Variant report

Variant	rs12904711
Chromosome Location	chr15:50680768-50680769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50646276..50650534-chr15:50680183..50686065,7	MCF-7	breast:
2	chr15:50647718..50649902-chr15:50680619..50683517,3	K562	blood:
3	chr15:50677614..50679123-chr15:50679708..50682043,2	MCF-7	breast:
4	chr15:50653224..50655834-chr15:50679603..50681544,2	MCF-7	breast:
5	chr15:50655847..50659285-chr15:50680641..50684000,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11630063	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11631197	0.91[EUR][1000 genomes]
rs11637975	0.91[EUR][1000 genomes]
rs12904469	0.91[EUR][1000 genomes]
rs12908591	0.91[EUR][1000 genomes]
rs12909337	0.93[EUR][1000 genomes]
rs28453939	0.89[EUR][1000 genomes]
rs28534445	0.94[EUR][1000 genomes]
rs28690939	0.90[EUR][1000 genomes]
rs28719982	0.93[EUR][1000 genomes]
rs34143694	0.91[EUR][1000 genomes]
rs34312018	0.89[EUR][1000 genomes]
rs35013067	0.90[EUR][1000 genomes]
rs35354250	0.91[EUR][1000 genomes]
rs35446819	0.90[EUR][1000 genomes]
rs35453213	0.91[EUR][1000 genomes]
rs4774559	0.91[EUR][1000 genomes]
rs4775873	0.89[EUR][1000 genomes]
rs526952	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164375	0.87[EUR][1000 genomes]
rs7164377	0.87[EUR][1000 genomes]
rs7164798	0.91[EUR][1000 genomes]
rs7175150	0.90[EUR][1000 genomes]
rs7183422	0.93[EUR][1000 genomes]
rs73399285	0.92[EUR][1000 genomes]
rs8024514	0.91[EUR][1000 genomes]
rs8030952	0.90[EUR][1000 genomes]
rs8042053	0.90[EUR][1000 genomes]
rs8043475	0.90[EUR][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	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50671600-50682800	Weak transcription	GM12878-XiMat	blood
2	chr15:50677000-50690400	Weak transcription	Right Atrium	heart
3	chr15:50680400-50680800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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