Variant report

Variant	rs6809548
Chromosome Location	chr3:51849876-51849877
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	MAFK	chr3:51849768-51849926	HepG2	liver:	n/a	chr3:51849818-51849833 chr3:51849819-51849839 chr3:51849822-51849836 chr3:51849821-51849837 chr3:51849823-51849832

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51846315..51850228-chr3:51850369..51853363,4	K562	blood:

Variant related genes	Relation type
ENSG00000224792	TF binding region
IQCF3	TF binding region
ENSG00000224792	Chromatin interaction
ENSG00000229972	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12631654	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12639503	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1505404	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1857800	0.81[EUR][1000 genomes]
rs1983106	0.81[EUR][1000 genomes]
rs2007607	0.81[EUR][1000 genomes]
rs2089224	0.81[EUR][1000 genomes]
rs2102297	0.84[AFR][1000 genomes]
rs28451928	0.90[EUR][1000 genomes]
rs28481670	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804132	0.90[EUR][1000 genomes]
rs55894445	0.81[EUR][1000 genomes]
rs56204016	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222927	0.81[EUR][1000 genomes]
rs56285190	0.81[EUR][1000 genomes]
rs56662100	0.81[EUR][1000 genomes]
rs56998832	0.81[EUR][1000 genomes]
rs57184058	0.81[EUR][1000 genomes]
rs57269235	0.81[EUR][1000 genomes]
rs57407585	0.81[EUR][1000 genomes]
rs59215394	0.81[EUR][1000 genomes]
rs60818362	0.81[EUR][1000 genomes]
rs61015325	0.81[EUR][1000 genomes]
rs61257131	0.81[EUR][1000 genomes]
rs6446041	0.83[AFR][1000 genomes]
rs6762083	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763197	0.81[EUR][1000 genomes]
rs6768073	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782139	0.81[EUR][1000 genomes]
rs6786848	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6795223	0.81[EUR][1000 genomes]
rs6795953	0.90[EUR][1000 genomes]
rs6798175	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798914	0.90[EUR][1000 genomes]
rs6805324	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6805941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73834762	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73834763	0.90[EUR][1000 genomes]
rs73834764	0.90[EUR][1000 genomes]
rs73834765	0.81[EUR][1000 genomes]
rs73834766	0.81[EUR][1000 genomes]
rs73838706	0.81[EUR][1000 genomes]
rs73838710	0.81[EUR][1000 genomes]
rs73838711	0.81[EUR][1000 genomes]
rs7627992	0.81[EUR][1000 genomes]
rs7635409	0.83[ASN][1000 genomes]
rs7639080	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7644969	0.81[EUR][1000 genomes]
rs9826967	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828077	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9836804	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9840833	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9857964	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986539	0.81[EUR][1000 genomes]
rs9866552	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869265	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv3416846	chr3:51781117-51888179	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 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	chr3:51847800-51854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:51849600-51850000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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