Variant report

Variant	rs73786108
Chromosome Location	chr5:126808907-126808908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11950427	0.82[EUR][1000 genomes]
rs17444885	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17604615	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17604665	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604777	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604819	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604882	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17604889	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604946	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673474	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17673517	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17673685	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17673995	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17839690	0.83[EUR][1000 genomes]
rs2068168	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2408871	0.82[EUR][1000 genomes]
rs3812053	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812054	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41298308	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41298312	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57256097	0.95[EUR][1000 genomes]
rs6595768	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874752	0.82[EUR][1000 genomes]
rs6882034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892742	0.81[ASN][1000 genomes]
rs72788576	0.80[ASN][1000 genomes]
rs72788578	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72788581	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72788599	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790405	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790408	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790410	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790411	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790412	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790417	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790418	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790419	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790422	0.82[EUR][1000 genomes]
rs72790424	0.82[EUR][1000 genomes]
rs72790426	0.82[EUR][1000 genomes]
rs72790428	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790430	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790433	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790438	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790444	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72790451	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72790460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790468	0.99[EUR][1000 genomes]
rs72790470	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790475	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72790483	0.98[EUR][1000 genomes]
rs72790485	0.98[EUR][1000 genomes]
rs72790487	0.91[EUR][1000 genomes]
rs7718640	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7730171	0.94[EUR][1000 genomes]
rs7731380	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126808000-126809400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:126808000-126811000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:126808800-126809200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:126808800-126809400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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