Variant report

Variant	rs9457234
Chromosome Location	chr6:167290270-167290271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167268417..167269941-chr6:167289089..167292061,2	K562	blood:
2	chr6:167285809..167288027-chr6:167289441..167291420,2	K562	blood:
3	chr6:167287783..167290388-chr6:167293843..167295742,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10455981	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12196280	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12201967	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12205487	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213589	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13202328	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13204302	0.86[EUR][1000 genomes]
rs1576139	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1581902	0.95[EUR][1000 genomes]
rs1831131	0.95[EUR][1000 genomes]
rs2104630	0.95[EUR][1000 genomes]
rs2149088	0.85[EUR][1000 genomes]
rs2149089	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2326709	0.80[EUR][1000 genomes]
rs28793918	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35755974	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4710132	0.93[EUR][1000 genomes]
rs61176261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6456136	0.95[EUR][1000 genomes]
rs6456139	0.91[EUR][1000 genomes]
rs6456140	0.93[EUR][1000 genomes]
rs6915656	0.91[EUR][1000 genomes]
rs7739973	0.80[EUR][1000 genomes]
rs7766409	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9347164	0.95[EUR][1000 genomes]
rs9348205	0.86[CEU][hapmap];0.85[CHD][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs9356532	0.86[EUR][1000 genomes]
rs9356533	0.95[EUR][1000 genomes]
rs9356534	0.95[EUR][1000 genomes]
rs9356535	0.86[EUR][1000 genomes]
rs9356537	0.86[EUR][1000 genomes]
rs9364883	0.95[EUR][1000 genomes]
rs9366067	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9366069	0.86[EUR][1000 genomes]
rs9366070	0.91[EUR][1000 genomes]
rs9366072	0.93[EUR][1000 genomes]
rs9366073	0.84[EUR][1000 genomes]
rs9459783	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9459787	0.95[EUR][1000 genomes]
rs9459790	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
13	nsv605333	chr6:167201033-167321693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9457234	RPS6KA2	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167281400-167291200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:167287000-167290600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:167288000-167291600	Weak transcription	Gastric	stomach
4	chr6:167289800-167291400	Strong transcription	Primary B cells from cord blood	blood
5	chr6:167290000-167290400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:167290000-167290400	Enhancers	NHEK	skin
7	chr6:167290000-167291000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:167290000-167291800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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