Variant report

Variant	nsv912778
Chromosome Location	chr20:14949763-15207464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1491)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:15041045-15042049	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:14959886-14961038	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:14971646-14973208	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:14965101-14967567	HepG2	liver:	n/a	n/a
5	ARID3A	chr20:15139111-15139485	HepG2	liver:	n/a	n/a
6	ARID3A	chr20:15042539-15043096	HepG2	liver:	n/a	n/a
7	ARID3A	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
8	ARID3A	chr20:14986003-14986310	HepG2	liver:	n/a	n/a
9	ATF2	chr20:15142556-15143423	GM12878	blood:	n/a	n/a
10	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
11	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
12	ATF2	chr20:15142645-15143351	GM12878	blood:	n/a	n/a
13	ATF3	chr20:14966529-14967363	A549	lung:	n/a	n/a
14	ATF3	chr20:14966508-14967301	A549	lung:	n/a	n/a
15	ATF3	chr20:14965454-14966225	A549	lung:	n/a	n/a
16	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr20:14952997-14953174	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr20:15142631-15143004	GM12878	blood:	n/a	n/a
19	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
20	BATF	chr20:15041087-15041347	GM12878	blood:	n/a	n/a
21	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
22	BATF	chr20:15040971-15041310	GM12878	blood:	n/a	n/a
23	BATF	chr20:15143005-15143338	GM12878	blood:	n/a	n/a
24	BATF	chr20:15142669-15143382	GM12878	blood:	n/a	n/a
25	BCL11A	chr20:15180758-15180983	GM12878	blood:	n/a	n/a
26	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
27	BCL3	chr20:14966411-14967352	A549	lung:	n/a	n/a
28	BCL3	chr20:15180753-15181061	GM12878	blood:	n/a	n/a
29	BCL3	chr20:14965529-14966338	A549	lung:	n/a	chr20:14966177-14966184
30	BCL3	chr20:14966427-14967324	A549	lung:	n/a	n/a
31	BCLAF1	chr20:15142637-15143439	GM12878	blood:	n/a	n/a
32	BHLHE40	chr20:14977538-14977786	HepG2	liver:	n/a	n/a
33	BHLHE40	chr20:15041038-15041678	HepG2	liver:	n/a	n/a
34	BHLHE40	chr20:15180594-15181323	GM12878	blood:	n/a	n/a
35	BHLHE40	chr20:15042548-15042950	HepG2	liver:	n/a	n/a
36	BHLHE40	chr20:14965455-14966238	HepG2	liver:	n/a	n/a
37	BHLHE40	chr20:14960125-14960599	HepG2	liver:	n/a	n/a
38	BRCA1	chr20:15041931-15042029	HepG2	liver:	n/a	n/a
39	BRCA1	chr20:15054620-15054671	HepG2	liver:	n/a	n/a
40	BRCA1	chr20:14966739-14967191	HepG2	liver:	n/a	n/a
41	BRCA1	chr20:15042587-15042806	HepG2	liver:	n/a	n/a
42	BRCA1	chr20:15043714-15043822	HepG2	liver:	n/a	n/a
43	BRCA1	chr20:14960587-14960671	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr20:14965501-14966238	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
46	CEBPB	chr20:15042642-15043001	HepG2	liver:	n/a	chr20:15042893-15042904
47	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
48	CEBPB	chr20:14965601-14966250	HepG2	liver:	n/a	n/a
49	CEBPB	chr20:14966657-14967337	HCT-116	colon:	n/a	chr20:14967070-14967081
50	CEBPB	chr20:15042545-15043095	MCF-7	breast:	n/a	chr20:15042893-15042904

