Variant report

Variant	rs460240
Chromosome Location	chr21:16091843-16091844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16091185..16093425-chr21:16097360..16100309,2	MCF-7	breast:
2	chr21:16072697..16075664-chr21:16091482..16093697,2	K562	blood:
3	chr21:16090974..16093550-chr21:16099638..16101835,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1011868	0.93[ASN][1000 genomes]
rs1011869	0.93[ASN][1000 genomes]
rs11700788	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11701060	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11701668	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11701709	0.85[ASN][1000 genomes]
rs11701752	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs11701758	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11702307	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1292751	0.84[ASN][1000 genomes]
rs13046554	0.93[ASN][1000 genomes]
rs13049142	0.91[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs13049928	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13050255	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2007558	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2246699	0.91[ASW][hapmap];0.92[CHB][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs2403804	0.84[ASN][1000 genomes]
rs2446696	0.91[ASW][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2822839	0.80[YRI][hapmap]
rs2822846	0.80[YRI][hapmap]
rs2822872	0.80[YRI][hapmap]
rs2822873	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2822874	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2822875	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2822876	0.93[ASN][1000 genomes]
rs2822877	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2822878	0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs2822883	0.92[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2822884	0.92[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs2822885	0.83[ASN][1000 genomes]
rs2822886	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs34595740	0.87[ASN][1000 genomes]
rs458052	0.84[CEU][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.95[TSI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs460246	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs467364	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62218099	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62218100	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62218101	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7280249	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7280684	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7281408	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7281420	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8130742	0.84[ASN][1000 genomes]
rs8132570	0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap];0.91[ASN][1000 genomes]
rs9983243	0.87[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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs460240	CYB5D2	trans	cerebellum	SCAN
rs460240	SAMSN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16091000-16092600	Enhancers	K562	blood

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