Variant report

Variant	esv1798099
Chromosome Location	chr19:45664218-45681988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1514)
CpG islands
(count:1284)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:45672227-45672246	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45681488-45682369	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:45681621-45682077	K562	blood:	n/a	n/a
4	ARID3A	chr19:45665343-45665471	K562	blood:	n/a	n/a
5	ARID3A	chr19:45674646-45675015	K562	blood:	n/a	n/a
6	ATF1	chr19:45681004-45682199	K562	blood:	n/a	n/a
7	ATF1	chr19:45674539-45674944	K562	blood:	n/a	n/a
8	ATF2	chr19:45676954-45677442	GM12878	blood:	n/a	n/a
9	ATF2	chr19:45680892-45682228	GM12878	blood:	n/a	n/a
10	ATF3	chr19:45681371-45682278	K562	blood:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
11	ATF3	chr19:45681512-45682044	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
12	ATF3	chr19:45681519-45682167	H1-hESC	embryonic stem cell:	n/a	chr19:45681614-45681623 chr19:45681659-45681668
13	BACH1	chr19:45665315-45665512	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr19:45681211-45682392	A549	lung:	n/a	n/a
15	BCL3	chr19:45680260-45680594	GM12878	blood:	n/a	n/a
16	BCL3	chr19:45667219-45668376	A549	lung:	n/a	chr19:45667604-45667613 chr19:45668040-45668049
17	BCL3	chr19:45680734-45682586	A549	lung:	n/a	n/a
18	BCL3	chr19:45665257-45665611	A549	lung:	n/a	n/a
19	BCL3	chr19:45667623-45668207	GM12878	blood:	n/a	chr19:45668040-45668049
20	BCLAF1	chr19:45681169-45681637	GM12878	blood:	n/a	n/a
21	BCLAF1	chr19:45667776-45668310	GM12878	blood:	n/a	chr19:45668040-45668049
22	BHLHE40	chr19:45680390-45680590	K562	blood:	n/a	n/a
23	BHLHE40	chr19:45674723-45674906	K562	blood:	n/a	n/a
24	BHLHE40	chr19:45681127-45682679	HepG2	liver:	n/a	chr19:45682072-45682088
25	BHLHE40	chr19:45671912-45672323	K562	blood:	n/a	n/a
26	BHLHE40	chr19:45667744-45668176	GM12878	blood:	n/a	chr19:45667981-45667997
27	BHLHE40	chr19:45681236-45682748	GM12878	blood:	n/a	chr19:45682072-45682088
28	BHLHE40	chr19:45681463-45682616	A549	lung:	n/a	chr19:45682072-45682088
29	BHLHE40	chr19:45680931-45683148	K562	blood:	n/a	chr19:45682072-45682088
30	BRCA1	chr19:45681523-45682223	GM12878	blood:	n/a	n/a
31	BRCA1	chr19:45681173-45682297	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr19:45665452-45665509	H1-hESC	embryonic stem cell:	n/a	n/a
33	CBX3	chr19:45680249-45680632	K562	blood:	n/a	n/a
34	CBX3	chr19:45674509-45674866	K562	blood:	n/a	n/a
35	CBX3	chr19:45681243-45682890	K562	blood:	n/a	n/a
36	CCNT2	chr19:45665276-45665458	K562	blood:	n/a	n/a
37	CCNT2	chr19:45665866-45665922	K562	blood:	n/a	chr19:45665871-45665880
38	CCNT2	chr19:45681299-45682206	K562	blood:	n/a	n/a
39	CEBPB	chr19:45681189-45682144	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr19:45681430-45681812	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:45679115-45679244	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:45681306-45681973	MCF-7	breast:	n/a	n/a
43	CEBPB	chr19:45671221-45671417	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr19:45681010-45682133	IMR90	lung:	n/a	n/a
45	CEBPB	chr19:45681025-45682247	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr19:45679618-45679803	K562	blood:	n/a	n/a
47	CEBPB	chr19:45681322-45682131	K562	blood:	n/a	n/a
48	CEBPB	chr19:45678964-45679267	A549	lung:	n/a	n/a
49	CEBPB	chr19:45681392-45681867	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr19:45681219-45682117	HepG2	liver:	n/a	n/a

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45681580-45681630	PFSK-1	brain:	n/a
2	chr19:45681503-45681553	MCF-7	breast:	n/a
3	chr19:45681828-45681878	PrEC	prostate:	n/a
4	chr19:45681580-45681630	PFSK-1	brain:	n/a
5	chr19:45681503-45681553	MCF-7	breast:	n/a
6	chr19:45681828-45681878	PrEC	prostate:	n/a
7	chr19:45680969-45681019	GM06990	blood:	n/a
8	chr19:45681580-45681630	IMR90	lung:	fetal
9	chr19:45681828-45681878	AG04449	skin:	fetal
10	chr19:45681828-45681878	PANC-1	pancreas:	n/a
11	chr19:45680969-45681019	A549	lung:	n/a
12	chr19:45681716-45681766	HCPEpiC	choroid plexus:	n/a
13	chr19:45666371-45666421	NHDF-neo	bronchial:	n/a
14	chr19:45681828-45681878	RPTEC	kidney:	n/a
15	chr19:45664763-45664813	RPTEC	kidney:	n/a
16	chr19:45681503-45681553	AG09309	skin:	n/a
17	chr19:45680948-45680998	AG10803	skin:	n/a
18	chr19:45681510-45681560	NB4	blood:	n/a
19	chr19:45681487-45681537	AG04449	skin:	fetal
20	chr19:45681846-45681896	SK-N-SH_RA	brain:	n/a
21	chr19:45681945-45681995	AG04450	lung:	fetal
22	chr19:45681503-45681553	HCPEpiC	choroid plexus:	n/a
23	chr19:45666371-45666421	HL-60	blood:	n/a
