Variant report

Variant	nsv833926
Chromosome Location	chr20:14410153-14572336
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	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:14433593-14433608	K562	blood:	n/a	n/a
4	BACH1	chr20:14549483-14549672	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	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
8	BCL11A	chr20:14519106-14519411	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	BHLHE40	chr20:14412360-14412447	GM12878	blood:	n/a	n/a
12	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
13	BHLHE40	chr20:14413607-14413707	GM12878	blood:	n/a	n/a
14	BRCA1	chr20:14462597-14462814	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
19	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
20	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
21	CEBPB	chr20:14424801-14425080	A549	lung:	n/a	chr20:14424934-14424945
22	CEBPB	chr20:14425937-14426328	IMR90	lung:	n/a	n/a
23	CEBPB	chr20:14429993-14430289	A549	lung:	n/a	chr20:14430150-14430161
24	CEBPB	chr20:14421894-14422203	A549	lung:	n/a	chr20:14422047-14422058
25	CEBPB	chr20:14488022-14488063	A549	lung:	n/a	n/a
26	CEBPB	chr20:14477615-14478628	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
28	CEBPB	chr20:14471046-14471218	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr20:14451786-14451962	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
32	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
33	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
34	CEBPB	chr20:14415080-14415385	A549	lung:	n/a	n/a
35	CEBPB	chr20:14421855-14422247	IMR90	lung:	n/a	chr20:14422047-14422058
36	CEBPB	chr20:14495711-14495997	HepG2	liver:	n/a	chr20:14495851-14495862 chr20:14495851-14495864
37	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:14424786-14425069	IMR90	lung:	n/a	chr20:14424934-14424945
39	CEBPB	chr20:14478810-14478945	HepG2	liver:	n/a	n/a
40	CEBPB	chr20:14415089-14415337	MCF-7	breast:	n/a	n/a
41	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
42	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
43	CEBPB	chr20:14430047-14430271	Hela-S3	cervix:	n/a	chr20:14430150-14430161
44	CEBPB	chr20:14460495-14460749	HepG2	liver:	n/a	chr20:14460578-14460589
45	CEBPB	chr20:14430041-14430324	A549	lung:	n/a	chr20:14430150-14430161
46	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
47	CEBPB	chr20:14415059-14415419	IMR90	lung:	n/a	n/a
48	CEBPB	chr20:14457842-14458199	IMR90	lung:	n/a	n/a
49	CEBPB	chr20:14429979-14430347	IMR90	lung:	n/a	chr20:14430150-14430161
50	CEBPB	chr20:14430046-14430292	HepG2	liver:	n/a	chr20:14430150-14430161

No.	Distal block	Cell Line	Cell type
1	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
2	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
3	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
4	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
5	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
6	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
7	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
8	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
9	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
10	chr20:14487196..14489290-chr20:14493950..14495618,2	MCF-7	breast:
11	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:

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

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: 5593 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:5593 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545336062	chr20:14412027-14412028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565478376	chr20:14412088-14412089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35792018	chr20:14412095-14412096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572519758	chr20:14412124-14412125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17226992	chr20:14412326-14412327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113164529	chr20:14412343-14412344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142346169	chr20:14412450-14412451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6135144	chr20:14412500-14412501	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6079436	chr20:14412502-14412503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563478570	chr20:14412529-14412530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532448252	chr20:14412532-14412533	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552156898	chr20:14412582-14412583	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565879846	chr20:14412593-14412594	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534501679	chr20:14412596-14412597	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183140024	chr20:14412627-14412628	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567811355	chr20:14412656-14412657	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553152251	chr20:14412677-14412678	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187675528	chr20:14412723-14412724	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576716656	chr20:14412733-14412734	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539341221	chr20:14412765-14412766	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35733982	chr20:14412770-14412771	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369257242	chr20:14412788-14412789	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572636158	chr20:14412795-14412796	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192775557	chr20:14412806-14412807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373436859	chr20:14412807-14412808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146437019	chr20:14412823-14412824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543899577	chr20:14412843-14412844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563706218	chr20:14412914-14412915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76595951	chr20:14412967-14412968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552477075	chr20:14412980-14412981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559362627	chr20:14413031-14413032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71335960	chr20:14413062-14413063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200895995	chr20:14413063-14413064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36053381	chr20:14413073-14413074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35409599	chr20:14413075-14413076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7343969	chr20:14413116-14413117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183732467	chr20:14413161-14413162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13040558	chr20:14413162-14413163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565270350	chr20:14413207-14413208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35577212	chr20:14413211-14413212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530522369	chr20:14413220-14413221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550377368	chr20:14413331-14413332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79453392	chr20:14413334-14413335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189613397	chr20:14413362-14413363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559231700	chr20:14413363-14413364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566242573	chr20:14413370-14413371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6042729	chr20:14413392-14413393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535276541	chr20:14413393-14413394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6033961	chr20:14413442-14413443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561533697	chr20:14413671-14413672	Enhancers Weak transcription	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:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14412000-14413000	Enhancers	Hela-S3	cervix
2	chr20:14412200-14412400	Enhancers	Fetal Heart	heart
3	chr20:14412400-14412600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr20:14412400-14412800	Flanking Active TSS	Fetal Heart	heart
5	chr20:14412400-14413000	Enhancers	GM12878-XiMat	blood
6	chr20:14412800-14413000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:14412800-14414000	Enhancers	Fetal Heart	heart
8	chr20:14413000-14413200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr20:14413000-14415000	Weak transcription	Hela-S3	cervix
10	chr20:14413800-14414000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:14414200-14415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:14414200-14416200	Enhancers	HMEC	breast
13	chr20:14414600-14416200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:14414600-14416200	Enhancers	NHEK	skin
15	chr20:14414800-14416000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:14415000-14415800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr20:14415000-14416000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:14415000-14416000	Enhancers	Hela-S3	cervix
19	chr20:14415000-14420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:14415200-14416000	Enhancers	NHDF-Ad	bronchial
21	chr20:14415400-14416200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:14416200-14418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:14416200-14418800	Weak transcription	NHEK	skin
24	chr20:14418800-14419200	Enhancers	NHEK	skin
25	chr20:14418800-14419800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14419800-14421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr20:14420400-14421600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr20:14420600-14420800	Enhancers	HMEC	breast
29	chr20:14420600-14421000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr20:14420800-14421400	Weak transcription	HMEC	breast
31	chr20:14421000-14421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr20:14421400-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr20:14421400-14422400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:14421400-14422400	Enhancers	HMEC	breast
35	chr20:14421800-14422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:14421800-14422200	Enhancers	NHDF-Ad	bronchial
37	chr20:14422000-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:14422000-14422400	Enhancers	HUVEC	blood vessel
39	chr20:14422200-14424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:14422200-14425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:14422200-14425800	Weak transcription	NHDF-Ad	bronchial
42	chr20:14422200-14426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:14422400-14425400	Weak transcription	HUVEC	blood vessel
44	chr20:14422400-14426000	Weak transcription	HMEC	breast
45	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:14424400-14425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:14424800-14425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:14425200-14426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links