Variant report

Variant	rs1459243
Chromosome Location	chr3:48406646-48406647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12630599	0.90[EUR][1000 genomes]
rs1380260	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1459244	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1459245	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1459247	0.95[EUR][1000 genomes]
rs17080119	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1870441	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34138269	1.00[EUR][1000 genomes]
rs34537842	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34857497	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858813	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858814	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs876597	0.95[EUR][1000 genomes]
rs986739	0.95[EUR][1000 genomes]
rs986740	0.95[EUR][1000 genomes]
rs986741	0.95[EUR][1000 genomes]
rs986742	1.00[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	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48404800-48408800	Weak transcription	ES-UCSF4 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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