24	chr19:45681580-45681630	T-47D	breast:	n/a
25	chr19:45680969-45681019	HEK293	kidney:	embryo
26	chr19:45681487-45681537	AG09309	skin:	n/a
27	chr19:45681846-45681896	HEEpiC	esophagus:	n/a
28	chr19:45664251-45664301	PrEC	prostate:	n/a
29	chr19:45681968-45682018	AG04450	lung:	fetal
30	chr19:45681503-45681553	A549	lung:	n/a
31	chr19:45681407-45681457	LNCaP	prostate:	n/a
32	chr19:45664763-45664813	LNCaP	prostate:	n/a
33	chr19:45681491-45681541	NH-A	brain:	n/a
34	chr19:45664609-45664659	HCPEpiC	choroid plexus:	n/a
35	chr19:45681945-45681995	GM12878	blood:	n/a
36	chr19:45681899-45681949	GM12878	blood:	n/a
37	chr19:45681987-45682037	Jurkat	blood:	n/a
38	chr19:45664251-45664301	HCM	heart:	n/a
39	chr19:45681968-45682018	SKMC	muscle:	n/a
40	chr19:45681987-45682037	MCF-7	breast:	n/a
41	chr19:45666371-45666421	GM12891	blood:	n/a
42	chr19:45681407-45681457	SK-N-MC	brain:	n/a
43	chr19:45664763-45664813	MCF10A-Er-Src	breast:	n/a
44	chr19:45681716-45681766	HIPEpiC	eye:	n/a
45	chr19:45681968-45682018	SAEC	small airway:	n/a
46	chr19:45664763-45664813	HL-60	blood:	n/a
47	chr19:45680948-45680998	HCT-116	colon:	n/a
48	chr19:45681487-45681537	PFSK-1	brain:	n/a
49	chr19:45666371-45666421	HNPCEpiC	eye:	n/a
50	chr19:45681968-45682018	NT2-D1	testis:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:45659656..45660364-chr19:45671813..45672348,2	MCF-7	breast:
2	chr19:45594874..45597676-chr19:45681810..45683655,2	K562	blood:
3	chr19:45674624..45677350-chr19:45825375..45827077,2	K562	blood:
4	chr19:45662322..45663842-chr19:45681568..45683237,2	K562	blood:
5	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
6	chr19:45615655..45617695-chr19:45672938..45674572,2	MCF-7	breast:
7	chr19:45675726..45677672-chr19:45752421..45754832,2	MCF-7	breast:
8	chr19:45658848..45663469-chr19:45680259..45684163,6	MCF-7	breast:
9	chr19:45662322..45668242-chr19:45680645..45684470,7	K562	blood:
10	chr19:45652567..45654233-chr19:45681921..45683559,2	MCF-7	breast:
11	chr19:45644450..45646816-chr19:45679774..45683109,3	MCF-7	breast:
12	chr19:45681420..45684587-chr19:45687242..45692393,7	MCF-7	breast:
13	chr19:45664797..45666644-chr19:45690247..45693088,2	K562	blood:
14	chr19:45663246..45665913-chr19:45689234..45691618,2	MCF-7	breast:
15	chr19:45673701..45675733-chr19:45689481..45691712,2	MCF-7	breast:
16	chr19:45594892..45596535-chr19:45681783..45683354,2	MCF-7	breast:
17	chr19:45667124..45670268-chr19:45680467..45683235,3	K562	blood:
18	chr19:45664293..45670548-chr19:45677917..45684715,10	MCF-7	breast:
19	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
20	chr19:45662769..45665493-chr19:45847031..45849570,2	MCF-7	breast:
21	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
22	chr19:45662986..45665751-chr19:45672149..45675841,4	MCF-7	breast:
23	chr19:45675317..45679355-chr19:45679533..45681845,4	K562	blood:
24	chr19:45665322..45665882-chr19:45841997..45842503,2	MCF-7	breast:
25	chr19:45639686..45641880-chr19:45681901..45684356,2	MCF-7	breast:
26	chr19:45665143..45666024-chr19:45751671..45752336,2	K562	blood:
27	chr19:45670098..45671750-chr19:45752252..45755179,2	MCF-7	breast:
28	chr19:45655086..45657605-chr19:45680853..45682730,2	MCF-7	breast:
29	chr19:45596183..45598071-chr19:45678820..45681016,3	K562	blood:
30	chr19:45666427..45667301-chr2:220638361..220639266,2	MCF-7	breast:
31	chr19:45665417..45665979-chr19:45751607..45752568,2	MCF-7	breast:
32	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
33	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
34	chr19:45675822..45679295-chr19:45679475..45683800,7	MCF-7	breast:
35	chr19:45581068..45583958-chr19:45681428..45684016,2	K562	blood:
36	chr19:45660357..45662141-chr19:45673721..45675839,2	MCF-7	breast:
37	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
38	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
39	chr19:45578352..45580821-chr19:45679388..45681588,2	K562	blood:
40	chr19:45646729..45650244-chr19:45666195..45669472,3	MCF-7	breast:
41	chr19:45662322..45668242-chr19:45680645..45684470,7	K562	blood:
42	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
43	chr19:45652739..45654632-chr19:45677367..45679374,2	MCF-7	breast:
44	chr19:45673214..45674833-chr19:45677772..45679460,2	K562	blood:
45	chr17:16341750..16342479-chr19:45681510..45682384,2	Hela-S3	cervix:
46	chr19:45675481..45678583-chr19:45681504..45683285,3	K562	blood:
47	chr19:45664265..45666960-chr19:45670245..45671965,2	K562	blood:
48	chr19:45661836..45664476-chr19:45669992..45671964,2	K562	blood:
49	chr19:45665641..45668911-chr19:45670300..45671967,3	K562	blood:
