Variant report

Variant	rs73363654
Chromosome Location	chr12:76068389-76068390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76064771..76066342-chr12:76067117..76069472,2	MCF-7	breast:
2	chr12:76055355..76059322-chr12:76064215..76068912,5	MCF-7	breast:
3	chr12:76068112..76069777-chr12:76084700..76086903,2	K562	blood:
4	chr12:76068215..76070217-chr12:76423277..76426021,2	K562	blood:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000258077	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17115491	0.92[AFR][1000 genomes]
rs58434374	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59665018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61279777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363680	0.92[AFR][1000 genomes]
rs73363684	1.00[AMR][1000 genomes]
rs73363685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73363692	1.00[AMR][1000 genomes]
rs73363694	1.00[AMR][1000 genomes]
rs73363698	1.00[AMR][1000 genomes]
rs73363701	1.00[AMR][1000 genomes]
rs73365803	1.00[AMR][1000 genomes]
rs74109621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112478	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76066400-76077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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