Variant report

Variant	nsv1064721
Chromosome Location	chr20:14384931-14648223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1239)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1239 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
3	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
5	ATF3	chr20:14386986-14387654	A549	lung:	n/a	n/a
6	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr20:14386976-14387666	A549	lung:	n/a	n/a
8	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr20:14433593-14433608	K562	blood:	n/a	n/a
11	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
12	BATF	chr20:14470918-14471200	GM12878	blood:	n/a	chr20:14471085-14471095 chr20:14471084-14471095
13	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
14	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
15	BCL3	chr20:14386841-14387786	A549	lung:	n/a	n/a
16	BCL3	chr20:14386930-14387690	A549	lung:	n/a	n/a
17	BHLHE40	chr20:14412360-14412447	GM12878	blood:	n/a	n/a
18	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
19	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
20	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
21	BHLHE40	chr20:14413607-14413707	GM12878	blood:	n/a	n/a
22	BRCA1	chr20:14395126-14395139	GM12878	blood:	n/a	n/a
23	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr20:14462597-14462814	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr20:14386912-14387794	A549	lung:	n/a	n/a
29	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
30	CEBPB	chr20:14429979-14430347	IMR90	lung:	n/a	chr20:14430150-14430161
31	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
32	CEBPB	chr20:14462450-14462948	IMR90	lung:	n/a	n/a
33	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
34	CEBPB	chr20:14424801-14425080	A549	lung:	n/a	chr20:14424934-14424945
35	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
36	CEBPB	chr20:14424769-14425107	HepG2	liver:	n/a	chr20:14424934-14424945
37	CEBPB	chr20:14405108-14405408	HepG2	liver:	n/a	chr20:14405256-14405267
38	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
39	CEBPB	chr20:14430041-14430324	A549	lung:	n/a	chr20:14430150-14430161
40	CEBPB	chr20:14387170-14387554	A549	lung:	n/a	n/a
41	CEBPB	chr20:14414522-14414713	HepG2	liver:	n/a	chr20:14414568-14414579
42	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
43	CEBPB	chr20:14460495-14460749	HepG2	liver:	n/a	chr20:14460578-14460589
44	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
46	CEBPB	chr20:14421873-14422215	HepG2	liver:	n/a	chr20:14422047-14422058
47	CEBPB	chr20:14424786-14425069	IMR90	lung:	n/a	chr20:14424934-14424945
48	CEBPB	chr20:14415080-14415385	A549	lung:	n/a	n/a
49	CEBPB	chr20:14424834-14425062	Hela-S3	cervix:	n/a	chr20:14424934-14424945
50	CEBPB	chr20:14478810-14478945	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
2	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
3	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
4	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
5	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
6	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
7	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
8	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
9	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
10	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
11	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
12	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
13	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
14	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
15	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
16	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
2	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
3	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
4	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
5	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
6	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
7	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
8	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719
9	lnc-C20orf7-3	chr20:14474125-14474154	NONHSAT078714
10	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
11	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
12	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716
13	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2

No data

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

Extended variants
information (count: 8540 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:8540 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548806869	chr20:14384940-14384941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568722847	chr20:14385019-14385020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538001014	chr20:14385027-14385028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73092483	chr20:14385044-14385045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77871218	chr20:14385076-14385077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568870433	chr20:14385093-14385094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533583296	chr20:14385139-14385140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553778738	chr20:14385144-14385145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199595812	chr20:14385148-14385149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545619527	chr20:14385158-14385159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573623708	chr20:14385213-14385214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367590316	chr20:14385244-14385245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200534135	chr20:14385252-14385253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11480909	chr20:14385254-14385255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6074728	chr20:14385282-14385283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542530138	chr20:14385309-14385310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144320812	chr20:14385360-14385361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146568017	chr20:14385489-14385490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562709931	chr20:14385505-14385506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531554233	chr20:14385531-14385532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533445378	chr20:14385576-14385577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537799453	chr20:14385628-14385629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531125650	chr20:14385681-14385682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551575096	chr20:14385773-14385774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540316860	chr20:14385787-14385788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560106936	chr20:14385800-14385801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529211430	chr20:14385821-14385822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186063198	chr20:14385824-14385825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79931022	chr20:14385836-14385837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531424279	chr20:14385866-14385867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6033957	chr20:14385915-14385916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115077914	chr20:14385937-14385938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201749921	chr20:14385938-14385939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377638624	chr20:14385939-14385940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397693255	chr20:14385943-14385944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375787234	chr20:14385944-14385945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533881416	chr20:14385953-14385954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116663873	chr20:14385961-14385962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375733707	chr20:14385995-14385996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567278045	chr20:14386000-14386001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536205774	chr20:14386037-14386038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556116735	chr20:14386125-14386126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575859734	chr20:14386126-14386127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538084854	chr20:14386127-14386128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571568837	chr20:14386252-14386253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367795385	chr20:14386327-14386328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150152227	chr20:14386392-14386393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75268759	chr20:14386441-14386442	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533774642	chr20:14386481-14386482	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560168442	chr20:14386485-14386486	Flanking Active TSS 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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Autism	20531469	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14365400-14387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14382400-14386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:14382600-14387600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr20:14383200-14387000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr20:14383200-14387600	Weak transcription	HSMM	muscle
6	chr20:14384000-14385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:14384600-14385400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:14385000-14386400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:14385200-14385400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr20:14386000-14386800	Enhancers	A549	lung
11	chr20:14386200-14388200	Enhancers	NHEK	skin
12	chr20:14386400-14386800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:14386600-14390000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:14386800-14387000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:14386800-14387200	Flanking Active TSS	A549	lung
16	chr20:14386800-14387800	Enhancers	Hela-S3	cervix
17	chr20:14386800-14388200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr20:14386800-14390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:14387000-14387200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:14387000-14387200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr20:14387000-14387400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:14387000-14387800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:14387000-14388200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:14387000-14388200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr20:14387000-14388200	Enhancers	HMEC	breast
26	chr20:14387000-14388400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:14387000-14389200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:14387200-14387400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr20:14387200-14387600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:14387200-14387600	Active TSS	A549	lung
31	chr20:14387200-14387600	Enhancers	HepG2	liver
32	chr20:14387200-14387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr20:14387200-14388200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr20:14387400-14388800	Enhancers	NHDF-Ad	bronchial
35	chr20:14387400-14389000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:14387600-14387800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:14387600-14388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:14387600-14388200	Flanking Active TSS	A549	lung
39	chr20:14387600-14388200	Enhancers	HSMM	muscle
40	chr20:14387800-14388400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:14387800-14394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr20:14388000-14388200	Enhancers	HSMMtube	muscle
43	chr20:14388200-14389200	Enhancers	A549	lung
44	chr20:14388200-14389400	Weak transcription	NHEK	skin
45	chr20:14388200-14391400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:14388200-14391400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:14388200-14392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:14388400-14392800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:14388400-14396000	Weak transcription	HSMMtube	muscle
50	chr20:14388800-14391600	Weak transcription	NHDF-Ad	bronchial

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