Variant report

Variant	rs11172480
Chromosome Location	chr12:39926875-39926876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39926553..39928856-chr12:39931123..39933872,2	K562	blood:

Variant related genes	Relation type
ENSG00000270273	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10877173	0.87[ASN][1000 genomes]
rs11172366	0.83[ASN][1000 genomes]
rs11172616	0.86[ASN][1000 genomes]
rs11172645	0.86[ASN][1000 genomes]
rs11172646	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11172647	0.86[ASN][1000 genomes]
rs11172687	0.86[ASN][1000 genomes]
rs11172692	0.86[ASN][1000 genomes]
rs11172697	0.86[ASN][1000 genomes]
rs11172848	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12227286	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12227668	0.80[ASN][1000 genomes]
rs12229370	0.89[ASN][1000 genomes]
rs12230055	0.89[ASN][1000 genomes]
rs2271478	0.92[AMR][1000 genomes]
rs35790935	0.89[ASN][1000 genomes]
rs35858791	0.89[ASN][1000 genomes]
rs4072006	0.80[ASN][1000 genomes]
rs4285917	0.83[ASN][1000 genomes]
rs4294600	0.86[ASN][1000 genomes]
rs4298947	0.85[ASN][1000 genomes]
rs4639970	0.82[ASN][1000 genomes]
rs57847223	0.86[ASN][1000 genomes]
rs58036566	0.86[ASN][1000 genomes]
rs59518553	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133599	0.86[ASN][1000 genomes]
rs7309234	0.92[ASN][1000 genomes]
rs73094488	0.83[ASN][1000 genomes]
rs7310178	0.86[ASN][1000 genomes]
rs7310871	0.86[ASN][1000 genomes]
rs7980857	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9668500	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1048933	chr12:39886665-39946270	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' 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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39926000-39934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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