Variant report

Variant	rs6722171
Chromosome Location	chr2:53713703-53713704
allele	A/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	MAFK	chr2:53713583-53714043	HepG2	liver:	n/a	chr2:53713684-53713699
2	NFYB	chr2:53713434-53714238	K562	blood:	n/a	chr2:53713760-53713775 chr2:53713719-53713734
3	MAFK	chr2:53713623-53714068	IMR90	lung:	n/a	chr2:53713684-53713699
4	MAFK	chr2:53713563-53714061	HepG2	liver:	n/a	chr2:53713684-53713699
5	NFYB	chr2:53713601-53714114	GM12878	blood:	n/a	chr2:53713760-53713775 chr2:53713719-53713734
6	NFYA	chr2:53713602-53713802	Hela-S3	cervix:	n/a	n/a
7	MAFF	chr2:53713610-53714084	HepG2	liver:	n/a	n/a
8	NFYB	chr2:53713593-53714132	Hela-S3	cervix:	n/a	chr2:53713760-53713775 chr2:53713719-53713734

Variant related genes	Relation type
ENSG00000223897	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12473250	0.80[EUR][1000 genomes]
rs17044784	0.95[EUR][1000 genomes]
rs17044786	0.95[EUR][1000 genomes]
rs56720868	0.95[EUR][1000 genomes]
rs57814783	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545349	0.95[EUR][1000 genomes]
rs6545350	0.95[EUR][1000 genomes]
rs6704836	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6705194	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707087	1.00[ASN][1000 genomes]
rs6713068	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720273	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6727792	0.98[EUR][1000 genomes]
rs6741631	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745622	1.00[ASN][1000 genomes]
rs6756089	0.95[EUR][1000 genomes]
rs6759361	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6759454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908978	1.00[ASN][1000 genomes]
rs72908990	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908995	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937308	0.95[EUR][1000 genomes]
rs7595651	0.95[EUR][1000 genomes]
rs9784047	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784059	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985549	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr2:53712200-53717000	Weak transcription	Hela-S3	cervix
2	chr2:53712400-53717600	Weak transcription	Aorta	Aorta
3	chr2:53712600-53714600	Weak transcription	Stomach Mucosa	stomach
4	chr2:53713000-53714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:53713000-53714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:53713600-53717600	Weak transcription	Fetal Brain Male	brain

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