Variant report

Variant	rs12318248
Chromosome Location	chr12:46393434-46393435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46382194..46387214-chr12:46392482..46398742,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161306	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062905	0.99[ASN][1000 genomes]
rs10880867	0.87[ASN][1000 genomes]
rs10880873	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10880874	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10880883	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183223	0.83[ASN][1000 genomes]
rs11183226	0.86[ASN][1000 genomes]
rs11183228	0.86[ASN][1000 genomes]
rs11183229	0.85[ASN][1000 genomes]
rs11183234	0.96[ASN][1000 genomes]
rs11183251	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11183273	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183275	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11574964	0.92[ASN][1000 genomes]
rs12315290	0.81[AMR][1000 genomes]
rs1427750	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17096308	0.90[ASN][1000 genomes]
rs17096361	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1896539	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144983	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768099	0.92[ASN][1000 genomes]
rs4768100	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4768670	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4768672	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768673	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768674	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4768675	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56146240	0.88[ASN][1000 genomes]
rs61924070	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67136007	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735351	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active 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	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr12:46389000-46394800	Weak transcription	HepG2	liver
2	chr12:46393400-46393800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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