Variant report

Variant	rs6988508
Chromosome Location	chr8:54151476-54151477
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	GABPA	chr8:54151159-54151524	Hela-S3	cervix:	n/a	n/a
2	EP300	chr8:54151078-54151625	ECC-1	luminal epithelium:	n/a	n/a
3	NR3C1	chr8:54151234-54151528	ECC-1	luminal epithelium:	n/a	chr8:54151407-54151416 chr8:54151399-54151413
4	MAX	chr8:54151213-54151518	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr8:54151231-54151485	Hela-S3	cervix:	n/a	n/a
6	NR3C1	chr8:54151229-54151548	ECC-1	luminal epithelium:	n/a	chr8:54151407-54151416 chr8:54151399-54151413
7	GABPA	chr8:54151184-54151495	H1-hESC	embryonic stem cell:	n/a	n/a
8	CBX3	chr8:54151215-54151516	HCT-116	colon:	n/a	n/a
9	MAX	chr8:54150656-54151563	HepG2	liver:	n/a	n/a
10	GABPA	chr8:54151150-54151572	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
OPRK1	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10504151	0.82[CEU][hapmap]
rs12056411	0.82[CEU][hapmap]
rs12056414	0.82[CEU][hapmap]
rs16918832	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918875	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16918900	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918928	0.82[CEU][hapmap]
rs16918931	0.82[CEU][hapmap]
rs16918934	0.82[CEU][hapmap]
rs16918938	0.82[CEU][hapmap]
rs16918955	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2303432	0.82[CEU][hapmap]
rs2303433	0.82[CEU][hapmap]
rs34418807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537478	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57796760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58121794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58534275	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58861077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60721705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61410012	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473814	0.82[AMR][1000 genomes]
rs6982096	0.82[CEU][hapmap]
rs6986052	0.82[CEU][hapmap]
rs6996658	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016275	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73585649	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73585658	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73586457	0.82[AMR][1000 genomes]
rs73586486	0.82[AMR][1000 genomes]
rs73586489	0.82[AMR][1000 genomes]
rs73588541	0.82[AMR][1000 genomes]
rs73589347	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601364	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601368	1.00[EUR][1000 genomes]
rs73602836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679682	1.00[EUR][1000 genomes]
rs7462780	0.82[AMR][1000 genomes]
rs7813478	0.82[CEU][hapmap]
rs7816233	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822011	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822111	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829470	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832039	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7839445	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840304	0.82[CEU][hapmap]
rs7843965	0.82[CEU][hapmap]
rs7844117	0.82[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54149000-54151600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:54151400-54154200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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