Variant report

Variant	nsv458877
Chromosome Location	chr20:14658870-14781684
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	ATF1	chr20:14706954-14707154	K562	blood:	n/a	n/a
2	ATF2	chr20:14725297-14725726	GM12878	blood:	n/a	n/a
3	ATF3	chr20:14692815-14693406	A549	lung:	n/a	n/a
4	BACH1	chr20:14702858-14702913	K562	blood:	n/a	n/a
5	BATF	chr20:14704304-14704567	GM12878	blood:	n/a	n/a
6	BATF	chr20:14725428-14725715	GM12878	blood:	n/a	n/a
7	BATF	chr20:14704765-14705024	GM12878	blood:	n/a	n/a
8	BATF	chr20:14725407-14725742	GM12878	blood:	n/a	n/a
9	BCL3	chr20:14681041-14681305	GM12878	blood:	n/a	n/a
10	BCL3	chr20:14681045-14681280	GM12878	blood:	n/a	n/a
11	BCL3	chr20:14692841-14693476	A549	lung:	n/a	chr20:14693105-14693113
12	BHLHE40	chr20:14680806-14681273	GM12878	blood:	n/a	n/a
13	BHLHE40	chr20:14672674-14672924	GM12878	blood:	n/a	n/a
14	BHLHE40	chr20:14704309-14704573	GM12878	blood:	n/a	n/a
15	CEBPB	chr20:14664747-14664910	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14779516-14779580	H1-hESC	embryonic stem cell:	n/a	chr20:14779546-14779557
17	CEBPB	chr20:14692892-14693574	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr20:14692769-14693600	A549	lung:	n/a	n/a
19	CEBPB	chr20:14693000-14693452	A549	lung:	n/a	n/a
20	CEBPB	chr20:14732003-14732304	A549	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
21	CEBPB	chr20:14732008-14732351	HepG2	liver:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
22	CEBPB	chr20:14667947-14668293	HepG2	liver:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
23	CEBPB	chr20:14692877-14693435	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr20:14732003-14732308	IMR90	lung:	n/a	chr20:14732170-14732181 chr20:14732170-14732183 chr20:14732172-14732183 chr20:14732170-14732183
25	CEBPB	chr20:14678001-14678282	A549	lung:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
26	CEBPB	chr20:14756937-14757139	A549	lung:	n/a	n/a
27	CEBPB	chr20:14667964-14668256	A549	lung:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
28	CEBPB	chr20:14693070-14693431	IMR90	lung:	n/a	n/a
29	CEBPB	chr20:14667957-14668265	Hela-S3	cervix:	n/a	chr20:14668099-14668110 chr20:14668097-14668108
30	CEBPB	chr20:14665408-14665556	HepG2	liver:	n/a	n/a
31	CEBPB	chr20:14666214-14666506	HepG2	liver:	n/a	chr20:14666339-14666352 chr20:14666339-14666350
32	CEBPB	chr20:14708519-14708659	H1-hESC	embryonic stem cell:	n/a	chr20:14708579-14708590
33	CEBPB	chr20:14756412-14756875	MCF-7	breast:	n/a	n/a
34	CEBPB	chr20:14708440-14708728	IMR90	lung:	n/a	chr20:14708579-14708590
35	CEBPB	chr20:14693084-14693447	HepG2	liver:	n/a	n/a
36	CEBPB	chr20:14692969-14693530	MCF-7	breast:	n/a	n/a
37	CEBPB	chr20:14677983-14678307	HepG2	liver:	n/a	chr20:14678123-14678134 chr20:14678124-14678133 chr20:14678122-14678135 chr20:14678122-14678133
38	CEBPB	chr20:14779446-14779642	HepG2	liver:	n/a	chr20:14779546-14779557
39	CEBPB	chr20:14708288-14708750	A549	lung:	n/a	chr20:14708579-14708590
40	CEBPB	chr20:14716911-14717116	HepG2	liver:	n/a	chr20:14716984-14716995
41	CEBPB	chr20:14708226-14708748	HepG2	liver:	n/a	chr20:14708579-14708590
42	CEBPB	chr20:14692977-14693503	A549	lung:	n/a	n/a
43	CEBPB	chr20:14693034-14693362	MCF-7	breast:	n/a	n/a
44	CHD2	chr20:14777993-14778007	HepG2	liver:	n/a	n/a
45	CHD2	chr20:14737473-14737585	HepG2	liver:	n/a	n/a
46	CHD2	chr20:14704417-14704689	GM12878	blood:	n/a	n/a
47	CREB1	chr20:14756518-14756798	A549	lung:	n/a	n/a
48	CTCF	chr20:14722320-14722470	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr20:14742640-14742790	SAEC	small airway:	n/a	n/a
50	CTCF	chr20:14758300-14758450	SAEC	small airway:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078714
2	lnc-C20orf7-3	chr20:14665489-14665605	NONHSAT078716

