Variant report

Variant	rs7192986
Chromosome Location	chr16:71461004-71461005
allele	A/G
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	MYBL2	chr16:71460014-71461065	HepG2	liver:	n/a	n/a
2	RPC155	chr16:71460164-71461264	K562	blood:	n/a	n/a
3	MYBL2	chr16:71459972-71461312	HepG2	liver:	n/a	n/a
4	RCOR1	chr16:71460322-71461244	K562	blood:	n/a	n/a
5	CBX3	chr16:71460090-71461203	HCT-116	colon:	n/a	n/a
6	POLR2A	chr16:71460253-71461045	PANC-1	pancreas:	n/a	n/a
7	MAX	chr16:71459518-71461026	A549	lung:	n/a	chr16:71459575-71459584
8	FOSL2	chr16:71460159-71461025	A549	lung:	n/a	n/a
9	TBP	chr16:71460093-71461041	HepG2	liver:	n/a	n/a
10	EP300	chr16:71460101-71461036	A549	lung:	n/a	n/a
11	MAX	chr16:71459449-71461199	A549	lung:	n/a	chr16:71459575-71459584
12	REST	chr16:71460653-71461060	K562	blood:	n/a	n/a
13	TEAD4	chr16:71460020-71461226	HepG2	liver:	n/a	n/a
14	ETS1	chr16:71460065-71461066	A549	lung:	n/a	n/a
15	CEBPB	chr16:71460152-71461316	HepG2	liver:	n/a	n/a
16	CTBP2	chr16:71459738-71461395	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOSL2	chr16:71460226-71461057	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr16:71460154-71461138	A549	lung:	n/a	n/a
19	IKZF1	chr16:71460544-71461273	GM12878	blood:	n/a	n/a
20	BCL3	chr16:71460138-71461137	A549	lung:	n/a	n/a
21	EP300	chr16:71460074-71461085	A549	lung:	n/a	n/a
22	ZEB1	chr16:71459898-71461138	HepG2	liver:	n/a	chr16:71460260-71460271 chr16:71460057-71460066
23	JUND	chr16:71460272-71461241	K562	blood:	n/a	chr16:71460755-71460766
24	MXI1	chr16:71459814-71461116	HepG2	liver:	n/a	chr16:71460060-71460069 chr16:71459900-71459915 chr16:71459902-71459917
25	ATF3	chr16:71460060-71461097	HCT-116	colon:	n/a	chr16:71460195-71460204
26	GABPA	chr16:71460177-71461067	A549	lung:	n/a	n/a
27	SP1	chr16:71460127-71461033	A549	lung:	n/a	n/a
28	TCF12	chr16:71459993-71461193	A549	lung:	n/a	chr16:71460685-71460692 chr16:71460346-71460356 chr16:71460262-71460269
29	RCOR1	chr16:71460031-71461212	HepG2	liver:	n/a	n/a
30	HNF4A	chr16:71460147-71461102	HepG2	liver:	n/a	n/a
31	SP1	chr16:71460056-71461037	A549	lung:	n/a	n/a
32	ZEB1	chr16:71459600-71461178	HepG2	liver:	n/a	chr16:71460260-71460271 chr16:71460057-71460066
33	TAL1	chr16:71460375-71461071	K562	blood:	n/a	n/a
34	MAX	chr16:71460048-71461278	HCT-116	colon:	n/a	n/a
35	CEBPB	chr16:71459996-71461243	HepG2	liver:	n/a	n/a
36	ATF3	chr16:71460035-71461317	HCT-116	colon:	n/a	chr16:71460195-71460204
37	ARID3A	chr16:71460200-71461226	HepG2	liver:	n/a	n/a
38	SMC3	chr16:71460304-71461097	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:71460994-71461032	ProgFib	skin:	n/a	n/a
40	ZNF263	chr16:71459843-71461304	HEK293-T-REx	kidney:	n/a	n/a
41	FOXA2	chr16:71460151-71461074	A549	lung:	n/a	n/a
42	REST	chr16:71460220-71461097	A549	lung:	n/a	n/a
43	CEBPB	chr16:71460174-71461039	A549	lung:	n/a	n/a
44	CBX3	chr16:71460946-71461276	K562	blood:	n/a	n/a
45	ATF3	chr16:71460027-71461243	A549	lung:	n/a	chr16:71460028-71460048 chr16:71460195-71460204
46	KAP1	chr16:71459974-71461251	HEK293	kidney:	n/a	n/a
47	ATF3	chr16:71459911-71461436	A549	lung:	n/a	chr16:71460028-71460048 chr16:71460022-71460031 chr16:71460195-71460204
48	TEAD4	chr16:71460205-71461120	K562	blood:	n/a	n/a
49	KAP1	chr16:71460107-71461208	U2OS	brain:	n/a	n/a
50	SIN3A	chr16:71459752-71461030	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71452691..71455669-chr16:71459394..71461176,2	MCF-7	breast:
2	chr16:71456240..71458777-chr16:71460863..71462681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261348	TF binding region
ENSG00000262120	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1105097	0.83[ASN][1000 genomes]
rs11643101	0.92[ASN][1000 genomes]
rs11644434	0.97[ASN][1000 genomes]
rs12446461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13331346	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1609868	0.82[ASN][1000 genomes]
rs1609869	0.81[ASN][1000 genomes]
rs2004672	0.81[AMR][1000 genomes]
rs2070832	0.86[AMR][1000 genomes]
rs2288487	0.82[ASN][1000 genomes]
rs28372238	0.83[AMR][1000 genomes]
rs3813743	0.81[ASN][1000 genomes]
rs3892120	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4503795	0.81[ASN][1000 genomes]
rs4620964	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7187354	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7202953	0.84[AMR][1000 genomes]
rs732318	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8044561	0.83[AMR][1000 genomes]
rs8051212	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8058776	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9302623	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9926110	0.83[AMR][1000 genomes]
rs9936249	0.85[AMR][1000 genomes]
rs9940771	0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71459200-71461200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr16:71459800-71461400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:71460000-71461400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:71460400-71461200	Enhancers	HMEC	breast
5	chr16:71460400-71461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:71460400-71461400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:71460600-71461200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:71460600-71461400	Flanking Active TSS	HepG2	liver
9	chr16:71460800-71461200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:71460800-71461400	Flanking Active TSS	A549	lung
11	chr16:71460800-71463200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:71461000-71461200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr16:71461000-71461200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:71461000-71461400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr16:71461000-71461400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr16:71461000-71461400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:71461000-71461400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:71461000-71464400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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