Variant report

Variant	rs55653124
Chromosome Location	chr12:41296316-41296317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1083206	0.87[ASN][1000 genomes]
rs11178929	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178961	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11178968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179174	0.87[ASN][1000 genomes]
rs12296475	0.87[ASN][1000 genomes]
rs12297672	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12307865	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12310421	0.82[AFR][1000 genomes]
rs12316203	1.00[EUR][1000 genomes]
rs12316567	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13328933	0.87[ASN][1000 genomes]
rs13377827	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442183	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1866996	0.87[ASN][1000 genomes]
rs278903	0.87[ASN][1000 genomes]
rs278914	0.87[ASN][1000 genomes]
rs280355	0.87[ASN][1000 genomes]
rs34870140	0.82[AFR][1000 genomes]
rs397967	0.87[ASN][1000 genomes]
rs59599863	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60409838	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61443681	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61653748	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67249613	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs693762	0.87[ASN][1000 genomes]
rs7134389	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7139018	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7301266	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7303815	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312528	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7314325	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73275657	0.87[EUR][1000 genomes]
rs73275677	0.87[ASN][1000 genomes]
rs73275694	0.87[ASN][1000 genomes]
rs73277750	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 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	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41294800-41297000	Weak transcription	Ovary	ovary
3	chr12:41296000-41297200	Enhancers	A549	lung

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