Variant report

Variant	rs10512288
Chromosome Location	chr9:104494816-104494817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104493214..104495968-chr9:104498085..104500159,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10819985	0.84[AFR][1000 genomes]
rs10989610	0.81[AFR][1000 genomes]
rs16920674	1.00[EUR][1000 genomes]
rs2069324	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2069325	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2184960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];0.91[YRI][hapmap]
rs4743485	0.84[AFR][1000 genomes]
rs55734521	1.00[ASN][1000 genomes]
rs56236943	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59275233	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62576354	1.00[EUR][1000 genomes]
rs62576359	1.00[EUR][1000 genomes]
rs62577460	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62577463	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62577464	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62577465	0.93[EUR][1000 genomes]
rs62582206	0.93[EUR][1000 genomes]
rs62582209	1.00[ASN][1000 genomes]
rs6479062	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479064	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7020326	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7030816	1.00[EUR][1000 genomes]
rs7031850	1.00[EUR][1000 genomes]
rs7032033	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7034155	1.00[EUR][1000 genomes]
rs7041051	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7043125	1.00[EUR][1000 genomes]
rs7043519	1.00[EUR][1000 genomes]
rs7849732	1.00[EUR][1000 genomes]
rs7849944	1.00[EUR][1000 genomes]
rs7858895	1.00[ASN][1000 genomes]
rs7864726	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1046590	chr9:104450624-104848588	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046614	chr9:104492314-104686326	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1054992	chr9:104494816-104771134	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104490600-104495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:104490600-104496000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:104494200-104499600	Weak transcription	Liver	Liver

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