50	chr19:45579089..45581981-chr19:45667540..45670366,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267545	TF binding region
NKPD1	TF binding region
BLOC1S3	TF binding region
TRAPPC6A	TF binding region
ENSG00000267545	CpG island
NKPD1	CpG island
BLOC1S3	CpG island
TRAPPC6A	CpG island
ENSG00000104856	chromatin interactions
ENSG00000268341	chromatin interactions
ENSG00000267044	chromatin interactions
ENSG00000007047	chromatin interactions
ENSG00000267037	chromatin interactions
ENSG00000266958	chromatin interactions
ENSG00000175061	chromatin interactions
ENSG00000225157	chromatin interactions
ENSG00000104859	chromatin interactions
ENSG00000267545	chromatin interactions
ENSG00000170684	chromatin interactions
ENSG00000172927	chromatin interactions
ENSG00000142252	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000104892	chromatin interactions
ENSG00000130201	chromatin interactions
ENSG00000007255	chromatin interactions
ENSG00000104879	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000189114	chromatin interactions

Extended variants
information (count: 886 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:886 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11881409	chr19:45664218-45664219	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552448465	chr19:45664219-45664220	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs11881433	chr19:45664244-45664245	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550138510	chr19:45664330-45664331	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs534833375	chr19:45664335-45664336	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs554788530	chr19:45664373-45664374	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs116441461	chr19:45664409-45664410	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs16979707	chr19:45664414-45664415	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536670243	chr19:45664420-45664421	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs557034337	chr19:45664424-45664425	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs557220009	chr19:45664453-45664454	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs140769774	chr19:45664484-45664485	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs77214027	chr19:45664488-45664489	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs115341941	chr19:45664506-45664507	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs555070938	chr19:45664514-45664515	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs114308214	chr19:45664518-45664519	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs542441035	chr19:45664527-45664528	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs561941702	chr19:45664538-45664539	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs530951692	chr19:45664562-45664563	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs544309661	chr19:45664571-45664572	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs564193811	chr19:45664610-45664611	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs566863729	chr19:45664611-45664612	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs546642780	chr19:45664634-45664635	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs565998932	chr19:45664655-45664656	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs138433437	chr19:45664666-45664667	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs548448785	chr19:45664693-45664694	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs34237708	chr19:45664699-45664700	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs190305066	chr19:45664744-45664745	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs12461733	chr19:45664756-45664757	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557116292	chr19:45664772-45664773	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs570419206	chr19:45664803-45664804	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs149278627	chr19:45664837-45664838	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs539457333	chr19:45664860-45664861	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs552675860	chr19:45664876-45664877	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs12460178	chr19:45664890-45664891	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535738833	chr19:45664973-45664974	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs79288179	chr19:45664984-45664985	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs575437235	chr19:45664993-45664994	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs550178278	