Variant report

Variant	rs6069039
Chromosome Location	chr20:53505899-53505900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53505374..53507106-chr20:53509425..53512263,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11696214	0.89[EUR][1000 genomes]
rs13038124	0.86[EUR][1000 genomes]
rs1398111	0.89[EUR][1000 genomes]
rs1398113	0.84[EUR][1000 genomes]
rs1398116	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1398117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398118	0.89[EUR][1000 genomes]
rs1512061	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17000338	0.89[EUR][1000 genomes]
rs2870371	0.87[EUR][1000 genomes]
rs2870372	0.89[EUR][1000 genomes]
rs34354535	0.89[EUR][1000 genomes]
rs35146414	0.89[EUR][1000 genomes]
rs36033340	0.89[EUR][1000 genomes]
rs366808	0.82[TSI][hapmap]
rs4811542	0.85[EUR][1000 genomes]
rs4811544	0.83[EUR][1000 genomes]
rs4811546	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4811547	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60068035	0.80[EUR][1000 genomes]
rs6014211	0.83[EUR][1000 genomes]
rs6023649	0.82[TSI][hapmap]
rs6023655	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs6023669	0.84[EUR][1000 genomes]
rs6023673	0.85[EUR][1000 genomes]
rs6064124	0.87[EUR][1000 genomes]
rs6064129	0.86[EUR][1000 genomes]
rs6064132	0.89[EUR][1000 genomes]
rs6064133	0.85[EUR][1000 genomes]
rs6069016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6069026	0.87[EUR][1000 genomes]
rs6069030	0.87[EUR][1000 genomes]
rs6069031	0.87[EUR][1000 genomes]
rs6069033	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6069034	0.85[EUR][1000 genomes]
rs6069037	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6069040	0.82[EUR][1000 genomes]
rs6069041	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6123426	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6127310	0.83[EUR][1000 genomes]
rs6513001	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs66704169	0.87[EUR][1000 genomes]
rs7263291	0.86[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs733093	0.86[CEU][hapmap];0.88[TSI][hapmap]
rs912510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs912511	0.84[EUR][1000 genomes]
rs912512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs958026	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs992981	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
2	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv521883	chr20:53497139-53563837	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv524442	chr20:53497139-53563837	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6069039	PFDN4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53495400-53508800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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