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176557-15176607	HCM	heart:	n/a
2	chr20:15176830-15176880	HCPEpiC	choroid plexus:	n/a
3	chr20:15177509-15177559	GM06990	blood:	n/a
4	chr20:15177509-15177559	NHBE	bronchial:	n/a
5	chr20:15176557-15176607	PFSK-1	brain:	n/a
6	chr20:15177509-15177559	HNPCEpiC	eye:	n/a
7	chr20:15177509-15177559	Hela-S3	cervix:	n/a
8	chr20:15176830-15176880	HL-60	blood:	n/a
9	chr20:15177509-15177559	SK-N-SH_RA	brain:	n/a
10	chr20:15176557-15176607	SK-N-SH_RA	brain:	n/a
11	chr20:15177509-15177559	MCF-7	breast:	n/a
12	chr20:15176830-15176880	HMEC	breast:	n/a
13	chr20:15177509-15177559	HL-60	blood:	n/a
14	chr20:15176557-15176607	AG04449	skin:	fetal
15	chr20:15177509-15177559	SKMC	muscle:	n/a
16	chr20:15177509-15177559	AoSMC	blood vessel:	n/a
17	chr20:15176557-15176607	SK-N-MC	brain:	n/a
18	chr20:15176557-15176607	BE2_C	brain:	n/a
19	chr20:15176557-15176607	HRPEpiC	eye:	n/a
20	chr20:15176830-15176880	NB4	blood:	n/a
21	chr20:15176557-15176607	H1-hESC	embryonic stem cell:	embryo
22	chr20:15176830-15176880	MCF10A-Er-Src	breast:	n/a
23	chr20:15177509-15177559	HUVEC	blood vessel:	n/a
24	chr20:15176557-15176607	SAEC	small airway:	n/a
25	chr20:15176830-15176880	RPTEC	kidney:	n/a
26	chr20:15176557-15176607	CMK	blood:	n/a
27	chr20:15176830-15176880	MCF-7	breast:	n/a
28	chr20:15176830-15176880	HRE	kidney:	n/a
29	chr20:15177509-15177559	AG04450	lung:	fetal
30	chr20:15177509-15177559	PFSK-1	brain:	n/a
31	chr20:15176830-15176880	ECC-1	luminal epithelium:	n/a
32	chr20:15176557-15176607	Hela-S3	cervix:	n/a
33	chr20:15176830-15176880	LNCaP	prostate:	n/a
34	chr20:15176830-15176880	SK-N-MC	brain:	n/a
35	chr20:15177509-15177559	HMEC	breast:	n/a
36	chr20:15176557-15176607	NB4	blood:	n/a
37	chr20:15176830-15176880	PFSK-1	brain:	n/a
38	chr20:15176557-15176607	HRE	kidney:	n/a
39	chr20:15177509-15177559	GM12878	blood:	n/a
40	chr20:15176830-15176880	HRCEpiC	kidney:	n/a
41	chr20:15177509-15177559	T-47D	breast:	n/a
42	chr20:15176830-15176880	K562	blood:	n/a
43	chr20:15177509-15177559	HCM	heart:	n/a
44	chr20:15177509-15177559	HRCEpiC	kidney:	n/a
45	chr20:15176830-15176880	CMK	blood:	n/a
46	chr20:15176557-15176607	MCF10A-Er-Src	breast:	n/a
47	chr20:15177509-15177559	RPTEC	kidney:	n/a
48	chr20:15176830-15176880	AG09319	gingival:	n/a
49	chr20:15176830-15176880	NT2-D1	testis:	n/a
50	chr20:15176830-15176880	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
2	chr20:14983136..14983867-chr7:139874694..139875444,2	MCF-7	breast:
3	chr20:14859239..14863091-chr20:15040405..15044044,4	MCF-7	breast:

No data

Variant related genes	Relation type
MACROD2	TF binding region
RNU6-1159P	TF binding region
RNU6-115P	TF binding region
MACROD2	CpG island
RNU6-1159P	CpG island
RNU6-115P	CpG island