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

Extended variants
information (count: 3370 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3370 , 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	rs371395235	chr20:14659857-14659858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572070029	chr20:14659870-14659871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375959283	chr20:14659877-14659878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149104152	chr20:14659926-14659927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369025114	chr20:14659929-14659930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564598341	chr20:14659937-14659938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567858724	chr20:14659950-14659951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143028820	chr20:14659990-14659991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138506887	chr20:14659991-14659992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577947563	chr20:14660048-14660049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545380104	chr20:14660055-14660056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564174704	chr20:14660093-14660094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73612373	chr20:14660095-14660096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376317950	chr20:14660129-14660130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576051316	chr20:14660134-14660135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114354594	chr20:14660195-14660196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112786874	chr20:14660253-14660254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34379218	chr20:14660269-14660270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184267300	chr20:14660278-14660279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189888517	chr20:14660280-14660281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541303987	chr20:14660292-14660293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78419549	chr20:14660301-14660302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543639061	chr20:14660329-14660330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181462082	chr20:14660340-14660341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113897736	chr20:14660341-14660342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186192139	chr20:14660368-14660369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11431643	chr20:14660386-14660387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72536662	chr20:14660392-14660393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35754943	chr20:14660393-14660394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551798015	chr20:14660398-14660399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191043729	chr20:14660406-14660407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549041737	chr20:14660432-14660433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530868389	chr20:14660443-14660444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77083634	chr20:14660451-14660452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376038775	chr20:14660464-14660465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539519687	chr20:14660502-14660503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146226676	chr20:14660511-14660512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534868454	chr20:14660512-14660513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546827320	chr20:14660528-14660529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76722628	chr20:14660543-14660544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538991088	chr20:14660578-14660579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528045594	chr20:14660606-14660607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs180873716	chr20:14660613-14660614	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs551669726	chr20:14660678-14660679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555460383	chr20:14660694-14660695	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570296738	chr20:14660736-14660737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs137923347	chr20:14660757-14660758	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111821682	chr20:14660798-14660799	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556088769	chr20:14660870-14660871	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6034007	chr20:14660944-14660945	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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

Chromatin state (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14659800-14660600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr20:14659800-14661600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:14660000-14661000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:14660200-14660800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:14660400-14660800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:14660600-14661000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr20:14660600-14661000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr20:14660600-14661000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr20:14660600-14661400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:14661600-14662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr20:14662200-14662400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:14665400-14666400	Enhancers	Fetal Brain Female	brain
13	chr20:14665800-14666400	Enhancers	Fetal Brain Male	brain
14	chr20:14667400-14668800	Enhancers	HMEC	breast
15	chr20:14667600-14668600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:14667600-14668800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr20:14667600-14668800	Enhancers	NHEK	skin
18	chr20:14667600-14669000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:14667800-14668200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr20:14667800-14668400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:14668000-14668400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:14668400-14680800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:14668800-14678000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:14671000-14671200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:14671600-14672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:14672800-14673400	Enhancers	GM12878-XiMat	blood
27	chr20:14672800-14673600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:14673400-14675800	Weak transcription	GM12878-XiMat	blood
29	chr20:14674600-14674800	Enhancers	Pancreas	Pancrea
30	chr20:14674800-14681400	Weak transcription	Pancreas	Pancrea
31	chr20:14675400-14677800	Enhancers	Fetal Heart	heart
32	chr20:14675800-14676400	Enhancers	GM12878-XiMat	blood
33	chr20:14676000-14676400	Enhancers	Fetal Lung	lung
34	chr20:14676200-14676600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:14676400-14677800	Weak transcription	Fetal Lung	lung
36	chr20:14676400-14681200	Weak transcription	GM12878-XiMat	blood
37	chr20:14677000-14677800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:14677000-14677800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:14677000-14678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr20:14677200-14678600	Enhancers	Adipose Nuclei	Adipose
41	chr20:14677200-14678800	Enhancers	Colon Smooth Muscle	Colon
42	chr20:14677600-14677800	Enhancers	Fetal Kidney	kidney
43	chr20:14677600-14677800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr20:14677600-14678000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:14677600-14678200	Enhancers	Rectal Smooth Muscle	rectum
46	chr20:14677600-14678800	Enhancers	Liver	Liver
47	chr20:14677800-14678000	Enhancers	Fetal Lung	lung
48	chr20:14677800-14678000	Enhancers	NHEK	skin
49	chr20:14677800-14678200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:14677800-14679600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links