Variant report

Variant	rs12730939
Chromosome Location	chr1:158331581-158331582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10218835	0.87[EUR][1000 genomes]
rs11799792	0.81[EUR][1000 genomes]
rs12726939	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12728922	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12740657	0.93[EUR][1000 genomes]
rs12742463	0.81[EUR][1000 genomes]
rs12746150	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12746659	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12747417	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12754843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12756570	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12756846	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12760278	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34250639	1.00[AFR][1000 genomes]
rs34460006	0.81[EUR][1000 genomes]
rs34550978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34633423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34789355	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34835673	1.00[AFR][1000 genomes]
rs34978214	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35150375	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35289606	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35301262	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57808248	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71632611	1.00[AMR][1000 genomes];0.95[EUR][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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv831692	chr1:158223459-158392016	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998569	chr1:158317392-158443389	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1010608	chr1:158322815-158353465	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158330600-158331800	Weak transcription	Fetal Thymus	thymus
2	chr1:158330600-158331800	Weak transcription	Dnd41	blood
3	chr1:158330600-158332000	Weak transcription	Thymus	Thymus

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