Variant report

Variant	rs13123519
Chromosome Location	chr4:18393825-18393826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11722560	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12649934	0.90[EUR][1000 genomes]
rs13114003	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127182	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1506041	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845069	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917924	0.91[EUR][1000 genomes];1.00[ASN][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	nsv1003931	chr4:18241575-18849898	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18389200-18394200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:18389400-18394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:18391600-18404800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:18392400-18394000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:18393400-18403000	Weak transcription	Small Intestine	intestine
6	chr4:18393800-18394200	Enhancers	hESC Derived CD56+ Ectoderm 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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