Variant report

Variant	esv3436442
Chromosome Location	chr4:568052-571400
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	ATF3	chr4:571337-571558	K562	blood:	n/a	n/a
2	BACH1	chr4:570358-570603	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:569194-569394	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:570852-571471	H1-hESC	embryonic stem cell:	n/a	chr4:571444-571458
5	CHD1	chr4:569385-569452	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr4:570237-570616	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr4:570834-571856	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:569120-569270	HCPEpiC	choroid plexus:	n/a	chr4:569137-569150
9	CTCF	chr4:569154-569260	NHEK	skin:	n/a	n/a
10	CTCF	chr4:571360-571510	AG04449	skin:	n/a	n/a
11	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
12	EP300	chr4:571395-571444	HepG2	liver:	n/a	n/a
13	FOS	chr4:571272-571615	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
14	FOS	chr4:571288-571573	HUVEC	blood vessel:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
15	FOS	chr4:571277-571654	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
16	FOS	chr4:571268-571617	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
17	FOS	chr4:571268-571615	MCF10A-Er-Src	breast:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571445-571456 chr4:571446-571455
18	FOSL1	chr4:571316-571533	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
19	FOSL1	chr4:571280-571648	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
20	FOSL2	chr4:571342-571597	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571446-571457
21	FOSL2	chr4:571222-571667	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571446-571457
22	FOXP2	chr4:571145-571655	PFSK-1	brain:	n/a	n/a
23	FOXP2	chr4:570758-571006	SK-N-MC	brain:	n/a	n/a
24	FOXP2	chr4:570173-570487	SK-N-MC	brain:	n/a	n/a
25	FOXP2	chr4:570791-571021	PFSK-1	brain:	n/a	n/a
26	GABPA	chr4:571219-571670	H1-hESC	embryonic stem cell:	n/a	n/a
27	HDAC2	chr4:570342-570608	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr4:571155-571567	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455
29	JUND	chr4:571377-571544	K562	blood:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
30	JUND	chr4:571312-571526	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
31	JUND	chr4:571327-571581	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
32	JUND	chr4:571311-571570	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
33	JUND	chr4:570836-571681	H1-hESC	embryonic stem cell:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
34	JUND	chr4:571271-571608	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
35	JUND	chr4:571269-571607	HepG2	liver:	n/a	chr4:571448-571459 chr4:571445-571457 chr4:571447-571454 chr4:571446-571456 chr4:571447-571456 chr4:571446-571455 chr4:571445-571456
36	KAP1	chr4:570961-571637	U2OS	brain:	n/a	chr4:571445-571454
37	KAP1	chr4:571118-572058	HEK293	kidney:	n/a	chr4:571445-571454
38	MAFK	chr4:571374-571396	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr4:570867-570996	IMR90	lung:	n/a	n/a
40	MAX	chr4:569027-569418	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr4:568444-568978	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
42	MAX	chr4:570795-571716	NB4	blood:	n/a	chr4:571238-571247
43	MAX	chr4:568478-569455	H1-hESC	embryonic stem cell:	n/a	chr4:568550-568560 chr4:568884-568891 chr4:568549-568557
44	MAX	chr4:569031-569384	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr4:569061-569321	SK-N-SH	brain:	n/a	n/a
46	MAX	chr4:569042-569452	ECC-1	luminal epithelium:	n/a	n/a
47	MAZ	chr4:569071-569497	IMR90	lung:	n/a	n/a
48	MXI1	chr4:569095-569346	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr4:569053-569451	IMR90	lung:	n/a	n/a
50	MXI1	chr4:570895-571124	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:568298-568348	H1-hESC	embryonic stem cell:	embryo
2	chr4:568205-568255	NB4	blood:	n/a
3	chr4:568298-568348	H1-hESC	embryonic stem cell:	embryo
4	chr4:568205-568255	NB4	blood:	n/a
5	chr4:568205-568255	CMK	blood:	n/a
6	chr4:568205-568255	HCT-116	colon:	n/a
7	chr4:571042-571092	SK-N-SH_RA	brain:	n/a
8	chr4:571371-571421	AG10803	skin:	n/a
9	chr4:571042-571092	SKMC	muscle:	n/a
10	chr4:569174-569224	IMR90	lung:	fetal
11	chr4:568298-568348	Jurkat	blood:	n/a
12	chr4:570361-570411	HCM	heart:	n/a
13	chr4:571371-571421	GM06990	blood:	n/a
14	chr4:570361-570411	GM12891	blood:	n/a
15	chr4:571371-571421	CMK	blood:	n/a
16	chr4:568298-568348	GM12878	blood:	n/a
17	chr4:571371-571421	PFSK-1	brain:	n/a
18	chr4:571042-571092	HCT-116	colon:	n/a
19	chr4:569174-569224	ECC-1	luminal epithelium:	n/a
20	chr4:571120-571170	LNCaP	prostate:	n/a
21	chr4:570361-570411	PrEC	prostate:	n/a
22	chr4:571042-571092	U87	brain:	n/a
23	chr4:568298-568348	AG04449	skin:	fetal
24	chr4:571042-571092	AG04449	skin:	fetal
25	chr4:571090-571140	GM19239	blood:	n/a
26	chr4:571120-571170	HCPEpiC	choroid plexus:	n/a
27	chr4:571090-571140	HRE	kidney:	n/a
28	chr4:571090-571140	AoSMC	blood vessel:	n/a
29	chr4:568514-568564	ovcar-3	ovarian:	n/a
30	chr4:571090-571140	HL-60	blood:	n/a
31	chr4:571120-571170	HCT-116	colon:	n/a
32	chr4:571120-571170	HNPCEpiC	eye:	n/a
33	chr4:568514-568564	GM12878	blood:	n/a
34	chr4:569174-569224	HCM	heart:	n/a
35	chr4:568205-568255	AG09309	skin:	n/a
36	chr4:568514-568564	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:570361-570411	HIPEpiC	eye:	n/a
38	chr4:568514-568564	CMK	blood:	n/a
39	chr4:571042-571092	AoSMC	blood vessel:	n/a
40	chr4:569174-569224	NHDF-neo	bronchial:	n/a
41	chr4:568205-568255	AG09319	gingival:	n/a
42	chr4:568514-568564	HepG2	liver:	n/a
43	chr4:568298-568348	T-47D	breast:	n/a
44	chr4:568298-568348	NHDF-neo	bronchial:	n/a
45	chr4:568514-568564	MCF10A-Er-Src	breast:	n/a
46	chr4:571090-571140	Hepatocyte	liver:	n/a
47	chr4:571042-571092	HCPEpiC	choroid plexus:	n/a
48	chr4:568514-568564	HRCEpiC	kidney:	n/a
49	chr4:570361-570411	HRCEpiC	kidney:	n/a
50	chr4:568205-568255	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
2	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:
3	chr4:560309..561984-chr4:571273..573145,2	K562	blood:
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-PDE6B-1	chr4:570826-571223	NONHSAT094574
2	lnc-PDE6B-1	chr4:570359-570550	NONHSAT094567
3	lnc-ZNF721-4	chr4:567669-568201	ENSG00000273238.1
4	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
5	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
6	lnc-PDE6B-1	chr4:570957-572108	ENSG00000256961
7	lnc-PDE6B-1	chr4:570919-571223	XLOC_003411
8	lnc-PIGG-1	chr4:562509-568807	l_2577_chr4:560751-568807_brain
9	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572
10	lnc-PDE6B-1	chr4:571079-572650	NONHSAT094567

