Variant report

Variant	rs12168652
Chromosome Location	chr22:28606733-28606734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10154425	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212007	0.88[EUR][1000 genomes]
rs10212036	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212074	1.00[ASN][1000 genomes]
rs10212083	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12166023	1.00[ASN][1000 genomes]
rs12166158	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166253	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12166256	0.81[EUR][1000 genomes]
rs12166912	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12167735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168054	1.00[ASN][1000 genomes]
rs12168180	0.82[EUR][1000 genomes]
rs12168708	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12168851	0.93[AMR][1000 genomes]
rs12170022	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134194	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs134197	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs138642	0.83[AMR][1000 genomes]
rs16985976	1.00[ASN][1000 genomes]
rs16986037	0.81[EUR][1000 genomes]
rs16986077	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987005	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407024	1.00[ASN][1000 genomes]
rs17487463	0.90[AMR][1000 genomes]
rs2345717	0.81[AMR][1000 genomes]
rs28579300	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55846737	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55856549	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233401	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391942	0.88[AMR][1000 genomes]
rs57686964	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58823697	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58936636	0.86[AFR][1000 genomes]
rs73880391	1.00[ASN][1000 genomes]
rs73880393	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73880395	1.00[ASN][1000 genomes]
rs73882704	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882705	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882709	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882711	0.86[AFR][1000 genomes]
rs73882720	0.81[AFR][1000 genomes]
rs73882721	0.81[AFR][1000 genomes]
rs761322	1.00[ASN][1000 genomes]
rs761323	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306452	1.00[ASN][1000 genomes]
rs9620768	0.82[EUR][1000 genomes]
rs9620769	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620770	1.00[ASN][1000 genomes]
rs9620771	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9620779	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625394	1.00[ASN][1000 genomes]
rs9625395	0.81[EUR][1000 genomes]
rs9625405	1.00[ASN][1000 genomes]
rs9625406	1.00[ASN][1000 genomes]
rs9625407	1.00[ASN][1000 genomes]
rs9625408	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625409	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625410	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625413	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625416	0.81[EUR][1000 genomes]
rs9625417	0.81[EUR][1000 genomes]
rs9625418	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625421	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625425	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625427	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625430	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625433	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625440	0.90[AMR][1000 genomes]
rs9625441	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9625447	0.90[AMR][1000 genomes]
rs988893	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv962867	chr22:28595811-28611386	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28600200-28616400	Weak transcription	Ovary	ovary
2	chr22:28604600-28617800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:28606400-28610800	Weak transcription	Dnd41	blood

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