Variant report

Variant	nsv458879
Chromosome Location	chr20:14685347-14813002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:808)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14811110-14811561	GM12878	blood:	n/a	n/a
3	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
4	ATF2	chr20:14811032-14811585	GM12878	blood:	n/a	n/a
5	ATF2	chr20:14810438-14810958	GM12878	blood:	n/a	n/a
6	ATF2	chr20:14810438-14811025	GM12878	blood:	n/a	n/a
7	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
8	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
9	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
10	BATF	chr20:14811171-14811517	GM12878	blood:	n/a	n/a
11	BATF	chr20:14810508-14810959	GM12878	blood:	n/a	n/a
12	BATF	chr20:14782350-14782619	GM12878	blood:	n/a	chr20:14782584-14782592
13	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
14	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
15	BATF	chr20:14810566-14810958	GM12878	blood:	n/a	n/a
16	BATF	chr20:14811158-14811471	GM12878	blood:	n/a	n/a
17	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
18	BCL11A	chr20:14811061-14811585	GM12878	blood:	n/a	chr20:14811164-14811173
19	BCL11A	chr20:14811187-14811493	GM12878	blood:	n/a	n/a
20	BCL11A	chr20:14810529-14810966	GM12878	blood:	n/a	chr20:14810705-14810714
21	BCL11A	chr20:14810584-14810953	GM12878	blood:	n/a	chr20:14810705-14810714
22	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
23	BHLHE40	chr20:14810570-14811822	GM12878	blood:	n/a	n/a
24	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
25	CEBPB	chr20:14809270-14809471	HepG2	liver:	n/a	n/a
26	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
27	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
28	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
29	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
31	CEBPB	chr20:14779446-14779642	HepG2	liver:	n/a	chr20:14779546-14779557
32	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
33	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
34	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
35	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
37	CEBPB	chr20:14809151-14809584	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr20:14809238-14809473	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr20:14812593-14812605	HepG2	liver:	n/a	n/a
40	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
41	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
42	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
43	CEBPB	chr20:14807944-14808247	A549	lung:	n/a	chr20:14808108-14808119
44	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
45	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
46	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
47	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
48	CEBPB	chr20:14807946-14808277	HepG2	liver:	n/a	chr20:14808108-14808119
49	CEBPB	chr20:14756412-14756875	MCF-7	breast:	n/a	n/a
50	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
2	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
3	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
4	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
5	chr20:14705956..14708856-chr20:14709274..14711884,2	K562	blood:
6	chr20:14769951..14772584-chr20:14781634..14783463,2	MCF-7	breast:
7	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
8	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
9	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
10	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
11	chr20:14725880..14727683-chr20:14729457..14731582,2	MCF-7	breast:
12	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
13	chr20:14803482..14806391-chr20:14809700..14811931,2	MCF-7	breast:
14	chr20:14744879..14746579-chr20:14747938..14749575,2	MCF-7	breast:
15	chr20:14755716..14758614-chr20:14760211..14762111,2	MCF-7	breast:
16	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
17	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
18	chr20:14757945..14761170-chr20:14762279..14765371,3	MCF-7	breast:
19	chr20:14688944..14691499-chr20:14692203..14695103,3	MCF-7	breast:
20	chr20:14741627..14743404-chr20:14744142..14746208,2	MCF-7	breast:
21	chr20:14767717..14771762-chr20:14774616..14777473,4	MCF-7	breast:
22	chr20:14733858..14735719-chr20:14744279..14746694,2	MCF-7	breast:
23	chr20:14606804..14608358-chr20:14690132..14692728,2	MCF-7	breast:
24	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:
25	chr20:14743071..14745118-chr20:14745452..14747052,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FLRT3-4	chr20:14812896-14813240	ucscGeneNc_uc002woy_1

No data

Variant related genes	Relation type
RPS10P2	TF binding region
ENSG00000227927	chromatin interactions

