Variant report

Variant	rs221511
Chromosome Location	chr14:80081305-80081306
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs17109649	0.94[ASN][1000 genomes]
rs172711	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1816146	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs182610	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs184347	0.84[EUR][1000 genomes]
rs191991	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221436	0.85[EUR][1000 genomes]
rs221437	0.82[EUR][1000 genomes]
rs221439	0.85[EUR][1000 genomes]
rs221440	0.85[EUR][1000 genomes]
rs221442	0.84[EUR][1000 genomes]
rs221443	0.86[EUR][1000 genomes]
rs221444	0.85[EUR][1000 genomes]
rs221445	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs221446	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs221447	0.85[EUR][1000 genomes]
rs221448	0.86[EUR][1000 genomes]
rs221449	0.83[EUR][1000 genomes]
rs221450	0.85[EUR][1000 genomes]
rs221451	0.89[ASN][1000 genomes]
rs221452	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs221453	0.90[ASN][1000 genomes]
rs221455	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs221456	0.86[EUR][1000 genomes]
rs221457	0.91[ASN][1000 genomes]
rs221459	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs221465	0.84[ASN][1000 genomes]
rs221467	0.87[ASN][1000 genomes]
rs221468	0.86[ASN][1000 genomes]
rs221469	0.80[ASN][1000 genomes]
rs221471	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221473	0.94[ASN][1000 genomes]
rs221474	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs221480	0.97[ASN][1000 genomes]
rs221481	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221482	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221483	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221484	0.90[EUR][1000 genomes]
rs221485	0.93[ASN][1000 genomes]
rs221497	1.00[ASN][1000 genomes]
rs221512	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221513	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221514	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs221516	0.91[ASN][1000 genomes]
rs2543584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55933035	0.87[ASN][1000 genomes]
rs69029	0.85[EUR][1000 genomes]
rs918937	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80080000-80081400	Enhancers	Brain Angular Gyrus	brain
2	chr14:80080400-80081400	Flanking Active TSS	Brain Substantia Nigra	brain
3	chr14:80080400-80081600	Enhancers	Brain Cingulate Gyrus	brain
4	chr14:80080800-80081400	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr14:80081000-80081400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:80081200-80081400	Enhancers	Brain Anterior Caudate	brain
7	chr14:80081200-80081400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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