Extended variants
information (count: 7576 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:7576 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7264266	chr20:14949763-14949764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540567921	chr20:14949769-14949770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116319293	chr20:14949780-14949781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532752565	chr20:14949783-14949784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150798380	chr20:14949807-14949808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369271437	chr20:14949808-14949809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529417696	chr20:14949822-14949823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563018616	chr20:14949824-14949825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115618283	chr20:14949900-14949901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549123207	chr20:14949918-14949919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143789203	chr20:14949919-14949920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534955932	chr20:14949969-14949970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374757645	chr20:14949980-14949981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74840492	chr20:14949983-14949984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142579861	chr20:14950007-14950008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3045701	chr20:14950008-14950009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187034864	chr20:14950027-14950028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534539809	chr20:14950044-14950045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397836541	chr20:14950046-14950047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs5840640	chr20:14950047-14950048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58667969	chr20:14950048-14950049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs913786	chr20:14950049-14950050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75005025	chr20:14950071-14950072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575768507	chr20:14950121-14950122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542738505	chr20:14950162-14950163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536840367	chr20:14950182-14950183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551441897	chr20:14950189-14950190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6079617	chr20:14950199-14950200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570183532	chr20:14950226-14950227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6034077	chr20:14950345-14950346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34049263	chr20:14950368-14950369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540957686	chr20:14950372-14950373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565418841	chr20:14950381-14950382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6043037	chr20:14950447-14950448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544571779	chr20:14950486-14950487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6043038	chr20:14950490-14950491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530563969	chr20:14950506-14950507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548792014	chr20:14950571-14950572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371881009	chr20:14950580-14950581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570853067	chr20:14950607-14950608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376534584	chr20:14950623-14950624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202085879	chr20:14950624-14950625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367762802	chr20:14950627-14950628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2423883	chr20:14950633-14950634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs546893793	chr20:14950679-14950680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192836928	chr20:14950695-14950696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532560032	chr20:14950724-14950725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550946016	chr20:14950761-14950762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150680107	chr20:14950785-14950786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556633773	chr20:14950797-14950798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	17363583	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Schizophrenia	19805367	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14944400-14953000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14952400-14953200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:14952800-14953200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr20:14952800-14953200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:14953000-14954000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:14953200-14953600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr20:14955000-14955600	Enhancers	Fetal Intestine Small	intestine
8	chr20:14955000-14955800	Enhancers	HepG2	liver
9	chr20:14955600-14959000	Weak transcription	Fetal Intestine Small	intestine
10	chr20:14955800-14956000	Enhancers	Gastric	stomach
11	chr20:14955800-14958200	Weak transcription	HepG2	liver
12	chr20:14956000-14961400	Weak transcription	Gastric	stomach
13	chr20:14958000-14958200	Enhancers	Liver	Liver
14	chr20:14958200-14959200	Weak transcription	Liver	Liver
15	chr20:14958200-14960600	Enhancers	HepG2	liver
16	chr20:14959000-14961000	Enhancers	Fetal Intestine Small	intestine
17	chr20:14959200-14961200	Enhancers	Liver	Liver
18	chr20:14959600-14960400	Enhancers	Fetal Intestine Large	intestine
19	chr20:14959800-14960600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr20:14960000-14960800	Enhancers	Hela-S3	cervix
21	chr20:14960000-14961000	Enhancers	HUVEC	blood vessel
22	chr20:14960000-14961200	Enhancers	A549	lung
23	chr20:14960600-14960800	Flanking Active TSS	HepG2	liver
24	chr20:14960600-14965400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr20:14960800-14961000	Enhancers	HepG2	liver
26	chr20:14960800-14965400	Weak transcription	Hela-S3	cervix
27	chr20:14961000-14961400	Weak transcription	Fetal Intestine Small	intestine
28	chr20:14961000-14961800	Enhancers	Pancreas	Pancrea
29	chr20:14961000-14962000	ZNF genes & repeats	HepG2	liver
30	chr20:14961000-14964800	Weak transcription	HUVEC	blood vessel
31	chr20:14961400-14961600	Enhancers	Gastric	stomach
32	chr20:14962000-14965000	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr20:14963200-14963600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:14963400-14963600	Weak transcription	Pancreas	Pancrea
35	chr20:14963400-14963800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:14963600-14965800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:14964000-14964400	Enhancers	HepG2	liver
38	chr20:14964200-14964600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:14964400-14964600	ZNF genes & repeats	A549	lung
40	chr20:14964400-14964600	Flanking Active TSS	HepG2	liver
41	chr20:14964600-14965200	Weak transcription	A549	lung
42	chr20:14964600-14965200	Enhancers	HepG2	liver
43	chr20:14964600-14966800	Enhancers	Fetal Intestine Large	intestine
44	chr20:14964600-14971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:14964800-14967800	Enhancers	HUVEC	blood vessel
46	chr20:14965000-14965200	Weak transcription	Fetal Intestine Small	intestine
47	chr20:14965000-14965600	Enhancers	Stomach Mucosa	stomach
48	chr20:14965000-14968000	Enhancers	Liver	Liver
49	chr20:14965200-14965600	Enhancers	A549	lung
50	chr20:14965200-14965800	Flanking Active TSS	HepG2	liver

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