Variant report

Variant	rs12422372
Chromosome Location	chr12:59445461-59445462
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	chr12:59443922..59445981-chr12:59446568..59448120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257288	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172873	0.99[EUR][1000 genomes]
rs11172874	1.00[EUR][1000 genomes]
rs11172876	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172878	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172880	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172881	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172882	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172891	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172898	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12367126	0.99[EUR][1000 genomes]
rs12368035	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368658	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370707	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371014	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425735	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444099	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1568303	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17536893	0.99[EUR][1000 genomes]
rs17537939	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627506	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120527	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205785	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61919550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61934309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314727	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960109	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7980955	0.83[AMR][1000 genomes];0.99[EUR][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv975501	chr12:59441514-59445888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:59441000-59450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59442000-59446400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:59442000-59446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:59442000-59446800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59442000-59446800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59442000-59446800	Weak transcription	HMEC	breast
7	chr12:59442000-59446800	Weak transcription	NHEK	skin

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