Variant report

Variant	rs17250784
Chromosome Location	chr5:44296884-44296885
allele	A/G
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:15)

rs_ID	r²[population]
rs17228283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17234268	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17234541	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56107445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72761383	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761384	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763179	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763180	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763181	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763190	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763201	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72764708	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1019047	chr5:43939693-44301657	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44293200-44305000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:44296600-44297200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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