Variant report

Variant	rs6131801
Chromosome Location	chr20:16209696-16209697
allele	C/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	USF2	chr20:16209423-16209722	K562	blood:	n/a	n/a
2	MAX	chr20:16209365-16209708	K562	blood:	n/a	chr20:16209570-16209579 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209570-16209581 chr20:16209566-16209585 chr20:16209571-16209580
3	USF1	chr20:16209405-16209711	K562	blood:	n/a	n/a
4	MAZ	chr20:16209612-16209757	K562	blood:	n/a	n/a
5	MAX	chr20:16209426-16209738	K562	blood:	n/a	chr20:16209570-16209579 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209570-16209581 chr20:16209566-16209585 chr20:16209571-16209580
6	USF1	chr20:16209319-16209732	K562	blood:	n/a	n/a

Variant related genes	Relation type
PPIAP17	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1028948	0.84[ASN][1000 genomes]
rs1411200	0.81[ASN][1000 genomes]
rs1854571	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2026113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2749748	0.91[ASN][1000 genomes]
rs4813214	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814457	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4814461	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6043816	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6043817	0.85[ASN][1000 genomes]
rs6080181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080185	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105551	0.84[ASN][1000 genomes]
rs6110980	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6131802	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6514663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117257	0.90[ASN][1000 genomes]
rs883969	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs913829	0.81[ASN][1000 genomes]
rs913830	0.80[ASN][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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833930	chr20:16134347-16302763	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv178798	chr20:16205033-16214680	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16196200-16215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16209200-16209800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:16209200-16209800	Active TSS	K562	blood

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