Variant report

Variant	rs12168851
Chromosome Location	chr22:28718217-28718218
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	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10212083	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12165708	1.00[ASN][1000 genomes]
rs12166253	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12167735	0.93[AMR][1000 genomes]
rs12168652	0.93[AMR][1000 genomes]
rs12168708	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134194	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs134197	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16986308	0.89[AFR][1000 genomes]
rs17487463	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2345717	0.87[AMR][1000 genomes]
rs28579300	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55846737	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56391942	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73437900	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439811	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs738200	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73882704	0.81[AMR][1000 genomes]
rs73882705	0.81[AMR][1000 genomes]
rs73882709	0.87[AMR][1000 genomes]
rs8137808	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620778	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9620779	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625425	0.81[AMR][1000 genomes]
rs9625427	0.81[AMR][1000 genomes]
rs9625433	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625437	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625440	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9625441	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625447	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9625467	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9625475	0.81[EUR][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	nsv526760	chr22:28706220-28719656	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28711000-28718400	Weak transcription	Stomach Mucosa	stomach
2	chr22:28711000-28719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:28712000-28718800	Weak transcription	Gastric	stomach
4	chr22:28712200-28725600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:28716400-28722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28717200-28726400	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28717600-28718800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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