Variant report

Variant	rs9933867
Chromosome Location	chr16:72208660-72208661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr16:72208604-72208815	K562	blood:	n/a	n/a

Variant related genes	Relation type
PMFBP1	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1049933	0.85[AMR][1000 genomes]
rs12325171	0.85[AMR][1000 genomes]
rs12325593	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13332560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334681	0.85[AMR][1000 genomes]
rs13338949	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16970697	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16973640	0.85[AMR][1000 genomes]
rs16973723	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28507713	0.85[AMR][1000 genomes]
rs28557204	0.85[AMR][1000 genomes]
rs28639994	0.85[AMR][1000 genomes]
rs35184823	0.85[AMR][1000 genomes]
rs56978453	0.85[AMR][1000 genomes]
rs61074815	0.85[AMR][1000 genomes]
rs7186117	0.85[AFR][1000 genomes]
rs7186448	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7188462	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7189654	0.84[AFR][1000 genomes]
rs7191270	0.85[AMR][1000 genomes]
rs7191499	0.85[AMR][1000 genomes]
rs7194569	0.85[AMR][1000 genomes]
rs7203195	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73578560	0.85[AMR][1000 genomes]
rs73580679	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73582412	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8051438	0.84[AFR][1000 genomes]
rs8052025	0.85[AMR][1000 genomes]
rs8055216	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8056752	0.85[AMR][1000 genomes]
rs8057379	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9921752	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9923961	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9925476	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9925493	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9932236	0.85[AMR][1000 genomes]
rs9934521	0.85[AMR][1000 genomes]
rs9940996	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72206600-72208800	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72207000-72208800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:72207000-72209800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:72208600-72209600	Enhancers	Primary monocytes fromperipheralblood	blood

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