Variant report

Variant	rs60405894
Chromosome Location	chr15:72976075-72976076
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	POLR2A	chr15:72975141-72977927	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72972683..72975253-chr15:72975906..72977855,2	MCF-7	breast:

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000261281	TF binding region
ENSG00000261281	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12440951	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12441084	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12592955	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594667	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12594844	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16957293	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2012253	0.92[ASN][1000 genomes]
rs2278543	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28502551	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3179616	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34337823	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35136341	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35958407	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3759870	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4776611	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777528	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777529	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4777530	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4777531	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4777537	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4777538	0.90[EUR][1000 genomes]
rs4777540	0.81[AMR][1000 genomes]
rs57621041	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58600393	0.93[EUR][1000 genomes]
rs59049627	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59152128	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60601886	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60674997	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61311866	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62017593	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62017598	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72662112	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72737337	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs730180	0.92[ASN][1000 genomes]
rs7497429	0.97[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2763105	chr15:72975344-72978616	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60405894	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72963800-72977600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:72973200-72977400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:72973600-72977600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:72975600-72977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:72975600-72977400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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