Variant report

Variant	rs73602841
Chromosome Location	chr8:54166809-54166810
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	TEAD4	chr8:54166638-54166939	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr8:54166582-54167062	ECC-1	luminal epithelium:	n/a	n/a
3	RAD21	chr8:54166579-54166823	H1-hESC	embryonic stem cell:	n/a	chr8:54166622-54166631
4	CTCF	chr8:54166720-54166870	GM12870	blood:	n/a	n/a
5	CTCF	chr8:54166680-54166830	Hela-S3	cervix:	n/a	n/a
6	ESR1	chr8:54166656-54167007	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr8:54166642-54166818	MCF-7	breast:	n/a	n/a
8	RAD21	chr8:54166503-54166916	H1-hESC	embryonic stem cell:	n/a	chr8:54166622-54166631
9	CTCF	chr8:54166660-54166810	HRPEpiC	eye:	n/a	n/a
10	NFIC	chr8:54166541-54167075	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
OPRK1	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs16918832	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918875	1.00[EUR][1000 genomes]
rs16918900	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34418807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537478	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57796760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58121794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58534275	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58861077	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521056	1.00[AFR][1000 genomes];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]
rs6988508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996658	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016275	1.00[EUR][1000 genomes]
rs73585649	0.83[AFR][1000 genomes];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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589385	0.96[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679682	1.00[EUR][1000 genomes]
rs7462780	0.82[AMR][1000 genomes]
rs7816233	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822011	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822111	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829470	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832039	0.93[EUR][1000 genomes]
rs7839445	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	chr8:54165800-54169400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54166400-54167000	Bivalent Enhancer	Fetal Heart	heart

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