Variant report

Variant	rs73123517
Chromosome Location	chr4:22619232-22619233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16898705	0.81[ASN][1000 genomes]
rs16898716	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1963526	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4697326	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4697328	0.81[ASN][1000 genomes]
rs4697329	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4697330	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4697331	0.85[ASN][1000 genomes]
rs59691702	0.85[ASN][1000 genomes]
rs59813266	0.89[EUR][1000 genomes]
rs60103565	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7694334	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1007053	chr4:22573534-22658117	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:22618600-22620000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:22618800-22620000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:22618800-22620000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:22618800-22625600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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