Variant report

Variant	esv1816544
Chromosome Location	chr4:568928-575087
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	ARID3A	chr4:575001-576049	HepG2	liver:	n/a	n/a
2	ATF3	chr4:571337-571558	K562	blood:	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	BACH1	chr4:570358-570603	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr4:573454-573723	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:571989-572090	HepG2	liver:	n/a	n/a
8	CEBPB	chr4:571515-571533	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr4:572832-572951	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr4:569385-569452	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr4:570834-571856	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr4:570237-570616	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr4:569120-569270	HCPEpiC	choroid plexus:	n/a	chr4:569137-569150
14	CTCF	chr4:572800-572950	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr4:572867-572970	HepG2	liver:	n/a	n/a
16	CTCF	chr4:573620-573770	HepG2	liver:	n/a	n/a
17	CTCF	chr4:572820-572970	HepG2	liver:	n/a	n/a
18	CTCF	chr4:572897-572907	K562	blood:	n/a	n/a
19	CTCF	chr4:573680-573830	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr4:571360-571510	AG04449	skin:	n/a	n/a
21	CTCF	chr4:573600-573750	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr4:569154-569260	NHEK	skin:	n/a	n/a
23	E2F4	chr4:571401-571466	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr4:568697-569379	H1-hESC	embryonic stem cell:	n/a	chr4:568834-568843
25	EP300	chr4:572785-572852	HepG2	liver:	n/a	n/a
26	EP300	chr4:571395-571444	HepG2	liver:	n/a	n/a
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	FOXP2	chr4:570173-570487	SK-N-MC	brain:	n/a	n/a
37	FOXP2	chr4:570791-571021	PFSK-1	brain:	n/a	n/a
38	FOXP2	chr4:571145-571655	PFSK-1	brain:	n/a	n/a
39	FOXP2	chr4:570758-571006	SK-N-MC	brain:	n/a	n/a
40	GABPA	chr4:571219-571670	H1-hESC	embryonic stem cell:	n/a	n/a
41	HDAC2	chr4:570342-570608	H1-hESC	embryonic stem cell:	n/a	n/a
42	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
43	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
44	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
45	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
46	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
47	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
48	JUND	chr4:575009-575915	HepG2	liver:	n/a	chr4:575432-575443
49	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
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:569174-569224	GM12878	blood:	n/a
2	chr4:569174-569224	GM12878	blood:	n/a
3	chr4:573619-573669	HCT-116	colon:	n/a
4	chr4:573619-573669	HCF	heart:	n/a
5	chr4:571489-571539	GM19239	blood:	n/a
6	chr4:571090-571140	SK-N-SH_RA	brain:	n/a
7	chr4:574010-574060	Hela-S3	cervix:	n/a
8	chr4:572484-572534	HAEpiC	amniotic membrane:	n/a
9	chr4:570361-570411	A549	lung:	n/a
10	chr4:571120-571170	AG10803	skin:	n/a
11	chr4:570361-570411	HCF	heart:	n/a
12	chr4:571042-571092	NT2-D1	testis:	n/a
13	chr4:571371-571421	GM12892	blood:	n/a
14	chr4:571042-571092	LNCaP	prostate:	n/a
15	chr4:569174-569224	ProgFib	skin:	n/a
16	chr4:571042-571092	SAEC	small airway:	n/a
17	chr4:571737-571787	HUVEC	blood vessel:	n/a
18	chr4:569174-569224	BE2_C	brain:	n/a
19	chr4:571489-571539	SK-N-SH	brain:	n/a
20	chr4:571489-571539	A549	lung:	n/a
21	chr4:570361-570411	IMR90	lung:	fetal
22	chr4:574010-574060	PrEC	prostate:	n/a
23	chr4:571090-571140	K562	blood:	n/a
24	chr4:571090-571140	BJ	skin:	n/a
25	chr4:571489-571539	HCM	heart:	n/a
26	chr4:571042-571092	HIPEpiC	eye:	n/a
27	chr4:571675-571725	AG04450	lung:	fetal
28	chr4:569174-569224	T-47D	breast:	n/a
29	chr4:571489-571539	HCT-116	colon:	n/a
30	chr4:570361-570411	GM06990	blood:	n/a
31	chr4:574010-574060	AG04449	skin:	fetal
32	chr4:570361-570411	BJ	skin:	n/a
33	chr4:571371-571421	H1-hESC	embryonic stem cell:	embryo
34	chr4:571090-571140	SKMC	muscle:	n/a
35	chr4:574010-574060	GM12891	blood:	n/a
36	chr4:571042-571092	HCM	heart:	n/a
37	chr4:571120-571170	A549	lung:	n/a
38	chr4:571120-571170	GM06990	blood:	n/a
39	chr4:571489-571539	BE2_C	brain:	n/a
40	chr4:571090-571140	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:569174-569224	NB4	blood:	n/a
42	chr4:571042-571092	MCF-7	breast:	n/a
43	chr4:574010-574060	GM12892	blood:	n/a
44	chr4:571737-571787	BE2_C	brain:	n/a
45	chr4:571120-571170	AG09309	skin:	n/a
46	chr4:573619-573669	PrEC	prostate:	n/a
47	chr4:573619-573669	IMR90	lung:	fetal
48	chr4:571120-571170	HNPCEpiC	eye:	n/a
49	chr4:571675-571725	AG09309	skin:	n/a
50	chr4:574010-574060	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:570799..573548-chr4:580234..582794,2	MCF-7	breast:
2	chr4:517866..521551-chr4:574619..578020,3	K562	blood:
3	chr4:564200..566117-chr4:572319..574456,3	K562	blood:
4	chr4:560447..562765-chr4:571972..574666,2	MCF-7	breast:
5	chr4:564165..566404-chr4:569838..571549,2	K562	blood:
6	chr2:37457647..37458147-chr4:570703..571253,2	Hela-S3	cervix:
7	chr4:560309..561984-chr4:571273..573145,2	K562	blood:
8	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-1	chr4:570826-571223	NONHSAT094574
2	lnc-PDE6B-1	chr4:572258-572291	l_2578_chr4:572257-601867_testes
3	lnc-PDE6B-1	chr4:572509-572622	ENSG00000256961
4	lnc-PDE6B-1	chr4:570919-571223	XLOC_003411
5	lnc-PDE6B-1	chr4:572422-572641	l_2578_chr4:572257-601867_testes
6	lnc-PDE6B-1	chr4:571079-572650	NONHSAT094567
7	lnc-PDE6B-1	chr4:571576-571933	NONHSAT094574
8	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
9	lnc-PDE6B-1	chr4:571582-574077	NONHSAT094572
10	lnc-PDE6B-1	chr4:570957-572108	ENSG00000256961
11	lnc-PDE6B-1	chr4:574545-576019	NONHSAT094577
12	lnc-PDE6B-1	chr4:572509-572563	XLOC_003411
13	lnc-PDE6B-1	chr4:570761-571223	XLOC_003411
