Variant report

Variant	nsv1062462
Chromosome Location	chr20:14569400-14609756
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	chr20:14603385-14603865	A549	lung:	n/a	n/a
3	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
5	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
6	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
7	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
8	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
9	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
10	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
11	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
13	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
14	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
16	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
17	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
18	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
19	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
20	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
21	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
22	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
23	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
24	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
25	CEBPD	chr20:14590294-14590459	HepG2	liver:	n/a	n/a
26	CHD2	chr20:14590063-14590260	HepG2	liver:	n/a	n/a
27	CTCF	chr20:14603540-14603690	AG09319	gingival:	n/a	n/a
28	CTCF	chr20:14603520-14603670	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr20:14603480-14603630	BE2_C	brain:	n/a	n/a
30	CTCF	chr20:14603540-14603690	GM12874	blood:	n/a	n/a
31	CTCF	chr20:14603540-14603690	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr20:14603513-14603733	MCF-7	breast:	n/a	n/a
33	CTCF	chr20:14603577-14603623	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr20:14603560-14603710	GM12865	blood:	n/a	n/a
35	CTCF	chr20:14603500-14603650	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr20:14603517-14603730	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr20:14603407-14603840	MCF-7	breast:	n/a	n/a
38	CTCF	chr20:14603460-14603610	BJ	skin:	n/a	n/a
39	CTCF	chr20:14603460-14603610	HCT-116	colon:	n/a	n/a
40	CTCF	chr20:14603580-14603730	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr20:14603660-14603810	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr20:14603580-14603730	HVMF	connective:	n/a	n/a
43	CTCF	chr20:14603540-14603690	HPF	lung:	n/a	n/a
44	CTCF	chr20:14603402-14603777	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr20:14603395-14603738	A549	lung:	n/a	n/a
46	CTCF	chr20:14603559-14603671	ProgFib	skin:	n/a	n/a
47	CTCF	chr20:14603520-14603670	A549	lung:	n/a	n/a
48	CTCF	chr20:14603560-14603710	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr20:14603538-14603723	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:14603520-14603670	HFF-Myc	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
2	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
2	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
3	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
4	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
5	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
6	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
7	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1

Variant related genes	Relation type
MACROD2-IT1	TF binding region

Extended variants
information (count: 1165 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1165 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542096316	chr20:14569401-14569402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115815433	chr20:14569408-14569409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11907024	chr20:14569424-14569425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554307226	chr20:14569427-14569428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572572861	chr20:14569432-14569433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115200857	chr20:14569447-14569448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558040020	chr20:14569448-14569449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372910202	chr20:14569450-14569451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543805466	chr20:14569503-14569504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562174781	chr20:14569544-14569545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574460649	chr20:14569574-14569575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541577272	chr20:14569589-14569590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4813163	chr20:14569602-14569603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2876380	chr20:14569619-14569620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552440298	chr20:14569644-14569645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564366389	chr20:14569673-14569674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531665668	chr20:14569784-14569785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11905109	chr20:14569848-14569849	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147701070	chr20:14569858-14569859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556321883	chr20:14569891-14569892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73899206	chr20:14569897-14569898	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs6079501	chr20:14569942-14569943	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs566225582	chr20:14569988-14569989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6042804	chr20:14569991-14569992	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554261548	chr20:14569995-14569996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557976685	chr20:14570068-14570069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576309033	chr20:14570120-14570121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561382085	chr20:14570152-14570153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115974805	chr20:14570229-14570230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574373485	chr20:14570266-14570267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541867740	chr20:14570303-14570304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201686820	chr20:14570319-14570320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559980830	chr20:14570330-14570331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185692912	chr20:14570348-14570349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545995503	chr20:14570360-14570361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564307132	chr20:14570361-14570362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531601532	chr20:14570366-14570367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550120191	chr20:14570417-14570418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs562066784	chr20:14570428-14570429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529282411	chr20:14570435-14570436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs187858481	chr20:14570440-14570441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs2253860	chr20:14570465-14570466	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192341445	chr20:14570475-14570476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373090317	chr20:14570494-14570495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184361620	chr20:14570533-14570534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35746021	chr20:14570534-14570535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4141731	chr20:14570535-14570536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569932692	chr20:14570567-14570568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188722954	chr20:14570633-14570634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142418323	chr20:14570638-14570639	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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14564800-14569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14569200-14569400	ZNF genes & repeats	Pancreas	Pancrea
3	chr20:14569800-14570600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14570600-14577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:14572600-14573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14572600-14573000	Enhancers	HMEC	breast
7	chr20:14574000-14574600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr20:14574200-14574600	Enhancers	Fetal Kidney	kidney
9	chr20:14574200-14575200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:14574600-14575000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:14575200-14580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr20:14575600-14575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:14575800-14576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:14575800-14576400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:14577800-14578200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:14578200-14578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:14578200-14578800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:14578200-14579800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:14578800-14579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:14579800-14580800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:14579800-14580800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:14580000-14580200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:14580000-14580400	Enhancers	Fetal Brain Male	brain
24	chr20:14581400-14581800	Enhancers	Liver	Liver
25	chr20:14584600-14585400	Enhancers	Stomach Mucosa	stomach
26	chr20:14589600-14590200	Enhancers	A549	lung
27	chr20:14589600-14590800	Enhancers	Liver	Liver
28	chr20:14589600-14590800	Enhancers	Fetal Intestine Small	intestine
29	chr20:14589800-14590400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:14589800-14591000	Enhancers	HepG2	liver
31	chr20:14590000-14590800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr20:14590000-14591000	Enhancers	Fetal Intestine Large	intestine
33	chr20:14590200-14590800	Flanking Active TSS	A549	lung
34	chr20:14590400-14591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr20:14590600-14590800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:14590800-14597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr20:14591000-14591400	Weak transcription	Fetal Intestine Large	intestine
38	chr20:14591000-14593200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr20:14591400-14592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr20:14591400-14592400	Enhancers	Fetal Intestine Large	intestine
41	chr20:14591800-14592800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr20:14592400-14592600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:14592400-14592600	Enhancers	Hela-S3	cervix
44	chr20:14592400-14597200	Weak transcription	Fetal Intestine Large	intestine
45	chr20:14592800-14594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:14593000-14593800	Enhancers	Adipose Nuclei	Adipose
47	chr20:14593200-14593400	Enhancers	Hela-S3	cervix
48	chr20:14593200-14598600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr20:14596400-14596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:14596400-14596800	Enhancers	NHEK	skin

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