Variant report

Variant	rs73283583
Chromosome Location	chr14:39430261-39430262
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57566573	1.00[AMR][1000 genomes]
rs59371684	1.00[AMR][1000 genomes]
rs59919221	1.00[AMR][1000 genomes]
rs73277148	1.00[AMR][1000 genomes]
rs73277152	1.00[AMR][1000 genomes]
rs73285719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285766	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287662	1.00[AMR][1000 genomes]
rs73291562	1.00[AMR][1000 genomes]
rs73291565	1.00[AMR][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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39414200-39433600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:39428000-39431200	Enhancers	Brain Hippocampus Middle	brain
3	chr14:39428400-39431200	Enhancers	Brain Substantia Nigra	brain
4	chr14:39428600-39431600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:39428600-39435400	Weak transcription	Left Ventricle	heart
6	chr14:39428800-39431000	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:39428800-39433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:39429000-39434000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:39430000-39430400	Enhancers	Fetal Kidney	kidney
10	chr14:39430200-39433800	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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