Variant report

Variant	rs12818756
Chromosome Location	chr12:56454298-56454299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56453956..56456454-chr12:56472074..56474729,2	K562	blood:
2	chr12:56451618..56456572-chr12:56471956..56474542,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065361	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12099979	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12810011	1.00[EUR][1000 genomes]
rs12815302	0.95[EUR][1000 genomes]
rs12815387	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12815488	1.00[EUR][1000 genomes]
rs12817471	0.85[EUR][1000 genomes]
rs12831468	1.00[EUR][1000 genomes]
rs1614219	0.98[EUR][1000 genomes]
rs1689511	0.95[EUR][1000 genomes]
rs1701706	0.91[EUR][1000 genomes]
rs17118262	1.00[EUR][1000 genomes]
rs2131569	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2456972	0.98[EUR][1000 genomes]
rs2658479	0.94[EUR][1000 genomes]
rs34228181	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34303864	1.00[EUR][1000 genomes]
rs34406511	1.00[EUR][1000 genomes]
rs34485293	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34507011	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34602183	0.96[EUR][1000 genomes]
rs34650555	1.00[EUR][1000 genomes]
rs34921584	1.00[EUR][1000 genomes]
rs35485002	0.96[EUR][1000 genomes]
rs35662491	0.85[EUR][1000 genomes]
rs35666826	0.89[EUR][1000 genomes]
rs35961650	0.94[EUR][1000 genomes]
rs4759022	1.00[EUR][1000 genomes]
rs4759239	0.94[EUR][1000 genomes]
rs71459334	1.00[EUR][1000 genomes]
rs71459336	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71459339	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71459342	0.89[EUR][1000 genomes]
rs7298818	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300772	0.98[EUR][1000 genomes]
rs772919	0.89[EUR][1000 genomes]
rs772922	0.91[EUR][1000 genomes]
rs772923	0.92[EUR][1000 genomes]
rs773115	0.94[EUR][1000 genomes]
rs7963590	0.89[EUR][1000 genomes]
rs7977537	0.95[EUR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12818756	LOC644166///LOC644191///LOC728937///RPS26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56440800-56455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56449200-56456400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:56453600-56454400	Enhancers	Placenta	Placenta
5	chr12:56453800-56454400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:56454000-56454400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:56454000-56454400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:56454000-56454400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:56454000-56454400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:56454000-56454400	Enhancers	HMEC	breast
11	chr12:56454000-56454400	Enhancers	NHEK	skin
12	chr12:56454000-56454400	Enhancers	Osteobl	bone

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