Variant report

Variant	rs11172264
Chromosome Location	chr12:39871190-39871191
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	chr12:39838865..39841148-chr12:39868533..39871402,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10876972	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10876989	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11172108	0.81[ASN][1000 genomes]
rs11172120	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11172174	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11172183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11172235	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172282	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172293	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172319	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172320	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172357	0.80[ASN][1000 genomes]
rs11172386	0.80[ASN][1000 genomes]
rs11172392	0.80[ASN][1000 genomes]
rs11172541	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172650	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4320988	0.80[ASN][1000 genomes]
rs4378431	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4466883	0.85[EUR][1000 genomes]
rs4492858	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4564382	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58240943	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58613501	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59695906	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60263267	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60900225	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581188	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73094410	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7962283	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7965222	0.81[ASN][1000 genomes]
rs7966540	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7974928	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7979444	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39870600-39871200	Enhancers	K562	blood
2	chr12:39871000-39871400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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