Variant report

Variant	esv3420187
Chromosome Location	chr4:567777-570825
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	BACH1	chr4:570358-570603	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:569194-569394	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr4:569385-569452	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr4:570237-570616	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:569154-569260	NHEK	skin:	n/a	n/a
6	CTCF	chr4:569120-569270	HCPEpiC	choroid plexus:	n/a	chr4:569137-569150
7	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
8	FOXP2	chr4:570758-571006	SK-N-MC	brain:	n/a	n/a
9	FOXP2	chr4:570173-570487	SK-N-MC	brain:	n/a	n/a
10	FOXP2	chr4:570791-571021	PFSK-1	brain:	n/a	n/a
11	HDAC2	chr4:570342-570608	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr4:569061-569321	SK-N-SH	brain:	n/a	n/a
13	MAX	chr4:568444-568978	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
14	MAX	chr4:569042-569452	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr4:569031-569384	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr4:568478-569455	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
17	MAX	chr4:569027-569418	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr4:570795-571716	NB4	blood:	n/a	chr4:571238-571247
19	MAZ	chr4:569071-569497	IMR90	lung:	n/a	n/a
20	MXI1	chr4:569095-569346	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr4:569053-569451	IMR90	lung:	n/a	n/a
22	MYC	chr4:570823-571673	NB4	blood:	n/a	chr4:571238-571247
23	MYC	chr4:568483-568592	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568549-568557
24	POLR2A	chr4:568373-568989	SK-N-MC	brain:	n/a	n/a
25	POLR2A	chr4:569134-569306	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr4:568722-570035	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr4:570134-570593	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr4:570754-571686	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr4:569033-571774	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr4:570208-570633	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr4:570768-572264	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr4:570772-571687	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr4:570130-570658	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr4:570180-570666	SK-N-MC	brain:	n/a	n/a
35	RAD21	chr4:569045-569437	ECC-1	luminal epithelium:	n/a	n/a
36	REST	chr4:569133-569303	PANC-1	pancreas:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
37	REST	chr4:568516-569842	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:568592-568605 chr4:569728-569741 chr4:569246-569259 chr4:568580-568593 chr4:569243-569256 chr4:569731-569744
38	REST	chr4:569040-569611	H1-hESC	embryonic stem cell:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
39	REST	chr4:569033-569836	PFSK-1	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569813-569826 chr4:569681-569691 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569728-569741 chr4:569246-569259 chr4:569243-569256 chr4:569731-569744
40	REST	chr4:568196-568583	PFSK-1	brain:	n/a	chr4:568338-568351 chr4:568341-568354
41	REST	chr4:570204-570635	PFSK-1	brain:	n/a	chr4:570373-570386 chr4:570404-570417
42	REST	chr4:569133-569291	HepG2	liver:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
43	REST	chr4:569076-569364	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
44	REST	chr4:569109-569303	MCF-7	breast:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
45	REST	chr4:569093-569317	GM12878	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
46	REST	chr4:569103-569317	GM12878	blood:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
47	REST	chr4:569093-569415	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
48	REST	chr4:569074-569287	SK-N-SH	brain:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
49	REST	chr4:569133-569295	HepG2	liver:	n/a	chr4:569243-569263 chr4:569243-569263 chr4:569178-569198 chr4:569251-569261 chr4:569244-569262 chr4:569243-569252 chr4:569243-569263 chr4:569248-569257 chr4:569249-569263 chr4:569246-569259 chr4:569243-569256
50	REST	chr4:568765-569022	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:570361-570411	SK-N-SH	brain:	n/a
2	chr4:570361-570411	HUVEC	blood vessel:	n/a
3	chr4:569174-569224	HCF	heart:	n/a
4	chr4:568298-568348	HCT-116	colon:	n/a
5	chr4:570361-570411	HCPEpiC	choroid plexus:	n/a
6	chr4:570361-570411	Hela-S3	cervix:	n/a
7	chr4:570361-570411	H1-hESC	embryonic stem cell:	embryo
8	chr4:568205-568255	PrEC	prostate:	n/a
9	chr4:569174-569224	HCPEpiC	choroid plexus:	n/a
10	chr4:569174-569224	Caco-2	colon:	n/a
11	chr4:568205-568255	Jurkat	blood:	n/a
12	chr4:568514-568564	HCM	heart:	n/a
13	chr4:569174-569224	HMEC	breast:	n/a
14	chr4:569174-569224	K562	blood:	n/a
15	chr4:568298-568348	SK-N-SH_RA	brain:	n/a
16	chr4:569174-569224	HUVEC	blood vessel:	n/a
17	chr4:568298-568348	ECC-1	luminal epithelium:	n/a
18	chr4:568298-568348	AG09319	gingival:	n/a
19	chr4:570361-570411	HCF	heart:	n/a
20	chr4:568298-568348	GM12878	blood:	n/a
21	chr4:569174-569224	HEK293	kidney:	embryo
22	chr4:568205-568255	SK-N-SH	brain:	n/a
23	chr4:568205-568255	HCPEpiC	choroid plexus:	n/a
24	chr4:568205-568255	PANC-1	pancreas:	n/a
25	chr4:568514-568564	H1-hESC	embryonic stem cell:	embryo
26	chr4:568514-568564	NT2-D1	testis:	n/a
27	chr4:570361-570411	HRE	kidney:	n/a
28	chr4:570361-570411	ECC-1	luminal epithelium:	n/a
29	chr4:568514-568564	IMR90	lung:	fetal
30	chr4:568298-568348	LNCaP	prostate:	n/a
31	chr4:568298-568348	GM19239	blood:	n/a
32	chr4:568514-568564	SK-N-MC	brain:	n/a
33	chr4:569174-569224	AG09309	skin:	n/a
34	chr4:568205-568255	A549	lung:	n/a
35	chr4:569174-569224	AG04450	lung:	fetal
36	chr4:570361-570411	NB4	blood:	n/a
37	chr4:568205-568255	AoSMC	blood vessel:	n/a
38	chr4:568205-568255	SAEC	small airway:	n/a
39	chr4:568205-568255	ECC-1	luminal epithelium:	n/a
40	chr4:568205-568255	NHDF-neo	bronchial:	n/a
41	chr4:568298-568348	PFSK-1	brain:	n/a
42	chr4:569174-569224	PANC-1	pancreas:	n/a
43	chr4:568205-568255	K562	blood:	n/a
44	chr4:569174-569224	LNCaP	prostate:	n/a
45	chr4:569174-569224	HRE	kidney:	n/a
46	chr4:570361-570411	MCF10A-Er-Src	breast:	n/a
47	chr4:569174-569224	IMR90	lung:	fetal
48	chr4:569174-569224	PFSK-1	brain:	n/a
49	chr4:569174-569224	T-47D	breast:	n/a
50	chr4:568205-568255	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type
1	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:
2	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
3	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
4	chr4:564165..566404-chr4:569838..571549,2	K562	blood:
5	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGG-1	chr4:562509-568807	l_2577_chr4:560751-568807_brain
2	lnc-ZNF721-4	chr4:567669-568201	ENSG00000273238.1
3	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
4	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
5	lnc-PDE6B-1	chr4:570359-570550	NONHSAT094567
6	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572

