Variant report

Variant	rs56220552
Chromosome Location	chr12:42333011-42333012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs11181265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1157577	1.00[EUR][1000 genomes]
rs11836064	1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17090752	1.00[EUR][1000 genomes]
rs1920698	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58627781	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59980396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685931	1.00[AMR][1000 genomes]
rs73270611	1.00[EUR][1000 genomes]
rs73274214	1.00[EUR][1000 genomes]
rs73274218	1.00[EUR][1000 genomes]
rs73274236	1.00[EUR][1000 genomes]
rs73274275	1.00[EUR][1000 genomes]
rs73274301	1.00[EUR][1000 genomes]
rs73276306	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	1.00[EUR][1000 genomes]
rs73276381	1.00[EUR][1000 genomes]
rs73276390	1.00[EUR][1000 genomes]
rs73276399	1.00[EUR][1000 genomes]
rs73278206	1.00[EUR][1000 genomes]
rs73278217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs74077428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077437	1.00[AMR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42326800-42333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:42328000-42336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:42332600-42333800	Weak transcription	Fetal Lung	lung
4	chr12:42333000-42333200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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