Variant report

Variant	rs12729923
Chromosome Location	chr1:192692255-192692256
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12724227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12726547	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12727381	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12727538	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12730514	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12731540	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12733584	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12743947	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12744645	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12747575	1.00[AMR][1000 genomes]
rs12748165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12749254	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12750259	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12752676	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12755754	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16834654	1.00[AMR][1000 genomes]
rs16834668	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834675	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834677	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16834693	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1933704	1.00[AMR][1000 genomes]
rs33945715	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34097781	1.00[AMR][1000 genomes]
rs34113351	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34192146	1.00[AMR][1000 genomes]
rs34347367	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34348864	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34495773	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34539703	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34960843	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35103963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35234624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35431149	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35491260	1.00[AMR][1000 genomes]
rs36034041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36082277	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36087525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36090855	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36125019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656146	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673110	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681333	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71639168	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71639169	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71639172	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71639173	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130449	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192690600-192695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:192691800-192693200	Weak transcription	NHDF-Ad	bronchial
3	chr1:192692200-192694000	Weak transcription	Fetal Lung	lung
4	chr1:192692200-192696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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