Variant report

Variant	rs2094254
Chromosome Location	chr13:39571328-39571329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1109625	1.00[CEU][hapmap]
rs11147745	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12428445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12429324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12429338	0.99[ASN][1000 genomes]
rs12430450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12431316	1.00[ASN][1000 genomes]
rs1326405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17058947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17058990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17059014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2094252	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094253	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104518	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2274385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2296648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs34316151	1.00[ASN][1000 genomes]
rs34327528	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35804724	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35864330	1.00[ASN][1000 genomes]
rs3751377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3751378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3751379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3812879	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4142398	0.85[ASN][1000 genomes]
rs55809136	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66496062	1.00[ASN][1000 genomes]
rs66908302	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67296293	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73169457	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7317852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7318688	0.95[ASN][1000 genomes]
rs7327748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7987207	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7994530	0.87[ASN][1000 genomes]
rs7997052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7998475	1.00[ASN][1000 genomes]
rs8000929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9566385	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9566389	0.99[ASN][1000 genomes]
rs9566391	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9566393	0.85[ASN][1000 genomes]
rs9566396	0.85[ASN][1000 genomes]
rs9576666	1.00[CEU][hapmap]
rs9576669	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576670	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576673	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576674	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576676	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576677	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576681	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576683	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576684	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576685	1.00[ASN][1000 genomes]
rs9576686	1.00[ASN][1000 genomes]
rs9576688	1.00[ASN][1000 genomes]
rs9576690	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576691	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9576692	1.00[ASN][1000 genomes]
rs9576693	0.98[ASN][1000 genomes]
rs9576695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576696	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9576698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9576699	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs9576700	0.99[ASN][1000 genomes]
rs9576701	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576703	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576707	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9576710	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9576711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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
rs2094254	C13orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39568000-39571800	Weak transcription	K562	blood
2	chr13:39570800-39571600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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