Variant report

Variant	rs6493407
Chromosome Location	chr15:50442221-50442222
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50442015..50445819-chr15:50646242..50648814,3	MCF-7	breast:
2	chr15:50436327..50442259-chr15:50645496..50648593,7	MCF-7	breast:
3	chr15:50441826..50443865-chr15:50447312..50448895,2	MCF-7	breast:
4	chr15:50440355..50443331-chr15:50606446..50609339,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1896172	0.89[EUR][1000 genomes]
rs2414022	0.80[EUR][1000 genomes]
rs4499183	0.94[EUR][1000 genomes]
rs56362755	0.89[EUR][1000 genomes]
rs57453862	0.89[EUR][1000 genomes]
rs58073453	0.89[EUR][1000 genomes]
rs58282278	0.89[EUR][1000 genomes]
rs59964408	0.89[EUR][1000 genomes]
rs61367002	0.89[EUR][1000 genomes]
rs7162511	0.89[EUR][1000 genomes]
rs7168544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74012182	0.94[EUR][1000 genomes]
rs74014927	0.85[EUR][1000 genomes]
rs8031195	0.89[EUR][1000 genomes]
rs8034288	0.89[EUR][1000 genomes]
rs8037521	0.89[EUR][1000 genomes]
rs8037819	0.94[EUR][1000 genomes]
rs8038224	0.94[EUR][1000 genomes]
rs8039751	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039753	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50430600-50442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:50441600-50442600	Weak transcription	Hela-S3	cervix
3	chr15:50441600-50442600	Weak transcription	K562	blood
4	chr15:50441800-50443200	Weak transcription	HMEC	breast
5	chr15:50441800-50448600	Weak transcription	A549	lung

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