Variant report

Variant	rs61917792
Chromosome Location	chr12:67478346-67478347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67462240..67466033-chr12:67477122..67480393,4	MCF-7	breast:
2	chr12:67475770..67479143-chr12:67480530..67483271,3	MCF-7	breast:
3	chr12:67478228..67481093-chr12:67612107..67614735,2	MCF-7	breast:
4	chr12:67462372..67464494-chr12:67477959..67482038,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256248	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12315969	0.85[EUR][1000 genomes]
rs12367764	0.85[EUR][1000 genomes]
rs12372307	0.85[EUR][1000 genomes]
rs1465024	0.85[EUR][1000 genomes]
rs1465025	0.85[EUR][1000 genomes]
rs1526841	0.85[EUR][1000 genomes]
rs1581599	0.92[EUR][1000 genomes]
rs1918141	0.92[EUR][1000 genomes]
rs2177937	0.85[EUR][1000 genomes]
rs4913526	0.85[EUR][1000 genomes]
rs4913527	0.92[EUR][1000 genomes]
rs61917786	0.81[EUR][1000 genomes]
rs61917787	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61917788	1.00[EUR][1000 genomes]
rs61917789	1.00[EUR][1000 genomes]
rs61917790	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917794	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917796	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917797	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917798	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917799	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917801	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917804	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61917826	0.92[EUR][1000 genomes]
rs61917835	0.85[EUR][1000 genomes]
rs6581741	0.85[EUR][1000 genomes]
rs6581742	0.85[EUR][1000 genomes]
rs6581743	0.85[EUR][1000 genomes]
rs7305006	0.85[EUR][1000 genomes]
rs7965693	0.85[EUR][1000 genomes]
rs7966396	0.85[EUR][1000 genomes]
rs941097	0.85[EUR][1000 genomes]
rs941098	0.85[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	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	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
3	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67474200-67479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:67474400-67479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:67476800-67482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:67478000-67482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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