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

Extended variants
information (count: 69 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192959851	chr4:568064-568065	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs564771353	chr4:568161-568162	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs531887089	chr4:568167-568168	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs550482846	chr4:568175-568176	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	rs553954384	chr4:570022-570023	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531659290	chr4:570025-570026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs192300086	chr4:570091-570092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184855414	chr4:570133-570134	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	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
41	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
42	rs546669182	chr4:570259-570260	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140080269	chr4:570288-570289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115298135	chr4:570292-570293	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544765948	chr4:570333-570334	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376946267	chr4:570345-570346	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs4516657	chr4:570398-570399	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs563445633	chr4:570524-570525	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs576515484	chr4:570563-570564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544007304	chr4:570631-570632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers 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:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:566200-568600	Weak transcription	Gastric	stomach
2	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
3	chr4:567400-568800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:567600-568200	Weak transcription	Spleen	Spleen
6	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:567800-568200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
8	chr4:567800-568200	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr4:568000-568400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr4:568200-568400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr4:568200-568400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr4:568200-568400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:568200-568400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr4:568200-568400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr4:568200-568400	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr4:568200-568600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr4:568200-568600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:568200-568600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr4:568200-568600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:568200-568600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr4:568200-568600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
22	chr4:568200-568600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:568200-568600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:568200-568600	Bivalent Enhancer	Fetal Stomach	stomach
25	chr4:568200-568800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr4:568200-568800	Bivalent Enhancer	Fetal Brain Male	brain
27	chr4:568200-568800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:568200-569000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
33	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
34	chr4:568400-568600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:568400-568600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr4:568400-568600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:568400-568600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:568400-568600	Bivalent Enhancer	Liver	Liver
39	chr4:568400-568600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr4:568400-568800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:568400-568800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr4:568400-568800	Bivalent Enhancer	Right Ventricle	heart
43	chr4:568400-569000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:568400-569000	Bivalent Enhancer	Ovary	ovary
45	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
48	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr4:568600-568800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr4:568600-568800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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