Variant report

Variant	rs11705250
Chromosome Location	chr22:31466638-31466639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31460561..31462331-chr22:31465438..31468064,2	K562	blood:
2	chr22:31464585..31466786-chr22:31479626..31481207,2	MCF-7	breast:
3	chr22:31465732..31467345-chr22:31476374..31477926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10427701	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854603	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705252	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11705313	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705319	0.89[AFR][1000 genomes]
rs11705351	0.86[AFR][1000 genomes]
rs11705369	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11705396	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12157450	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12165471	0.97[ASN][1000 genomes]
rs12170984	0.95[ASN][1000 genomes]
rs12330058	0.97[ASN][1000 genomes]
rs13057068	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006301	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35060453	0.97[ASN][1000 genomes]
rs5021960	0.82[AMR][1000 genomes]
rs5994365	0.88[ASN][1000 genomes]
rs5994368	0.97[ASN][1000 genomes]
rs5994370	0.97[ASN][1000 genomes]
rs5997863	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997864	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997866	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997871	0.87[ASN][1000 genomes]
rs5997872	0.88[ASN][1000 genomes]
rs7284593	0.95[ASN][1000 genomes]
rs7287041	0.86[AFR][1000 genomes]
rs7291565	0.92[ASN][1000 genomes]
rs7292038	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292982	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs736901	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9619166	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619167	0.95[ASN][1000 genomes]
rs9621175	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
2	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:31466200-31467400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:31466200-31471800	Weak transcription	Osteobl	bone
5	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:31466400-31471800	Weak transcription	NHEK	skin

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