Variant report

Variant	nsv585450
Chromosome Location	chr20:14548676-14610289
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	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
6	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
9	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
10	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
11	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
12	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
13	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
14	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
15	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
17	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
18	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
19	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
20	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
22	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
23	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
24	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
26	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
27	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
28	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
30	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
31	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
32	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
33	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
34	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
35	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
36	CEBPD	chr20:14590294-14590459	HepG2	liver:	n/a	n/a
37	CHD2	chr20:14590063-14590260	HepG2	liver:	n/a	n/a
38	CTCF	chr20:14603577-14603623	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr20:14603560-14603710	NHEK	skin:	n/a	n/a
40	CTCF	chr20:14603620-14603770	GM12864	blood:	n/a	n/a
41	CTCF	chr20:14603560-14603710	GM12865	blood:	n/a	n/a
42	CTCF	chr20:14603540-14603690	HPF	lung:	n/a	n/a
43	CTCF	chr20:14603542-14603727	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:14603580-14603730	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr20:14603520-14603670	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr20:14603420-14603570	GM12872	blood:	n/a	n/a
47	CTCF	chr20:14565860-14566010	GM12865	blood:	n/a	n/a
48	CTCF	chr20:14603520-14603670	HRE	kidney:	n/a	n/a
49	CTCF	chr20:14603540-14603690	BJ	skin:	n/a	n/a
50	CTCF	chr20:14603536-14603679	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
2	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
3	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:

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

Variant related genes	Relation type
MACROD2-IT1	TF binding region

Extended variants
information (count: 1917 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1917 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6110333	chr20:14548676-14548677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145055361	chr20:14548753-14548754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539784397	chr20:14548831-14548832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147557931	chr20:14548970-14548971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576533834	chr20:14549015-14549016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76478358	chr20:14549065-14549066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555852156	chr20:14549112-14549113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574104726	chr20:14549119-14549120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543424816	chr20:14549152-14549153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113949272	chr20:14549272-14549273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541623813	chr20:14549292-14549293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6079495	chr20:14549318-14549319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559562038	chr20:14549358-14549359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577916326	chr20:14549401-14549402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563122777	chr20:14549403-14549404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187192120	chr20:14549442-14549443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537459031	chr20:14549447-14549448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs16994683	chr20:14549448-14549449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189930093	chr20:14549453-14549454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369949565	chr20:14549480-14549481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182618984	chr20:14549544-14549545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150106878	chr20:14549582-14549583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529037692	chr20:14549592-14549593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547602997	chr20:14549609-14549610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2423822	chr20:14549624-14549625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374798068	chr20:14549630-14549631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369228202	chr20:14549682-14549683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551734722	chr20:14549717-14549718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570038414	chr20:14549754-14549755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372959573	chr20:14549776-14549777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77682868	chr20:14549829-14549830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555539624	chr20:14549846-14549847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574070874	chr20:14549866-14549867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542941467	chr20:14549881-14549882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534854875	chr20:14549915-14549916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149202640	chr20:14549930-14549931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577854376	chr20:14549931-14549932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80291865	chr20:14549941-14549942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554448712	chr20:14549945-14549946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575897715	chr20:14549988-14549989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543412745	chr20:14550002-14550003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187751798	chr20:14550018-14550019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528978122	chr20:14550081-14550082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139031963	chr20:14550107-14550108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192227798	chr20:14550122-14550123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528303036	chr20:14550133-14550134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533177337	chr20:14550150-14550151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566287168	chr20:14550151-14550152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540094223	chr20:14550153-14550154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551655195	chr20:14550285-14550286	Weak transcription Enhancers	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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:14543600-14549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:14547600-14548800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr20:14548200-14549800	Enhancers	NHEK	skin
6	chr20:14548600-14549000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:14548600-14549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:14548600-14549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:14548600-14549800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14548600-14549800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:14548600-14549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:14548600-14550000	Enhancers	HMEC	breast
13	chr20:14548600-14550400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:14548600-14551000	Enhancers	HSMM	muscle
15	chr20:14548800-14549200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr20:14548800-14549800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr20:14548800-14550000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr20:14549000-14549400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:14549000-14549400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr20:14549000-14549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr20:14549000-14549600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:14549000-14549600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:14549000-14549800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:14549000-14549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:14549000-14549800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr20:14549000-14549800	Enhancers	HSMMtube	muscle
27	chr20:14549000-14550000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr20:14549400-14550000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:14549400-14550200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:14549400-14551200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr20:14549800-14550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr20:14549800-14556800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:14550200-14551000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:14550200-14551400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr20:14551200-14551600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr20:14551400-14551800	Enhancers	Colon Smooth Muscle	Colon
37	chr20:14551600-14551800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:14551600-14552000	Enhancers	Fetal Heart	heart
39	chr20:14556600-14557800	Enhancers	Liver	Liver
40	chr20:14556800-14557200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr20:14556800-14557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:14556800-14557400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr20:14557000-14557400	Enhancers	Fetal Intestine Large	intestine
44	chr20:14557200-14563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr20:14557400-14561200	Weak transcription	Fetal Intestine Large	intestine
46	chr20:14557800-14561200	Weak transcription	Liver	Liver
47	chr20:14560600-14561000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:14560600-14561600	Enhancers	Fetal Brain Female	brain
49	chr20:14560800-14562000	Enhancers	A549	lung
50	chr20:14561000-14561800	Enhancers	Stomach Mucosa	stomach

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