Variant report

Variant	rs2246699
Chromosome Location	chr21:16092214-16092215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16091956..16094927-chr21:16095615..16097433,3	K562	blood:
2	chr21:16091185..16093425-chr21:16097360..16100309,2	MCF-7	breast:
3	chr21:16072697..16075664-chr21:16091482..16093697,2	K562	blood:
4	chr21:16090974..16093550-chr21:16099638..16101835,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1011868	0.83[AFR][1000 genomes]
rs1011869	0.83[AFR][1000 genomes]
rs11700788	0.86[AFR][1000 genomes]
rs11701060	0.86[AFR][1000 genomes]
rs11701668	0.86[AFR][1000 genomes]
rs11701752	0.85[CHB][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11701758	0.86[AFR][1000 genomes]
rs11702307	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13046554	0.82[AFR][1000 genomes]
rs13049142	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs13049928	0.86[AFR][1000 genomes]
rs13050255	0.85[CHB][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2007558	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2446696	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2822873	0.85[CHB][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2822874	0.85[CHB][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2822875	0.85[CHB][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2822876	0.80[AFR][1000 genomes]
rs2822877	0.85[CHB][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs2822878	0.85[CHB][hapmap]
rs2822883	0.85[CHB][hapmap]
rs2822884	0.85[CHB][hapmap]
rs2822886	0.85[CHB][hapmap]
rs458052	0.83[ASW][hapmap];0.82[GIH][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs460240	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]
rs467364	0.81[AFR][1000 genomes]
rs62218099	0.86[AFR][1000 genomes]
rs62218100	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62218101	0.86[AFR][1000 genomes]
rs7280249	0.86[AFR][1000 genomes]
rs7280684	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7281408	0.86[AFR][1000 genomes]
rs7281420	0.86[AFR][1000 genomes]
rs8132570	0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2246699	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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