Variant report

Variant	rs5998253
Chromosome Location	chr22:32545152-32545153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000183531	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1029355	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12158564	0.82[ASN][1000 genomes]
rs12484973	0.89[JPT][hapmap]
rs130407	0.86[CHB][hapmap]
rs135110	0.86[CHB][hapmap]
rs135111	0.86[CHB][hapmap]
rs16989807	1.00[JPT][hapmap]
rs16989809	0.88[JPT][hapmap]
rs16989893	0.88[JPT][hapmap]
rs2019949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2019952	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413072	0.91[ASN][1000 genomes]
rs2413073	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3888536	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4488763	0.88[JPT][hapmap]
rs4602316	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5998233	0.86[CHB][hapmap]
rs5998237	0.86[CHB][hapmap]
rs5998254	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5998271	0.82[ASN][1000 genomes]
rs62241567	1.00[ASN][1000 genomes]
rs7291239	0.82[ASN][1000 genomes]
rs738993	1.00[JPT][hapmap]
rs8137665	0.86[CHB][hapmap]
rs8139657	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9286733	0.88[ASN][1000 genomes]
rs93108	0.86[CHB][hapmap]
rs9606906	0.86[CHB][hapmap]
rs9606912	0.88[EUR][1000 genomes]
rs9609459	1.00[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv962789	chr22:32540586-32558101	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32541400-32548600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:32543800-32547800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:32544000-32546400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr22:32544000-32548800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:32544800-32545200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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