Variant report

Variant	rs12788466
Chromosome Location	chr11:56946551-56946552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:56946373-56946561	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56945716..56947687-chr11:56952025..56954655,2	K562	blood:
2	chr11:56946370..56948285-chr11:56958607..56960284,2	MCF-7	breast:

Variant related genes	Relation type
LRRC55	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1124846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	1.00[CEU][hapmap]
rs12808495	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17145552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145556	1.00[EUR][1000 genomes]
rs17151664	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17151671	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17151703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651297	0.89[EUR][1000 genomes]
rs1939488	1.00[CEU][hapmap]
rs1941034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1941037	0.97[EUR][1000 genomes]
rs1941054	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1941055	0.95[EUR][1000 genomes]
rs1941056	0.95[EUR][1000 genomes]
rs1943477	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943478	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943485	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1943488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156457	0.92[EUR][1000 genomes]
rs2156458	0.92[EUR][1000 genomes]
rs2156460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212608	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2860252	0.97[EUR][1000 genomes]
rs2860498	0.97[EUR][1000 genomes]
rs2860508	0.97[EUR][1000 genomes]
rs2866128	0.97[EUR][1000 genomes]
rs2866129	0.97[EUR][1000 genomes]
rs2960562	0.97[EUR][1000 genomes]
rs3017315	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3017316	0.97[EUR][1000 genomes]
rs3017569	0.97[EUR][1000 genomes]
rs3017572	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3017576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34960942	0.95[EUR][1000 genomes]
rs35845551	0.89[EUR][1000 genomes]
rs61058019	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591419	1.00[CEU][hapmap]
rs7103802	0.97[EUR][1000 genomes]
rs71484422	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484424	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484425	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746885	0.87[EUR][1000 genomes]
rs948843	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:56946200-56947800	Enhancers	Fetal Brain Male	brain
2	chr11:56946400-56946600	Enhancers	Fetal Brain Female	brain
3	chr11:56946400-56947400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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