Variant report

Variant	rs72738754
Chromosome Location	chr1:219973868-219973869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11118426	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118427	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118428	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118429	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118430	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11118431	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11803657	0.84[AFR][1000 genomes]
rs11805110	0.84[AFR][1000 genomes]
rs11808330	0.84[AFR][1000 genomes]
rs12080869	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12082170	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12083182	0.81[EUR][1000 genomes]
rs12089488	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12095559	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17006687	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17551179	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066418	0.82[AFR][1000 genomes]
rs4308987	0.82[AFR][1000 genomes]
rs55664953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740390	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55753922	0.91[AFR][1000 genomes]
rs55800251	0.84[AFR][1000 genomes]
rs55828554	0.96[AFR][1000 genomes]
rs55920559	0.84[AFR][1000 genomes]
rs55931064	0.88[AFR][1000 genomes]
rs55956414	0.96[AFR][1000 genomes]
rs55977511	0.96[AFR][1000 genomes]
rs56073293	0.84[AFR][1000 genomes]
rs56088885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56170642	0.96[AFR][1000 genomes]
rs56213832	0.91[AFR][1000 genomes]
rs56331091	0.96[AFR][1000 genomes]
rs58859585	0.96[AFR][1000 genomes]
rs60827853	0.96[AFR][1000 genomes]
rs6672682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686864	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687322	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72738750	0.84[AFR][1000 genomes]
rs72738751	0.84[AFR][1000 genomes]
rs72738753	0.91[AFR][1000 genomes]
rs72738758	0.96[AFR][1000 genomes]
rs72738763	0.96[AFR][1000 genomes]
rs72738777	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72738783	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7527063	0.85[ASN][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv947518	chr1:219967913-219974435	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:219966400-219980200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:219970200-219975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:219970600-219974000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:219971600-219974200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:219972200-219985600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:219972800-219974200	Weak transcription	NHLF	lung
7	chr1:219973200-219974200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:219973400-219975200	Enhancers	NHDF-Ad	bronchial
9	chr1:219973600-219974400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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