Variant report

Variant	nsv1059770
Chromosome Location	chr20:14432394-14549781
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	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
2	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:14433593-14433608	K562	blood:	n/a	n/a
4	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
6	BATF	chr20:14470918-14471200	GM12878	blood:	n/a	chr20:14471085-14471095 chr20:14471084-14471095
7	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
11	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr20:14462597-14462814	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:14456905-14457062	HepG2	liver:	n/a	chr20:14456912-14456923
16	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
17	CEBPB	chr20:14468942-14469246	HepG2	liver:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
18	CEBPB	chr20:14468833-14469298	Hela-S3	cervix:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
19	CEBPB	chr20:14471046-14471218	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr20:14488022-14488063	A549	lung:	n/a	n/a
21	CEBPB	chr20:14462739-14462794	A549	lung:	n/a	n/a
22	CEBPB	chr20:14460495-14460749	HepG2	liver:	n/a	chr20:14460578-14460589
23	CEBPB	chr20:14495728-14495973	A549	lung:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
24	CEBPB	chr20:14462450-14462948	IMR90	lung:	n/a	n/a
25	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
27	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr20:14495711-14495997	HepG2	liver:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
29	CEBPB	chr20:14478810-14478945	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:14451786-14451962	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr20:14457842-14458199	IMR90	lung:	n/a	n/a
32	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
33	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
34	CEBPB	chr20:14460493-14460767	IMR90	lung:	n/a	chr20:14460578-14460589
35	CEBPB	chr20:14477615-14478628	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
37	CEBPB	chr20:14468982-14469255	A549	lung:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
38	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr20:14462595-14462930	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr20:14457876-14458179	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr20:14509586-14509607	HepG2	liver:	n/a	n/a
42	CHD2	chr20:14519099-14519406	GM12878	blood:	n/a	n/a
43	CTCF	chr20:14542691-14542739	Lung_OC	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
44	CTCF	chr20:14542660-14542810	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
45	CTCF	chr20:14542680-14542830	MCF-7	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
46	CTCF	chr20:14503812-14503933	Fibrobl	skin:	n/a	n/a
47	CTCF	chr20:14503800-14503950	HMEC	breast:	n/a	n/a
48	CTCF	chr20:14542660-14542810	HBMEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
49	CTCF	chr20:14482380-14482530	HepG2	liver:	n/a	n/a
50	CTCF	chr20:14503887-14503907	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
2	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
3	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
4	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
5	chr19:30441690..30442493-chr20:14547650..14548282,2	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717
2	lnc-C20orf7-3	chr20:14474125-14474154	NONHSAT078714
3	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
4	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716

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: 4020 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4020 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541289653	chr20:14432434-14432435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73612355	chr20:14432472-14432473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529820743	chr20:14432498-14432499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549503589	chr20:14432553-14432554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371684191	chr20:14432586-14432587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147823630	chr20:14432624-14432625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532030893	chr20:14432628-14432629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6042737	chr20:14432637-14432638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532099147	chr20:14432710-14432711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565634180	chr20:14432747-14432748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534254093	chr20:14432776-14432777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550603680	chr20:14432795-14432796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548055510	chr20:14432813-14432814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141784893	chr20:14432850-14432851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543521126	chr20:14432888-14432889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6135149	chr20:14432925-14432926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186400643	chr20:14432954-14432955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536836411	chr20:14432990-14432991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190847689	chr20:14433078-14433079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183040017	chr20:14433079-14433080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141470308	chr20:14433273-14433274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527464382	chr20:14433320-14433321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370718397	chr20:14433419-14433420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540833531	chr20:14433431-14433432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117260598	chr20:14433530-14433531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371799641	chr20:14433577-14433578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75175569	chr20:14433584-14433585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573914251	chr20:14433593-14433594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543348640	chr20:14433617-14433618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs445417	chr20:14433643-14433644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528690592	chr20:14433648-14433649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187192444	chr20:14433651-14433652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147006076	chr20:14433736-14433737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543216090	chr20:14433763-14433764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113782386	chr20:14433816-14433817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141931150	chr20:14433825-14433826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545855012	chr20:14433831-14433832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150115065	chr20:14433891-14433892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561255892	chr20:14433892-14433893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191734888	chr20:14433903-14433904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369741482	chr20:14433938-14433939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539077942	chr20:14433947-14433948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551545815	chr20:14433955-14433956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530380407	chr20:14433976-14433977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550415880	chr20:14434017-14434018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138421110	chr20:14434044-14434045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539162145	chr20:14434153-14434154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182840406	chr20:14434155-14434156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565978774	chr20:14434168-14434169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535011734	chr20:14434183-14434184	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
2	chr20:14431000-14433200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:14432200-14432400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:14432200-14432400	Enhancers	NHEK	skin
5	chr20:14432400-14433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:14433400-14434200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr20:14433800-14434000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:14433800-14434000	Enhancers	Hela-S3	cervix
9	chr20:14433800-14434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:14434000-14434400	Enhancers	Fetal Kidney	kidney
11	chr20:14434200-14437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:14437400-14437600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr20:14444600-14451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:14447600-14451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:14447800-14448200	Active TSS	Gastric	stomach
16	chr20:14447800-14448200	Active TSS	Pancreas	Pancrea
17	chr20:14447800-14448400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:14447800-14448400	Active TSS	Colonic Mucosa	Colon
19	chr20:14447800-14448400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr20:14447800-14448400	Active TSS	A549	lung
21	chr20:14448000-14448200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr20:14448000-14448200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr20:14448000-14448400	Active TSS	Duodenum Mucosa	Duodenum
24	chr20:14448000-14448400	Active TSS	Stomach Mucosa	stomach
25	chr20:14448000-14448400	Enhancers	HepG2	liver
26	chr20:14448200-14448400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:14448200-14448400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr20:14448200-14450800	Weak transcription	Gastric	stomach
29	chr20:14448200-14450800	Weak transcription	Pancreas	Pancrea
30	chr20:14448200-14451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr20:14448400-14448600	Enhancers	Stomach Mucosa	stomach
32	chr20:14448400-14448600	Flanking Active TSS	A549	lung
33	chr20:14448400-14450800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr20:14448400-14450800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr20:14448400-14450800	Weak transcription	HepG2	liver
36	chr20:14448400-14451000	Weak transcription	Colonic Mucosa	Colon
37	chr20:14448400-14451000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr20:14448400-14451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:14448600-14450800	Weak transcription	Stomach Mucosa	stomach
40	chr20:14448600-14450800	Weak transcription	A549	lung
41	chr20:14450400-14450800	Enhancers	Liver	Liver
42	chr20:14450800-14451200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr20:14450800-14451200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr20:14450800-14451400	Flanking Active TSS	Liver	Liver
45	chr20:14450800-14451400	Enhancers	Stomach Mucosa	stomach
46	chr20:14450800-14451400	Flanking Active TSS	A549	lung
47	chr20:14450800-14451400	Flanking Active TSS	HepG2	liver
48	chr20:14450800-14451800	Enhancers	Duodenum Mucosa	Duodenum
49	chr20:14450800-14451800	Enhancers	Fetal Intestine Small	intestine
50	chr20:14450800-14451800	Enhancers	Gastric	stomach

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