Variant report

Variant	rs72671309
Chromosome Location	chr14:39428628-39428629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs45469795	0.85[EUR][1000 genomes]
rs45540035	0.87[EUR][1000 genomes]
rs55790340	0.85[EUR][1000 genomes]
rs55997577	0.87[EUR][1000 genomes]
rs56063785	0.87[EUR][1000 genomes]
rs56074634	0.85[EUR][1000 genomes]
rs56087094	0.87[EUR][1000 genomes]
rs56103446	0.87[EUR][1000 genomes]
rs56125789	0.87[EUR][1000 genomes]
rs56136756	0.87[EUR][1000 genomes]
rs56225465	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56237815	0.87[EUR][1000 genomes]
rs56328886	0.87[EUR][1000 genomes]
rs56333870	0.89[EUR][1000 genomes]
rs56334607	0.87[EUR][1000 genomes]
rs56335002	0.85[EUR][1000 genomes]
rs56341545	0.87[EUR][1000 genomes]
rs59418195	0.80[EUR][1000 genomes]
rs67808375	0.85[EUR][1000 genomes]
rs72669383	0.82[EUR][1000 genomes]
rs72669388	0.91[EUR][1000 genomes]
rs72669397	0.91[EUR][1000 genomes]
rs72669399	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72669400	0.98[EUR][1000 genomes]
rs72671304	0.98[EUR][1000 genomes]
rs72671307	0.98[EUR][1000 genomes]
rs72671311	0.98[EUR][1000 genomes]
rs72671316	0.87[EUR][1000 genomes]
rs72671332	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72671333	0.87[EUR][1000 genomes]
rs72671344	0.87[EUR][1000 genomes]
rs72671349	0.87[EUR][1000 genomes]
rs72671353	0.87[EUR][1000 genomes]
rs72671360	0.82[EUR][1000 genomes]
rs72671362	0.82[EUR][1000 genomes]
rs72671367	0.82[EUR][1000 genomes]
rs72671372	0.87[EUR][1000 genomes]
rs72671379	0.87[EUR][1000 genomes]
rs72671382	0.87[EUR][1000 genomes]
rs72671387	0.87[EUR][1000 genomes]
rs72671398	0.87[EUR][1000 genomes]
rs72671400	0.87[EUR][1000 genomes]
rs72673314	0.83[EUR][1000 genomes]
rs72673315	0.85[EUR][1000 genomes]
rs72673316	0.85[EUR][1000 genomes]
rs72673317	0.85[EUR][1000 genomes]
rs72673318	0.82[EUR][1000 genomes]
rs72673328	0.80[EUR][1000 genomes]
rs72673329	0.80[EUR][1000 genomes]
rs72673339	0.80[EUR][1000 genomes]
rs72673340	1.00[AFR][1000 genomes]
rs8009457	0.87[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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv901657	chr14:39410706-39460072	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39414200-39433600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:39425400-39428800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:39428000-39431200	Enhancers	Brain Hippocampus Middle	brain
4	chr14:39428200-39429000	Enhancers	Brain Anterior Caudate	brain
5	chr14:39428400-39429000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:39428400-39431200	Enhancers	Brain Substantia Nigra	brain
7	chr14:39428600-39431600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:39428600-39435400	Weak transcription	Left Ventricle	heart

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