Variant report

Variant	rs8139657
Chromosome Location	chr22:32559835-32559836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1029355	0.84[ASN][1000 genomes]
rs12158564	0.85[ASN][1000 genomes]
rs130407	0.86[CHB][hapmap]
rs135110	0.86[CHB][hapmap]
rs135111	0.86[CHB][hapmap]
rs16989807	0.89[JPT][hapmap]
rs16989957	1.00[ASN][1000 genomes]
rs2019949	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2413072	0.81[ASN][1000 genomes]
rs2413073	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3888536	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4602316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs5998233	0.86[CHB][hapmap]
rs5998237	0.86[CHB][hapmap]
rs5998253	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs5998271	0.85[ASN][1000 genomes]
rs71313111	0.84[EUR][1000 genomes]
rs71313112	0.83[EUR][1000 genomes]
rs738993	0.89[JPT][hapmap]
rs8135821	1.00[ASN][1000 genomes]
rs8137665	0.86[CHB][hapmap]
rs8141332	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs93108	0.86[CHB][hapmap]
rs9606906	0.86[CHB][hapmap]
rs9606914	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9606916	1.00[ASN][1000 genomes]
rs9606917	1.00[ASN][1000 genomes]
rs9609459	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][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	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8139657	C22orf28	cis	lymphoblastoid	seeQTL
rs8139657	LRPPRC	trans	cerebellum	SCAN
rs8139657	C22orf30	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32555200-32560000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:32555200-32560400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32555600-32561600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:32559400-32562400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:32559800-32560000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr22:32559800-32560600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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