Variant report

Variant	rs4873750
Chromosome Location	chr8:54400418-54400419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10090113	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11784703	0.94[ASN][1000 genomes]
rs1471410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16919215	0.89[AFR][1000 genomes]
rs16919228	0.89[AFR][1000 genomes]
rs4873253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873254	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873751	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4873752	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4873753	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6983022	0.93[AFR][1000 genomes]
rs7003777	0.85[EUR][1000 genomes]
rs7357373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs899108	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4873750	RP11-1081M5.1	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54398200-54402200	Enhancers	Fetal Heart	heart
2	chr8:54398200-54403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:54398400-54401200	Weak transcription	Ovary	ovary
4	chr8:54399200-54408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:54400000-54407400	Weak transcription	Left Ventricle	heart
6	chr8:54400200-54407600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:54400400-54401000	Strong transcription	Aorta	Aorta
8	chr8:54400400-54401400	Enhancers	Right Ventricle	heart

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Input of quick search could be:

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

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