Variant report

Variant	rs12550585
Chromosome Location	chr8:91305844-91305845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91303233..91306793-chr8:91310955..91313992,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10101254	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11778822	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12679551	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474506	0.81[EUR][1000 genomes]
rs16904279	0.81[EUR][1000 genomes]
rs16904359	0.80[EUR][1000 genomes]
rs1989936	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107072	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2214416	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28546857	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2879345	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735390	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735420	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726619	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs726620	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813747	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814038	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7824559	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824692	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7825774	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845926	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297818	0.98[EUR][1000 genomes];0.98[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	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12550585	RUNX1T1	cis	cerebellum	SCAN
rs12550585	CDH17	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91303400-91310400	Weak transcription	K562	blood

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