Variant report

Variant	rs59608701
Chromosome Location	chr12:48319747-48319748
allele	A/G
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]
rs11168301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168322	0.96[AFR][1000 genomes]
rs11574003	1.00[AMR][1000 genomes]
rs12313409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314051	0.81[AFR][1000 genomes]
rs12318019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59128492	0.80[AFR][1000 genomes]
rs60757377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295130	0.81[AFR][1000 genomes]
rs73295132	0.81[AFR][1000 genomes]
rs73295134	0.81[AFR][1000 genomes]
rs73295162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086589	1.00[AFR][1000 genomes];1.00[AMR][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr12:48318800-48323000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:48319400-48320000	Bivalent Enhancer	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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