Variant report

Variant	rs55920759
Chromosome Location	chr22:32547504-32547505
allele	A/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	REST	chr22:32547497-32547827	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr22:32547089-32547530	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
C22orf42	TF binding region
ENSG00000183531	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1076906	0.86[ASN][1000 genomes]
rs11089537	1.00[ASN][1000 genomes]
rs12159428	0.86[ASN][1000 genomes]
rs12160839	0.86[ASN][1000 genomes]
rs2006233	0.86[ASN][1000 genomes]
rs2006253	0.86[ASN][1000 genomes]
rs28590200	0.86[ASN][1000 genomes]
rs5994471	0.86[ASN][1000 genomes]
rs5994472	0.86[ASN][1000 genomes]
rs5994473	0.86[ASN][1000 genomes]
rs5994475	0.89[AFR][1000 genomes]
rs5998234	0.86[ASN][1000 genomes]
rs5998249	0.86[ASN][1000 genomes]
rs5998264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998265	0.89[AFR][1000 genomes]
rs5998269	0.96[EUR][1000 genomes]
rs7287435	0.86[ASN][1000 genomes]
rs73881619	0.91[EUR][1000 genomes]
rs8138116	0.86[ASN][1000 genomes]
rs9606899	0.86[ASN][1000 genomes]
rs9606901	0.86[ASN][1000 genomes]
rs9606909	0.86[ASN][1000 genomes]
rs9606910	0.86[ASN][1000 genomes]
rs9606911	0.86[ASN][1000 genomes]
rs9609421	0.86[ASN][1000 genomes]
rs9609422	0.86[ASN][1000 genomes]
rs9609424	0.86[ASN][1000 genomes]
rs9609434	0.86[ASN][1000 genomes]
rs9609435	0.86[ASN][1000 genomes]
rs9609438	0.86[ASN][1000 genomes]
rs9609440	0.86[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	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
9	esv3350218	chr22:32546659-32547756	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 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	chr22:32544000-32548800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr22:32546400-32547600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr22:32546400-32548200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr22:32547400-32547600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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