Variant report

Variant	rs12500769
Chromosome Location	chr4:172496760-172496761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10025346	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11132910	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11132911	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11132912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500736	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1406510	0.94[ASN][1000 genomes]
rs1406511	0.93[ASN][1000 genomes]
rs1406512	0.94[ASN][1000 genomes]
rs1528938	0.84[CHB][hapmap]
rs1919492	0.96[ASN][1000 genomes]
rs1919493	0.96[ASN][1000 genomes]
rs1919494	0.96[ASN][1000 genomes]
rs1919495	0.91[ASN][1000 genomes]
rs1919496	0.86[ASN][1000 genomes]
rs2222788	0.94[ASN][1000 genomes]
rs2332359	0.91[ASN][1000 genomes]
rs2332360	0.96[ASN][1000 genomes]
rs3857031	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3902945	0.91[ASN][1000 genomes]
rs4235032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4392474	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4692892	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4692893	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830858	0.94[ASN][1000 genomes]
rs6848414	0.94[ASN][1000 genomes]
rs7667025	0.90[ASN][1000 genomes]
rs7674432	0.94[ASN][1000 genomes]
rs7676438	0.94[ASN][1000 genomes]
rs7676453	0.94[ASN][1000 genomes]
rs7688547	0.97[ASN][1000 genomes]
rs7689150	0.94[ASN][1000 genomes]
rs9993048	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv596195	chr4:172403576-172496926	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
2	nsv1034055	chr4:172405998-172500475	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1016311	chr4:172405998-172502210	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1026605	chr4:172405998-172506536	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1022077	chr4:172460997-172609297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537356	chr4:172460997-172609297	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172495800-172499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:172496200-172499000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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