Variant report

Variant	nsv585447
Chromosome Location	chr20:14529657-14573967
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	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
4	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
7	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
8	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
9	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
10	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
11	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
13	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
15	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
17	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
18	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
19	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
20	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
22	CTCF	chr20:14542660-14542810	HBMEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
23	CTCF	chr20:14542632-14542800	LNCaP	prostate:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
24	CTCF	chr20:14542640-14542790	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
25	CTCF	chr20:14542620-14542770	AG04449	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
26	CTCF	chr20:14542680-14542830	HVMF	connective:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
27	CTCF	chr20:14542681-14542758	HUVEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
28	CTCF	chr20:14542620-14542770	HVMF	connective:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
29	CTCF	chr20:14542660-14542810	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
30	CTCF	chr20:14542620-14542770	AoAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
31	CTCF	chr20:14542660-14542810	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
32	CTCF	chr20:14542660-14542810	HPAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
33	CTCF	chr20:14542640-14542790	AoAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
34	CTCF	chr20:14542680-14542830	MCF-7	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
35	CTCF	chr20:14565860-14566010	GM12865	blood:	n/a	n/a
36	CTCF	chr20:14542660-14542810	AG09319	gingival:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
37	CTCF	chr20:14542645-14542789	LNCaP	prostate:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
38	CTCF	chr20:14542680-14542830	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
39	CTCF	chr20:14542760-14542910	NHLF	lung:	n/a	n/a
40	CTCF	chr20:14542640-14542790	HFF	foreskin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
41	CTCF	chr20:14542539-14542885	IMR90	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
42	CTCF	chr20:14542620-14542770	HCPEpiC	choroid plexus:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
43	CTCF	chr20:14542680-14542830	NHDF-neo	bronchial:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
44	CTCF	chr20:14542640-14542790	AG10803	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
45	CTCF	chr20:14542691-14542739	Lung_OC	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
46	CTCF	chr20:14542660-14542810	HCPEpiC	choroid plexus:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
47	CTCF	chr20:14542640-14542790	HMF	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
48	CTCF	chr20:14542640-14542790	AG04449	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
49	CTCF	chr20:14542600-14542750	NHDF-neo	bronchial:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
50	CUX1	chr20:14544779-14544803	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
2	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
3	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1

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

Extended variants
information (count: 1589 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13039768	chr20:14529657-14529658	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534913247	chr20:14529660-14529661	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553332703	chr20:14529708-14529709	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182889550	chr20:14529734-14529735	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115746006	chr20:14529736-14529737	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs557397268	chr20:14529744-14529745	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73901277	chr20:14529766-14529767	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543164622	chr20:14529797-14529798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565193111	chr20:14530693-14530694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532705764	chr20:14530699-14530700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544930458	chr20:14530713-14530714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368178385	chr20:14530757-14530758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563135335	chr20:14530759-14530760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192324461	chr20:14530787-14530788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144765584	chr20:14530811-14530812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557564524	chr20:14530821-14530822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555315027	chr20:14530835-14530836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567383788	chr20:14530847-14530848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372445086	chr20:14530912-14530913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375772098	chr20:14530977-14530978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528268037	chr20:14531046-14531047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2423813	chr20:14531053-14531054	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs6079487	chr20:14531093-14531094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78212591	chr20:14531128-14531129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538546222	chr20:14531151-14531152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184350934	chr20:14531154-14531155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569132538	chr20:14531157-14531158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377112471	chr20:14531168-14531169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536279059	chr20:14531177-14531178	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553091715	chr20:14531219-14531220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559699538	chr20:14531240-14531241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188706906	chr20:14531256-14531257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573007264	chr20:14531259-14531260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113137921	chr20:14531268-14531269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78437554	chr20:14531279-14531280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374803120	chr20:14531285-14531286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181140199	chr20:14531291-14531292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577414324	chr20:14531362-14531363	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369481255	chr20:14531387-14531388	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544557958	chr20:14531454-14531455	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs76535789	chr20:14531526-14531527	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55734129	chr20:14531527-14531528	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs80185978	chr20:14531528-14531529	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75438647	chr20:14531529-14531530	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs79838381	chr20:14531539-14531540	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs202136401	chr20:14531540-14531541	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs73901278	chr20:14531613-14531614	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369234198	chr20:14531615-14531616	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538639167	chr20:14531684-14531685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138784125	chr20:14531703-14531704	Inactive region	Chromatin interactive region	1 gene(s)	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
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

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14529600-14529800	ZNF genes & repeats	Gastric	stomach
2	chr20:14533200-14533400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14533400-14534800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14534200-14535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:14534200-14535400	Enhancers	HSMM	muscle
6	chr20:14534200-14535400	Enhancers	HSMMtube	muscle
7	chr20:14534200-14535600	Enhancers	Hela-S3	cervix
8	chr20:14534400-14537600	Enhancers	NHEK	skin
9	chr20:14534600-14534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:14534600-14535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:14534600-14535400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr20:14534600-14535400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr20:14534600-14537400	Enhancers	HMEC	breast
14	chr20:14534800-14535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:14534800-14535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:14534800-14537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:14535000-14537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:14535200-14535400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:14535200-14536200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:14535400-14540400	Weak transcription	HSMM	muscle
22	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:14535600-14536000	Weak transcription	Hela-S3	cervix
25	chr20:14535800-14537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:14536000-14536400	Enhancers	Hela-S3	cervix
27	chr20:14536200-14536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr20:14536200-14537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr20:14536400-14536800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:14536800-14537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:14537400-14540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:14537400-14540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:14537400-14540400	Weak transcription	HMEC	breast
34	chr20:14537600-14540400	Weak transcription	NHEK	skin
35	chr20:14540000-14541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:14540400-14540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:14540400-14540800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:14540400-14540800	Enhancers	HMEC	breast
39	chr20:14540400-14540800	Enhancers	HSMM	muscle
40	chr20:14540400-14541000	Enhancers	NHEK	skin
41	chr20:14540800-14542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:14540800-14542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:14540800-14545800	Weak transcription	HMEC	breast
44	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:14542400-14542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:14542800-14543800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr20:14542800-14546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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