Variant report

Variant	rs9922795
Chromosome Location	chr16:12040393-12040394
allele	C/G
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	CEBPB	chr16:12040374-12040519	IMR90	lung:	n/a	n/a
2	ZNF384	chr16:12040315-12040429	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000234719	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10451099	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10468251	0.97[ASN][1000 genomes]
rs10852345	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10852346	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075035	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075036	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075037	0.85[ASN][1000 genomes]
rs11570137	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11570173	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864397	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12597378	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12926535	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12927256	0.83[ASN][1000 genomes]
rs12928141	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12929036	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12929544	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12929852	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12933691	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12934607	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2017662	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35965279	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs365423	0.84[ASN][1000 genomes]
rs366262	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3743591	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3851002	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3851003	0.91[ASN][1000 genomes]
rs387871	0.83[ASN][1000 genomes]
rs3916675	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57171695	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58398910	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59320000	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6498255	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6498256	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6498257	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7189024	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7190636	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7191310	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195514	0.91[ASN][1000 genomes]
rs72782778	0.91[ASN][1000 genomes]
rs8046211	0.88[ASN][1000 genomes]
rs8047277	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8051343	0.90[ASN][1000 genomes]
rs8055129	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8060611	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8062121	0.84[ASN][1000 genomes]
rs9922422	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv3379697	chr16:12011449-12049700	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv977109	chr16:12020022-12041845	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv974851	chr16:12036458-12041845	Enhancers Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12039600-12040400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:12040000-12040400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:12040200-12040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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