr20:15160000-15160400	Enhancers	Stomach Smooth Muscle	stomach
8	chr20:15160200-15160800	Enhancers	Colon Smooth Muscle	Colon
9	chr20:15160800-15162600	Weak transcription	Colon Smooth Muscle	Colon
10	chr20:15162600-15162800	Enhancers	Colon Smooth Muscle	Colon
11	chr20:15162600-15163200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:15162800-15163200	Weak transcription	Colon Smooth Muscle	Colon
13	chr20:15163200-15163600	Enhancers	Colon Smooth Muscle	Colon
14	chr20:15163200-15163800	Enhancers	NHEK	skin
15	chr20:15163200-15166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:15166000-15166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:15166000-15167000	Enhancers	Fetal Intestine Large	intestine
18	chr20:15166000-15167400	Enhancers	HepG2	liver
19	chr20:15166200-15166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:15166600-15167000	Enhancers	Fetal Intestine Small	intestine
21	chr20:15169400-15169600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr20:15169600-15170600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr20:15170600-15170800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr20:15171800-15172200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr20:15172000-15172400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr20:15172000-15172400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr20:15175800-15176000	Enhancers	Primary B cells from peripheral blood	blood
28	chr20:15175800-15176800	Enhancers	HMEC	breast
29	chr20:15176000-15177200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:15177000-15177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr20:15177200-15178400	Enhancers	Primary B cells from peripheral blood	blood
32	chr20:15178600-15179000	Active TSS	Lung	lung
33	chr20:15178600-15180800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr20:15179800-15180000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:15180000-15180600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr20:15180000-15181600	Enhancers	GM12878-XiMat	blood
37	chr20:15180000-15186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:15180800-15181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr20:15184600-15185600	Enhancers	Brain Germinal Matrix	brain
40	chr20:15185000-15185400	Enhancers	Fetal Heart	heart
41	chr20:15185600-15186600	Weak transcription	Brain Germinal Matrix	brain
42	chr20:15186000-15186600	Enhancers	NHDF-Ad	bronchial
43	chr20:15186600-15186800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr20:15186600-15186800	Enhancers	Brain Germinal Matrix	brain
45	chr20:15189200-15189600	Enhancers	GM12878-XiMat	blood
46	chr20:15189400-15189600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:15199200-15205000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:15199800-15202600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:15199800-15205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr20:15200000-15204600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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