Variant report

Variant	rs72722305
Chromosome Location	chr14:64728538-64728539
allele	C/T
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	CEBPB	chr14:64728386-64728731	MCF-7	breast:	n/a	chr14:64728525-64728536
2	CEBPB	chr14:64728435-64728660	A549	lung:	n/a	chr14:64728525-64728536
3	CEBPB	chr14:64728464-64728663	HepG2	liver:	n/a	chr14:64728525-64728536
4	CEBPB	chr14:64728467-64728631	K562	blood:	n/a	chr14:64728525-64728536
5	CEBPB	chr14:64728458-64728668	IMR90	lung:	n/a	chr14:64728525-64728536

Variant related genes	Relation type
ESR2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12432029	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434245	0.83[EUR][1000 genomes]
rs12435284	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952586	0.81[EUR][1000 genomes]
rs2295641	0.82[EUR][1000 genomes]
rs28402888	0.81[EUR][1000 genomes]
rs28435160	0.81[EUR][1000 genomes]
rs28440970	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28533821	0.81[EUR][1000 genomes]
rs28659912	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947517	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56386725	0.81[EUR][1000 genomes]
rs6573551	0.82[EUR][1000 genomes]
rs66969518	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67160339	0.81[EUR][1000 genomes]
rs67991812	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145919	0.83[EUR][1000 genomes]
rs7159462	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720372	0.82[EUR][1000 genomes]
rs72720375	0.82[EUR][1000 genomes]
rs72720376	0.82[EUR][1000 genomes]
rs72720380	0.82[EUR][1000 genomes]
rs72720382	0.83[EUR][1000 genomes]
rs72722317	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722320	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72722324	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722326	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004284	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004907	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005720	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013331	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8019025	0.81[EUR][1000 genomes]
rs8020953	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021944	0.82[EUR][1000 genomes]
rs8022694	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1794316	chr14:64717748-64730868	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64716400-64733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:64721600-64730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:64726000-64734000	Weak transcription	Adipose Nuclei	Adipose
4	chr14:64727400-64734000	Weak transcription	Thymus	Thymus
5	chr14:64727600-64741200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:64727600-64757600	Weak transcription	Ovary	ovary

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