Variant report

Variant	rs12657593
Chromosome Location	chr5:119675496-119675497
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	chr5:119675436-119675564	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-718P	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10058597	0.85[ASN][1000 genomes]
rs10059974	0.81[ASN][1000 genomes]
rs12654459	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656625	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12656626	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12658673	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12659480	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1368182	0.89[ASN][1000 genomes]
rs1432458	0.81[ASN][1000 genomes]
rs17146485	0.85[ASN][1000 genomes]
rs17146501	0.83[ASN][1000 genomes]
rs17421780	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17422211	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17481046	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1897457	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2053007	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2116607	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2163674	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4499860	0.81[ASN][1000 genomes]
rs4895243	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895244	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6863943	0.81[ASN][1000 genomes]
rs6884101	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6899092	0.85[ASN][1000 genomes]
rs72784167	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72784168	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72784169	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72784172	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72784173	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72784175	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72784177	0.81[ASN][1000 genomes]
rs72784195	0.86[AFR][1000 genomes]
rs72784197	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12657593	PRR16	cis	Muscle Skeletal	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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