Extended variants
information (count: 3236 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3236 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135233	chr20:14685347-14685348	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372321079	chr20:14685381-14685382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546176187	chr20:14685383-14685384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575980042	chr20:14685401-14685402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6042871	chr20:14685442-14685443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576454284	chr20:14685453-14685454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543529057	chr20:14685454-14685455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184010084	chr20:14685494-14685495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529456783	chr20:14685495-14685496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140404054	chr20:14685521-14685522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386812719	chr20:14685527-14685528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59765435	chr20:14685528-14685529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188302021	chr20:14685539-14685540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541242657	chr20:14685542-14685543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570378571	chr20:14685545-14685546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372186842	chr20:14685566-14685567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537876687	chr20:14685601-14685602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371889809	chr20:14685602-14685603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142092095	chr20:14685658-14685659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151167252	chr20:14685660-14685661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368876226	chr20:14685692-14685693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535596554	chr20:14685746-14685747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533052077	chr20:14685748-14685749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180871788	chr20:14685757-14685758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139932334	chr20:14685854-14685855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569672572	chr20:14685872-14685873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185716116	chr20:14685894-14685895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560654304	chr20:14685897-14685898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527928995	chr20:14685910-14685911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6110400	chr20:14685930-14685931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369242903	chr20:14685957-14685958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190586084	chr20:14685958-14685959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371890834	chr20:14686006-14686007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562040613	chr20:14686038-14686039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181850285	chr20:14686048-14686049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78866758	chr20:14686233-14686234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374900350	chr20:14686277-14686278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2065558	chr20:14686297-14686298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187062673	chr20:14686306-14686307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149819395	chr20:14686310-14686311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112681791	chr20:14686317-14686318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113105512	chr20:14686327-14686328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190371988	chr20:14686348-14686349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531202962	chr20:14686375-14686376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549752411	chr20:14686376-14686377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568020773	chr20:14686458-14686459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111641717	chr20:14686465-14686466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11908351	chr20:14686509-14686510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181227494	chr20:14686529-14686530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185272017	chr20:14686533-14686534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14681600-14687200	Weak transcription	Liver	Liver
2	chr20:14681600-14698200	Weak transcription	Fetal Kidney	kidney
3	chr20:14682000-14688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:14682000-14689800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr20:14682200-14692200	Weak transcription	Fetal Heart	heart
6	chr20:14682200-14693000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:14685000-14686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:14685200-14685600	Enhancers	NHEK	skin
9	chr20:14685200-14686000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:14685600-14688800	Weak transcription	NHEK	skin
11	chr20:14686000-14688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:14686200-14694600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:14686400-14687400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:14687000-14687600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:14687200-14688000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:14687200-14688000	Flanking Active TSS	Liver	Liver
17	chr20:14687200-14689000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:14687200-14692800	Weak transcription	Ovary	ovary
19	chr20:14687400-14688000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr20:14687400-14689200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:14687600-14688600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr20:14687600-14688800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:14687600-14689200	Enhancers	Fetal Lung	lung
24	chr20:14687600-14692000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr20:14687800-14688200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr20:14688000-14689200	Enhancers	Liver	Liver
27	chr20:14688000-14691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr20:14688200-14689200	Enhancers	Stomach Mucosa	stomach
29	chr20:14688200-14690800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr20:14688200-14691200	Enhancers	Fetal Intestine Large	intestine
31	chr20:14688600-14688800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr20:14688600-14689400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:14688600-14690200	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:14688600-14690800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr20:14688600-14691000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr20:14688600-14693200	Enhancers	A549	lung
37	chr20:14688600-14693600	Enhancers	Fetal Intestine Small	intestine
38	chr20:14688800-14689200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:14688800-14689200	Enhancers	NHEK	skin
40	chr20:14688800-14691000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr20:14688800-14691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr20:14689000-14692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr20:14689200-14691200	Weak transcription	NHEK	skin
44	chr20:14689200-14691400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:14689200-14691600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:14689200-14692200	Weak transcription	Fetal Lung	lung
47	chr20:14689200-14692400	Weak transcription	Stomach Mucosa	stomach
48	chr20:14689200-14692800	Weak transcription	Liver	Liver
49	chr20:14689400-14690600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:14689800-14691200	Enhancers	Rectal Mucosa Donor 29	rectum

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