Variant report

Variant	rs12646232
Chromosome Location	chr4:18579644-18579645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12507937	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12507985	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12645896	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12648980	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4521343	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6812499	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6828694	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73250405	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73250408	0.97[AMR][1000 genomes];0.90[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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18574400-18579800	Weak transcription	HepG2	liver
2	chr4:18579000-18579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:18579000-18580800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:18579600-18579800	Active TSS	Breast Myoepithelial Primary Cells	Breast

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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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