Variant report

Variant	rs12244454
Chromosome Location	chr10:118886338-118886339
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	E2F6	chr10:118886213-118886607	H1-hESC	embryonic stem cell:	n/a	chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886342-118886354
2	E2F6	chr10:118886233-118886538	H1-hESC	embryonic stem cell:	n/a	chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886342-118886354
3	E2F6	chr10:118886228-118886469	K562	blood:	n/a	chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886343-118886350 chr10:118886342-118886354

Variant related genes	Relation type
KIAA1598	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10128516	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10749237	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10787751	0.83[EUR][1000 genomes]
rs10787760	0.80[JPT][hapmap]
rs10886037	0.83[EUR][1000 genomes]
rs10886038	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10886040	0.84[EUR][1000 genomes]
rs11197887	0.82[EUR][1000 genomes]
rs11197892	0.83[EUR][1000 genomes]
rs11197899	0.83[EUR][1000 genomes]
rs12268087	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1865954	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1865955	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1871345	0.90[EUR][1000 genomes]
rs1898351	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1898357	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1947798	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420308	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3847479	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752028	0.82[EUR][1000 genomes]
rs6585429	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7072663	0.80[EUR][1000 genomes]
rs7078823	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7085083	0.85[EUR][1000 genomes]
rs7087662	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7093171	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs751232	0.81[EUR][1000 genomes]
rs7917897	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832002	chr10:118797070-119005840	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12244454	KIAA1598	cis	Whole Blood	GTEx

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

No data

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