Variant report

Variant	nsv1064008
Chromosome Location	chr20:14477895-14540691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
2	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
3	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
4	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
5	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
6	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
7	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
10	CEBPB	chr20:14488022-14488063	A549	lung:	n/a	n/a
11	CEBPB	chr20:14495728-14495973	A549	lung:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
12	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr20:14477615-14478628	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:14478810-14478945	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
17	CEBPB	chr20:14495711-14495997	HepG2	liver:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
18	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
20	CHD2	chr20:14509586-14509607	HepG2	liver:	n/a	n/a
21	CHD2	chr20:14519099-14519406	GM12878	blood:	n/a	n/a
22	CTCF	chr20:14503791-14504009	NHEK	skin:	n/a	n/a
23	CTCF	chr20:14503780-14503930	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr20:14479340-14479490	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr20:14503800-14503950	HMEC	breast:	n/a	n/a
26	CTCF	chr20:14523740-14523890	BE2_C	brain:	n/a	n/a
27	CTCF	chr20:14503760-14503910	GM06990	blood:	n/a	n/a
28	CTCF	chr20:14479480-14479630	BE2_C	brain:	n/a	n/a
29	CTCF	chr20:14523780-14523930	BE2_C	brain:	n/a	n/a
30	CTCF	chr20:14503887-14503907	A549	lung:	n/a	n/a
31	CTCF	chr20:14516067-14516115	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr20:14479475-14479508	Fibrobl	skin:	n/a	n/a
33	CTCF	chr20:14503812-14503933	Fibrobl	skin:	n/a	n/a
34	CTCF	chr20:14479440-14479590	BE2_C	brain:	n/a	n/a
35	CTCF	chr20:14518840-14518990	GM12875	blood:	n/a	n/a
36	CTCF	chr20:14482380-14482530	HepG2	liver:	n/a	n/a
37	CTCF	chr20:14503880-14504030	NHEK	skin:	n/a	n/a
38	CUX1	chr20:14516116-14516127	GM12878	blood:	n/a	n/a
39	E2F4	chr20:14500940-14501125	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr20:14532516-14532716	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr20:14519082-14519182	GM12878	blood:	n/a	n/a
42	EP300	chr20:14534756-14535168	Hela-S3	cervix:	n/a	n/a
43	EP300	chr20:14517394-14517649	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr20:14518988-14519549	GM12878	blood:	n/a	n/a
45	EP300	chr20:14519016-14519441	GM12878	blood:	n/a	n/a
46	EP300	chr20:14499331-14499562	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr20:14477634-14478443	Hela-S3	cervix:	n/a	chr20:14478200-14478208 chr20:14478120-14478134 chr20:14478124-14478133
48	EP300	chr20:14517366-14517772	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr20:14516666-14518664	SK-N-SH	brain:	n/a	n/a
50	EP300	chr20:14499027-14499894	SK-N-SH	brain:	n/a	chr20:14499840-14499854

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
2	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
3	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
4	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
5	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
6	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
2	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
3	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716

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: 2282 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2282 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192300554	chr20:14477908-14477909	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541972611	chr20:14477913-14477914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558706767	chr20:14477914-14477915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79227669	chr20:14477975-14477976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527493601	chr20:14477996-14477997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs6135160	chr20:14478004-14478005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78989265	chr20:14478035-14478036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567857704	chr20:14478052-14478053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13040047	chr20:14478091-14478092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140734858	chr20:14478104-14478105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562076909	chr20:14478117-14478118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs568392298	chr20:14478164-14478165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529320017	chr20:14478185-14478186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200016651	chr20:14478192-14478193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547500977	chr20:14478203-14478204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77351376	chr20:14478204-14478205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185251803	chr20:14478212-14478213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7269525	chr20:14478215-14478216	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6135161	chr20:14478249-14478250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138150169	chr20:14478250-14478251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149552708	chr20:14478327-14478328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6105279	chr20:14478367-14478368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113029092	chr20:14478380-14478381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76447925	chr20:14478455-14478456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367028	chr20:14478501-14478502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189579649	chr20:14478538-14478539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116579795	chr20:14478541-14478542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545971362	chr20:14478574-14478575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549982772	chr20:14478626-14478627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564161231	chr20:14478629-14478630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531611369	chr20:14478648-14478649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554870574	chr20:14478675-14478676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563493125	chr20:14478732-14478733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543376152	chr20:14478799-14478800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562080588	chr20:14478833-14478834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529258046	chr20:14478873-14478874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547438388	chr20:14478889-14478890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139420231	chr20:14478896-14478897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181116915	chr20:14478929-14478930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533290768	chr20:14478930-14478931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201190237	chr20:14478937-14478938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528964460	chr20:14478950-14478951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548657291	chr20:14478954-14478955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367884920	chr20:14479023-14479024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573089868	chr20:14479041-14479042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143233236	chr20:14479042-14479043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184409800	chr20:14479063-14479064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376577	chr20:14479074-14479075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564768296	chr20:14479090-14479091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73901261	chr20:14479113-14479114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14462600-14488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14477200-14479200	Enhancers	Hela-S3	cervix
3	chr20:14477600-14478400	Flanking Active TSS	HUVEC	blood vessel
4	chr20:14477600-14479000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:14477800-14478000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:14477800-14478000	Enhancers	Fetal Lung	lung
7	chr20:14477800-14478200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:14477800-14478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:14478000-14479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:14478200-14479000	Weak transcription	Fetal Lung	lung
11	chr20:14478200-14479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:14478400-14479600	Enhancers	Brain Hippocampus Middle	brain
13	chr20:14478400-14479600	Enhancers	HUVEC	blood vessel
14	chr20:14478600-14478800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:14478600-14478800	Enhancers	Lung	lung
16	chr20:14478600-14479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:14478600-14479800	Enhancers	Fetal Kidney	kidney
18	chr20:14478600-14480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:14479000-14479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:14479000-14479800	Enhancers	Fetal Lung	lung
21	chr20:14479200-14479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:14479200-14479800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:14479200-14480000	Enhancers	Fetal Stomach	stomach
24	chr20:14479400-14479800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr20:14479400-14479800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr20:14479400-14479800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr20:14479400-14480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr20:14479400-14480400	Enhancers	Lung	lung
29	chr20:14479600-14479800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:14479600-14480000	Enhancers	Esophagus	oesophagus
31	chr20:14479600-14480600	Weak transcription	HUVEC	blood vessel
32	chr20:14479600-14484400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr20:14480600-14481200	Enhancers	HUVEC	blood vessel
34	chr20:14486000-14487200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr20:14486400-14486800	Enhancers	Brain Germinal Matrix	brain
36	chr20:14486400-14487200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:14486600-14487000	Enhancers	Fetal Brain Male	brain
38	chr20:14488400-14489000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:14488800-14489200	Enhancers	HUVEC	blood vessel
40	chr20:14489000-14499400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:14489200-14493000	Weak transcription	HUVEC	blood vessel
42	chr20:14491000-14491800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:14491400-14491800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr20:14493000-14493200	Enhancers	HUVEC	blood vessel
45	chr20:14493000-14494000	Enhancers	Fetal Lung	lung
46	chr20:14493200-14493800	Enhancers	Fetal Brain Male	brain
47	chr20:14493200-14493800	Enhancers	Ovary	ovary
48	chr20:14493200-14493800	Bivalent Enhancer	HUVEC	blood vessel
49	chr20:14493200-14494000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr20:14493200-14494000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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