Variant report

Variant	rs10759468
Chromosome Location	chr9:99859062-99859063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10046794	0.81[EUR][1000 genomes]
rs10046806	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10046816	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10114777	0.85[EUR][1000 genomes]
rs10122964	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10759466	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759467	0.87[EUR][1000 genomes]
rs10759470	0.85[EUR][1000 genomes]
rs10759472	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10759476	0.82[EUR][1000 genomes]
rs10759479	0.87[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs10759482	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10759483	0.81[EUR][1000 genomes]
rs10817097	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10817100	0.81[EUR][1000 genomes]
rs10817113	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10817120	0.82[EUR][1000 genomes]
rs10817131	0.88[EUR][1000 genomes]
rs10980585	0.85[EUR][1000 genomes]
rs10980590	0.85[EUR][1000 genomes]
rs10980603	0.81[EUR][1000 genomes]
rs10980606	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10980615	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10980643	0.81[EUR][1000 genomes]
rs28811401	0.84[EUR][1000 genomes]
rs4484816	0.85[EUR][1000 genomes]
rs4596750	0.85[EUR][1000 genomes]
rs6477931	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7038671	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7865359	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7867674	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7870897	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv428540	chr9:99722815-99863455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831662	chr9:99752521-99939231	Bivalent Enhancer Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10759468	UHRF1	trans	cerebellum	SCAN
rs10759468	SLC35D2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99850200-99860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:99850600-99877000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:99851600-99862600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:99856600-99860200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:99856600-99871400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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