Variant report

Variant	rs9294223
Chromosome Location	chr6:82088542-82088543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10455383	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10943804	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1159210	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12193166	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12196179	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208911	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12663202	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12663806	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12664134	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1343241	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1819754	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1857305	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1899790	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2120535	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197335	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2323251	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35055394	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35177376	0.84[AFR][1000 genomes]
rs4706140	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4706886	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4706887	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4706888	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4706889	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs57513743	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs59408091	0.83[AFR][1000 genomes]
rs6900044	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs6935182	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6942063	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7741650	0.83[ASN][1000 genomes]
rs7751405	0.81[AFR][1000 genomes]
rs9341883	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344165	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs996136	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][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	nsv604087	chr6:81792413-82326091	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1032655	chr6:81942397-82225830	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886328	chr6:82036764-82120647	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9294223	IBTK	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82088400-82090800	Enhancers	HepG2	liver

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