Variant report

Variant	rs56393119
Chromosome Location	chr4:31053532-31053533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13120823	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13147117	0.81[EUR][1000 genomes]
rs2307	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28571043	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34189753	0.81[EUR][1000 genomes]
rs55707833	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59848134	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6847526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847757	0.81[EUR][1000 genomes]
rs73812504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73812506	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73812507	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73812508	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73812512	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73812515	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73812516	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73815167	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31050200-31057600	Weak transcription	Aorta	Aorta
2	chr4:31052400-31054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:31052400-31054600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:31052800-31054000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:31052800-31054000	Enhancers	HUVEC	blood vessel
6	chr4:31052800-31054200	Enhancers	Fetal Heart	heart
7	chr4:31053400-31053600	Weak transcription	Colon Smooth Muscle	Colon

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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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