Variant report

Variant	rs221450
Chromosome Location	chr14:80123504-80123505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs172711	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1816146	0.88[EUR][1000 genomes]
rs182610	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs184347	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs191991	0.87[EUR][1000 genomes]
rs221436	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221437	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs221440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221443	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221445	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221446	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs221447	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221448	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221452	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs221455	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221456	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs221459	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221471	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221474	0.84[EUR][1000 genomes]
rs221481	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221482	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221483	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221484	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221511	0.85[EUR][1000 genomes]
rs221512	0.85[EUR][1000 genomes]
rs221513	0.86[EUR][1000 genomes]
rs221514	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2543584	0.84[EUR][1000 genomes]
rs69029	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918937	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323675	0.95[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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr14:80113200-80135400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80122800-80124800	Weak transcription	Fetal Muscle Leg	muscle

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