Variant report

Variant	nsv1063430
Chromosome Location	chr20:14593867-14698300
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	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr20:14692815-14693406	A549	lung:	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	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
6	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
7	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14672674-14672924	GM12878	blood:	n/a	n/a
10	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
12	CEBPB	chr20:14677983-14678307	HepG2	liver:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
13	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
15	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
16	CEBPB	chr20:14653988-14654138	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr20:14653900-14654183	HepG2	liver:	n/a	n/a
18	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
19	CEBPB	chr20:14667964-14668256	A549	lung:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
20	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
22	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
23	CEBPB	chr20:14653831-14654181	A549	lung:	n/a	n/a
24	CEBPB	chr20:14678001-14678282	A549	lung:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
25	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
26	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
27	CEBPB	chr20:14665408-14665556	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
29	CEBPB	chr20:14653897-14654226	A549	lung:	n/a	n/a
30	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
31	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
32	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
33	CEBPB	chr20:14653868-14654331	A549	lung:	n/a	n/a
34	CEBPB	chr20:14666214-14666506	HepG2	liver:	n/a	chr20:14666339-14666352 chr20:14666339-14666350
35	CEBPB	chr20:14653862-14654241	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr20:14667947-14668293	HepG2	liver:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
37	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
38	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
40	CEBPB	chr20:14664747-14664910	HepG2	liver:	n/a	n/a
41	CEBPD	chr20:14613613-14613892	HepG2	liver:	n/a	n/a
42	CTCF	chr20:14603560-14603710	HMEC	breast:	n/a	n/a
43	CTCF	chr20:14690700-14690850	HMEC	breast:	n/a	n/a
44	CTCF	chr20:14686716-14686764	GM10248	blood:	n/a	n/a
45	CTCF	chr20:14664149-14664370	GM12878	blood:	n/a	n/a
46	CTCF	chr20:14603520-14603670	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:14613540-14613690	RPTEC	kidney:	n/a	n/a
48	CTCF	chr20:14690760-14690910	BE2_C	brain:	n/a	n/a
49	CTCF	chr20:14603540-14603690	AG10803	skin:	n/a	n/a
50	CTCF	chr20:14690793-14690905	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
2	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
3	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
4	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
5	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
6	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
7	chr20:14657146..14658733-chr20:17661268..17663723,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716
2	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
3	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
4	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
5	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
6	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
7	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
8	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
9	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
10	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
11	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714

Variant related genes	Relation type
MACROD2-IT1	TF binding region
ENSG00000125844	chromatin interactions
ENSG00000227927	chromatin interactions

Extended variants
information (count: 3384 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3384 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1932943	chr20:14593867-14593868	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200542184	chr20:14593879-14593880	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532981080	chr20:14593929-14593930	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs114685084	chr20:14593930-14593931	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536950932	chr20:14594006-14594007	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548938068	chr20:14594026-14594027	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142610783	chr20:14594031-14594032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535050197	chr20:14594039-14594040	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs6135207	chr20:14594093-14594094	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544071646	chr20:14594124-14594125	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369520788	chr20:14594132-14594133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs538817929	chr20:14594135-14594136	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569264873	chr20:14594141-14594142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs151021850	chr20:14594157-14594158	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs575982917	chr20:14594172-14594173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs544788470	chr20:14594197-14594198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs185734295	chr20:14594260-14594261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs190196409	chr20:14594262-14594263	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573535638	chr20:14594266-14594267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs541070030	chr20:14594274-14594275	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559173798	chr20:14594307-14594308	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs533055248	chr20:14594458-14594459	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs551113157	chr20:14594488-14594489	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs538201474	chr20:14594504-14594505	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs139610205	chr20:14594541-14594542	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs555266709	chr20:14594653-14594654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs144234533	chr20:14594662-14594663	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs147763202	chr20:14594679-14594680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs141254670	chr20:14594743-14594744	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs182639033	chr20:14594750-14594751	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs562417421	chr20:14594752-14594753	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs146945530	chr20:14594794-14594795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs77575750	chr20:14594804-14594805	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574998695	chr20:14594826-14594827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs540857691	chr20:14594835-14594836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs375138892	chr20:14594932-14594933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs557558498	chr20:14594954-14594955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186304470	chr20:14595013-14595014	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569458005	chr20:14595022-14595023	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs536875972	chr20:14595029-14595030	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs554961891	chr20:14595032-14595033	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113487627	chr20:14595044-14595045	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs112728413	chr20:14595057-14595058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113859771	chr20:14595063-14595064	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554052124	chr20:14595091-14595092	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs191199174	chr20:14595094-14595095	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs6110359	chr20:14595117-14595118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552936495	chr20:14595118-14595119	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs577636408	chr20:14595148-14595149	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs145819211	chr20:14595155-14595156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Williams Syndrome	20824207	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14590800-14597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:14592400-14597200	Weak transcription	Fetal Intestine Large	intestine
3	chr20:14592800-14594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:14593200-14598600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr20:14596400-14596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14596400-14596800	Enhancers	NHEK	skin
7	chr20:14596800-14598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:14597200-14597600	Enhancers	A549	lung
9	chr20:14597200-14598600	Enhancers	Fetal Intestine Large	intestine
10	chr20:14597200-14599400	Enhancers	Fetal Intestine Small	intestine
11	chr20:14597600-14598200	Enhancers	Stomach Mucosa	stomach
12	chr20:14597600-14598400	Flanking Active TSS	A549	lung
13	chr20:14597800-14598400	Enhancers	Fetal Kidney	kidney
14	chr20:14597800-14599200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr20:14598000-14598400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:14598200-14603400	Weak transcription	Stomach Mucosa	stomach
17	chr20:14598400-14599200	Enhancers	A549	lung
18	chr20:14598400-14603600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:14598600-14599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:14598600-14599400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:14598600-14599800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:14598600-14599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr20:14598600-14599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:14598800-14599400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr20:14599000-14599400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr20:14599000-14599400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:14599000-14599800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr20:14599000-14599800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr20:14599000-14600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr20:14599000-14600000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr20:14599200-14599600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:14599200-14599600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:14599400-14599600	Weak transcription	Fetal Intestine Small	intestine
34	chr20:14599400-14603400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:14599600-14600600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:14600600-14600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:14601200-14602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:14601200-14602000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr20:14601600-14602600	Enhancers	Ovary	ovary
40	chr20:14602600-14603600	Weak transcription	Ovary	ovary
41	chr20:14603200-14604000	Enhancers	A549	lung
42	chr20:14603400-14603800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:14603400-14604000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr20:14603400-14604000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:14603400-14604000	Enhancers	Stomach Mucosa	stomach
46	chr20:14603400-14604000	Enhancers	Hela-S3	cervix
47	chr20:14603400-14604600	Enhancers	HMEC	breast
48	chr20:14603600-14604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:14603600-14604000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:14603600-14604000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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