Variant report

Variant	rs12431316
Chromosome Location	chr13:39573324-39573325
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11147745	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12428445	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429324	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429338	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12430450	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1326405	0.95[ASN][1000 genomes]
rs17058947	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17058990	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17059014	0.95[ASN][1000 genomes]
rs2094252	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2094253	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2094254	1.00[ASN][1000 genomes]
rs2104518	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2274384	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2274385	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296648	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34316151	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34327528	1.00[ASN][1000 genomes]
rs35804724	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35864330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751377	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751378	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751379	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812879	0.84[ASN][1000 genomes]
rs4142398	0.85[ASN][1000 genomes]
rs55809136	0.95[ASN][1000 genomes]
rs66496062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66908302	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs67296293	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73169457	1.00[ASN][1000 genomes]
rs7317852	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7318688	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327748	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs747752	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987207	0.99[ASN][1000 genomes]
rs7994530	0.87[ASN][1000 genomes]
rs7997052	0.98[ASN][1000 genomes]
rs7998475	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000929	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9566385	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9566389	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566391	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9566393	0.85[ASN][1000 genomes]
rs9566396	0.85[ASN][1000 genomes]
rs9576669	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9576670	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576673	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9576674	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576676	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576677	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576678	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576679	0.97[ASN][1000 genomes]
rs9576681	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576683	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576684	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576685	1.00[ASN][1000 genomes]
rs9576686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576688	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576690	0.99[ASN][1000 genomes]
rs9576691	0.83[ASN][1000 genomes]
rs9576692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576693	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576695	1.00[ASN][1000 genomes]
rs9576696	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576697	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576698	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576699	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576700	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576701	0.95[ASN][1000 genomes]
rs9576703	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9576705	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9576707	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9576710	0.87[ASN][1000 genomes]
rs9576711	0.87[ASN][1000 genomes]
rs9576717	0.85[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12431316	C13orf23	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39571600-39583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:39572200-39584600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:39573000-39573400	Enhancers	K562	blood

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