Variant report

Variant	rs2814087
Chromosome Location	chr1:227632334-227632335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11799974	0.87[AFR][1000 genomes]
rs11802190	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2493824	0.92[AFR][1000 genomes]
rs2644136	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2644141	0.92[AFR][1000 genomes]
rs2814091	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2819513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819516	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2819519	0.81[AMR][1000 genomes];0.83[ASN][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227629000-227635200	Weak transcription	HUVEC	blood vessel
2	chr1:227630000-227634800	Weak transcription	Left Ventricle	heart
3	chr1:227630000-227636600	Weak transcription	Right Ventricle	heart
4	chr1:227630600-227632600	Enhancers	Brain Angular Gyrus	brain
5	chr1:227631600-227632600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:227631600-227633200	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:227631800-227632600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:227631800-227632600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:227631800-227632800	Enhancers	Brain Anterior Caudate	brain
10	chr1:227632000-227632400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:227632000-227632600	Enhancers	Brain Substantia Nigra	brain
12	chr1:227632000-227635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:227632200-227635400	Weak transcription	Fetal Kidney	kidney

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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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