Variant related genes	Relation type
ENSG00000273238	TF binding region
ENSG00000273238	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576274946	chr4:567826-567827	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs60284437	chr4:567863-567864	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs543379770	chr4:567892-567893	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs561506752	chr4:567979-567980	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533448720	chr4:568002-568003	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs540723704	chr4:568004-568005	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188100778	chr4:568007-568008	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs76013480	chr4:568028-568029	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs117430047	chr4:568043-568044	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs192959851	chr4:568064-568065	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs564771353	chr4:568161-568162	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs531887089	chr4:568167-568168	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550482846	chr4:568175-568176	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs368654189	chr4:568301-568302	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs535900837	chr4:568302-568303	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs547868387	chr4:568315-568316	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs566187570	chr4:568323-568324	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs62295350	chr4:568338-568339	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs560267193	chr4:568385-568386	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs557690584	chr4:568457-568458	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs375390576	chr4:568474-568475	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs538997870	chr4:568494-568495	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs576215411	chr4:568502-568503	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs536935500	chr4:568521-568522	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs555679270	chr4:568531-568532	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs573253678	chr4:568543-568544	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs540634778	chr4:568595-568596	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs77207618	chr4:568639-568640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs577338367	chr4:568671-568672	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs545115188	chr4:568693-568694	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs564504819	chr4:568748-568749	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs374903857	chr4:568877-568878	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531974511	chr4:568931-568932	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550206332	chr4:569030-569031	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562411478	chr4:569137-569138	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs529266833	chr4:569143-569144	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs547828291	chr4:569283-569284	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs566150835	chr4:569332-569333	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539919198	chr4:569333-569334	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551887413	chr4:569353-569354	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569745712	chr4:569471-569472	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537253488	chr4:569479-569480	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188202960	chr4:569498-569499	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573613857	chr4:569672-569673	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs553954384	chr4:570022-570023	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531659290	chr4:570025-570026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs192300086	chr4:570091-570092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184855414	chr4:570133-570134	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
49	rs534288417	chr4:570214-570215	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79396532	chr4:570222-570223	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD

Chromatin state (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:565800-567800	Bivalent Enhancer	Fetal Brain Male	brain
2	chr4:566200-568600	Weak transcription	Gastric	stomach
3	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
4	chr4:567400-568800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr4:567600-567800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr4:567600-567800	Bivalent Enhancer	Fetal Brain Female	brain
8	chr4:567600-568200	Weak transcription	Spleen	Spleen
9	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr4:567800-568200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
11	chr4:567800-568200	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr4:568000-568400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
13	chr4:568200-568400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr4:568200-568400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr4:568200-568400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:568200-568400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr4:568200-568400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
18	chr4:568200-568400	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr4:568200-568600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr4:568200-568600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:568200-568600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr4:568200-568600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:568200-568600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr4:568200-568600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
25	chr4:568200-568600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:568200-568600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr4:568200-568600	Bivalent Enhancer	Fetal Stomach	stomach
28	chr4:568200-568800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr4:568200-568800	Bivalent Enhancer	Fetal Brain Male	brain
30	chr4:568200-568800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:568200-569000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
36	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
37	chr4:568400-568600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:568400-568600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr4:568400-568600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:568400-568600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:568400-568600	Bivalent Enhancer	Liver	Liver
42	chr4:568400-568600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr4:568400-568800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:568400-568800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
45	chr4:568400-568800	Bivalent Enhancer	Right Ventricle	heart
46	chr4:568400-569000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:568400-569000	Bivalent Enhancer	Ovary	ovary
48	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
49	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus

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