14	lnc-PDE6B-1	chr4:570359-570550	NONHSAT094567
15	lnc-PDE6B-1	chr4:570761-571223	NONHSAT094572

Variant related genes	Relation type
ENSG00000273238	TF binding region
ENSG00000273238	CpG island
ENSG00000174227	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	rs553954384	chr4:570022-570023	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs531659290	chr4:570025-570026	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192300086	chr4:570091-570092	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs184855414	chr4:570133-570134	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs544007304	chr4:570631-570632	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4420926	chr4:570646-570647	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569077439	chr4:570740-570741	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200759058	chr4:570819-570820	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs529635813	chr4:570830-570831	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs541774554	chr4:570928-570929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs559768879	chr4:570932-570933	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs533409733	chr4:570941-570942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs552218338	chr4:571039-571040	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs181854182	chr4:571059-571060	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs186422466	chr4:571061-571062	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs150495077	chr4:571064-571065	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs115841093	chr4:571116-571117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs567149342	chr4:571138-571139	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs138314653	chr4:571268-571269	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs552888146	chr4:571279-571280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs34368532	chr4:571331-571332	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs372014954	chr4:571350-571351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs538633401	chr4:571361-571362	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs556743195	chr4:571381-571382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs575316841	chr4:571403-571404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs368704350	chr4:571426-571427	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs73792329	chr4:571442-571443	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs57823756	chr4:571466-571467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
2	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr4:568200-569000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:568200-569200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr4:568200-569200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:568200-569400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:568200-569400	Bivalent Enhancer	Spleen	Spleen
9	chr4:568200-570800	Active TSS	Brain Anterior Caudate	brain
10	chr4:568400-569000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:568400-569000	Bivalent Enhancer	Ovary	ovary
12	chr4:568400-569400	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:568400-569400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr4:568400-569600	Bivalent Enhancer	Esophagus	oesophagus
15	chr4:568400-571600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr4:568600-569000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:568600-569400	Bivalent Enhancer	Left Ventricle	heart
18	chr4:568600-569600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr4:568600-569600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:568600-569600	Bivalent Enhancer	Lung	lung
21	chr4:568600-569800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:568600-569800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:568600-569800	Enhancers	Gastric	stomach
24	chr4:568600-570800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr4:568600-571200	Enhancers	Pancreas	Pancrea
26	chr4:568600-571400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:568600-571800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:568600-571800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:568800-569000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr4:568800-569000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:568800-569000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr4:568800-569000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:568800-569000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:568800-569000	Flanking Active TSS	Right Atrium	heart
35	chr4:568800-569000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
36	chr4:568800-569000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr4:568800-569000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr4:568800-569400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:568800-569400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:568800-569800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:568800-570200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:568800-570400	Active TSS	Fetal Brain Female	brain
43	chr4:568800-571200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:568800-571600	Active TSS	Brain Cingulate Gyrus	brain
45	chr4:568800-572000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr4:569000-569200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:569000-569200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:569000-569200	Flanking Active TSS	Psoas Muscle	Psoas
49	chr4:569000-569400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr4:569000-569400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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