Variant report

Variant	rs72784167
Chromosome Location	chr5:119680547-119680548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119680201..119681861-chr5:119689913..119692510,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10058597	0.96[ASN][1000 genomes]
rs10059974	0.95[ASN][1000 genomes]
rs12654459	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656625	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656626	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657593	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12658673	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12659480	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1368182	0.91[ASN][1000 genomes]
rs1432455	0.85[AFR][1000 genomes]
rs1432458	0.95[ASN][1000 genomes]
rs17146485	1.00[ASN][1000 genomes]
rs17146501	0.98[ASN][1000 genomes]
rs17421780	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17422211	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17422462	0.81[EUR][1000 genomes]
rs17481046	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17488124	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1897457	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2053007	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116607	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2163674	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499860	0.95[ASN][1000 genomes]
rs4895243	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895244	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6863052	0.91[ASN][1000 genomes]
rs6863943	0.95[ASN][1000 genomes]
rs6884101	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6896794	0.93[ASN][1000 genomes]
rs6899092	0.96[ASN][1000 genomes]
rs72784168	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72784169	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72784172	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72784173	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72784175	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72784177	0.95[ASN][1000 genomes]
rs72784195	0.85[AFR][1000 genomes]
rs72784197	0.85[AFR][1000 genomes]
rs72786214	0.93[AFR][1000 genomes]
rs7730105	0.86[AFR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882786	chr5:119615110-119714817	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72784167	PRR16	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119680400-119686400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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