Variant report

Variant	rs4913522
Chromosome Location	chr12:67472754-67472755
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	chr12:67460367..67464425-chr12:67465973..67473216,9	MCF-7	breast:
2	chr12:67471853..67474414-chr12:67474964..67477043,2	K562	blood:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10784604	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878554	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10878557	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11176559	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11176566	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176574	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1526834	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17781082	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918144	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1949940	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2293420	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2870928	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4368011	0.88[EUR][1000 genomes]
rs4913315	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913316	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913524	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302646	0.98[ASN][1000 genomes]
rs7305168	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962903	0.98[ASN][1000 genomes]
rs7973341	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978633	0.98[ASN][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	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv469462	chr12:67361657-67475906	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv559211	chr12:67361657-67475906	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv899217	chr12:67472631-67501987	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:67469000-67473000	Enhancers	HMEC	breast
2	chr12:67471400-67475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67471800-67474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67472200-67475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:67472600-67474800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:67472600-67475400	Weak transcription	NHEK	skin

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