chr19:45664995-45664996	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs544370656	chr19:45665001-45665002	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs564619526	chr19:45665017-45665018	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs578022031	chr19:45665052-45665053	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs540650248	chr19:45665055-45665056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs182043716	chr19:45665066-45665067	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs528423689	chr19:45665067-45665068	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs116003753	chr19:45665071-45665072	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs371359798	chr19:45665099-45665100	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs77988397	chr19:45665100-45665101	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs186386651	chr19:45665104-45665105	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs189712384	chr19:45665169-45665170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1124 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45657800-45668200	Weak transcription	Right Atrium	heart
2	chr19:45660200-45674000	Weak transcription	A549	lung
3	chr19:45662000-45667000	Weak transcription	Spleen	Spleen
4	chr19:45662400-45667200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:45662600-45664400	Bivalent Enhancer	HepG2	liver
6	chr19:45662600-45666600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:45662600-45667600	Weak transcription	HUVEC	blood vessel
8	chr19:45662800-45664800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:45662800-45669000	Enhancers	Esophagus	oesophagus
10	chr19:45663000-45665000	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr19:45663400-45665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:45663400-45665400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr19:45663400-45665800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:45663600-45664600	Enhancers	Placenta	Placenta
15	chr19:45663600-45665400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:45663800-45664600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr19:45663800-45665000	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr19:45663800-45665000	Enhancers	Gastric	stomach
19	chr19:45663800-45665000	Enhancers	Pancreas	Pancrea
20	chr19:45663800-45665200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45663800-45665600	Enhancers	NHEK	skin
22	chr19:45664000-45664600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:45664000-45664800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr19:45664000-45665000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:45664000-45665000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
26	chr19:45664000-45665400	Enhancers	Lung	lung
27	chr19:45664000-45665400	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr19:45664000-45665400	Enhancers	HMEC	breast
29	chr19:45664000-45666400	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr19:45664000-45667600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:45664000-45670200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:45664200-45664400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:45664200-45664800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr19:45664200-45664800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr19:45664200-45665000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:45664200-45665400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr19:45664200-45667800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:45664200-45668400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:45664400-45664600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:45664400-45664600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:45664400-45664600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr19:45664400-45664600	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr19:45664400-45664800	Bivalent Enhancer	Fetal Lung	lung
44	chr19:45664600-45664800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr19:45664600-45665000	Bivalent Enhancer	HepG2	liver
46	chr19:45664600-45665200	Bivalent Enhancer	Placenta	Placenta
47	chr19:45664600-45665400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:45664600-45665600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr19:45664600-45667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:45664800-45665400	Enhancers	Ovary	ovary

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