Variant report

Variant	rs4873253
Chromosome Location	chr8:54409948-54409949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10090113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10097151	0.88[EUR][1000 genomes]
rs10100538	0.88[EUR][1000 genomes]
rs11784703	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471410	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477953	0.83[EUR][1000 genomes]
rs1531520	0.86[EUR][1000 genomes]
rs2889303	0.87[EUR][1000 genomes]
rs3892	0.83[EUR][1000 genomes]
rs4873254	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4873750	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873751	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873752	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873753	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873755	0.84[EUR][1000 genomes]
rs6995863	0.88[EUR][1000 genomes]
rs7013700	0.84[EUR][1000 genomes]
rs7357373	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs899106	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][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
rs4873253	RP11-1081M5.1	cis	Artery Aorta	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54401000-54412600	Weak transcription	Aorta	Aorta
2	chr8:54404800-54410200	Enhancers	Fetal Heart	heart
3	chr8:54406600-54410000	Enhancers	Fetal Muscle Leg	muscle
4	chr8:54406800-54410200	Enhancers	Right Ventricle	heart
5	chr8:54407400-54410200	Enhancers	Left Ventricle	heart
6	chr8:54408200-54410000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:54409200-54410200	Enhancers	Ovary	ovary
8	chr8:54409200-54411400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:54409400-54410000	Enhancers	Gastric	stomach
10	chr8:54409600-54415200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:54409600-54426600	Weak transcription	Stomach Smooth Muscle	stomach

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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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