Variant report

Variant	nsv1063411
Chromosome Location	chr20:14524404-14658870
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	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
4	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
8	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
12	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
13	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
15	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
16	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
17	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
18	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
19	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr20:14653868-14654331	A549	lung:	n/a	n/a
21	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
22	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
23	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
24	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
25	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
26	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
27	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
29	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
31	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
32	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
33	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
34	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
35	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
36	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
37	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
39	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
40	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
42	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
43	CEBPB	chr20:14653831-14654181	A549	lung:	n/a	n/a
44	CEBPB	chr20:14653900-14654183	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
46	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
47	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
48	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
49	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
50	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302

No.	Distal block	Cell Line	Cell type
1	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
2	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
3	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
4	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:
5	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
6	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
7	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
2	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
3	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
4	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
5	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
6	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
7	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
8	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
9	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
10	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
11	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2

Variant related genes	Relation type
ENSG00000227563	TF binding region
MACROD2-IT1	TF binding region
ENSG00000125844	chromatin interactions
ENSG00000227563	chromatin interactions

Extended variants
information (count: 4258 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4258 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4239713	chr20:14524404-14524405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191769986	chr20:14524488-14524489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536616639	chr20:14524545-14524546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554667214	chr20:14524546-14524547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2327862	chr20:14524548-14524549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540318481	chr20:14524567-14524568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182629985	chr20:14524583-14524584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186944987	chr20:14524606-14524607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76707575	chr20:14524645-14524646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544424427	chr20:14524665-14524666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563163112	chr20:14524681-14524682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530336806	chr20:14524699-14524700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139796831	chr20:14524708-14524709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201363074	chr20:14524714-14524715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143272598	chr20:14524735-14524736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2327863	chr20:14524741-14524742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543485558	chr20:14524743-14524744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200280629	chr20:14524776-14524777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6105285	chr20:14524782-14524783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370930155	chr20:14524795-14524796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571396555	chr20:14524803-14524804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532321263	chr20:14524804-14524805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550520656	chr20:14524852-14524853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71335973	chr20:14524877-14524878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566794952	chr20:14524878-14524879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569083023	chr20:14524881-14524882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34508119	chr20:14524884-14524885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6135174	chr20:14524901-14524902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528873673	chr20:14524962-14524963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192793851	chr20:14524988-14524989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533957855	chr20:14525038-14525039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146200844	chr20:14525085-14525086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184342943	chr20:14525087-14525088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189072203	chr20:14525090-14525091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556483988	chr20:14525154-14525155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78084787	chr20:14525199-14525200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542151290	chr20:14525212-14525213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560877423	chr20:14525219-14525220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139188718	chr20:14525302-14525303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386812715	chr20:14525304-14525305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6131591	chr20:14525305-14525306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185347564	chr20:14525318-14525319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149837282	chr20:14525343-14525344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548662129	chr20:14525347-14525348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568956692	chr20:14525357-14525358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551503635	chr20:14525372-14525373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188973371	chr20:14525398-14525399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8183756	chr20:14525425-14525426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529930333	chr20:14525436-14525437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145805763	chr20:14525451-14525452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Williams Syndrome	20824207	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14523000-14529600	Weak transcription	Gastric	stomach
2	chr20:14524400-14526400	Enhancers	Fetal Heart	heart
3	chr20:14529600-14529800	ZNF genes & repeats	Gastric	stomach
4	chr20:14533200-14533400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:14533400-14534800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:14534200-14535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:14534200-14535400	Enhancers	HSMM	muscle
8	chr20:14534200-14535400	Enhancers	HSMMtube	muscle
9	chr20:14534200-14535600	Enhancers	Hela-S3	cervix
10	chr20:14534400-14537600	Enhancers	NHEK	skin
11	chr20:14534600-14534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:14534600-14535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:14534600-14535400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr20:14534600-14535400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:14534600-14537400	Enhancers	HMEC	breast
16	chr20:14534800-14535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr20:14534800-14535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:14534800-14537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:14535000-14537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:14535200-14535400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr20:14535200-14536200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:14535400-14540400	Weak transcription	HSMM	muscle
24	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr20:14535600-14536000	Weak transcription	Hela-S3	cervix
27	chr20:14535800-14537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:14536000-14536400	Enhancers	Hela-S3	cervix
29	chr20:14536200-14536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:14536200-14537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr20:14536400-14536800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:14536800-14537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:14537400-14540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:14537400-14540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:14537400-14540400	Weak transcription	HMEC	breast
36	chr20:14537600-14540400	Weak transcription	NHEK	skin
37	chr20:14540000-14541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:14540400-14540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:14540400-14540800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:14540400-14540800	Enhancers	HMEC	breast
41	chr20:14540400-14540800	Enhancers	HSMM	muscle
42	chr20:14540400-14541000	Enhancers	NHEK	skin
43	chr20:14540800-14542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:14540800-14542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:14540800-14545800	Weak transcription	HMEC	breast
46	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:14542400-14542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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