Variant report

Variant	rs72854462
Chromosome Location	chr2:145720139-145720140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10928235	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11674165	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11680871	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11682379	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11684042	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12151653	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13010313	0.88[ASN][1000 genomes]
rs1371044	0.88[EUR][1000 genomes]
rs1438898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17407658	0.90[ASN][1000 genomes]
rs17479393	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34948552	0.88[ASN][1000 genomes]
rs55944332	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58117425	0.87[EUR][1000 genomes]
rs72854415	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72854416	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72854449	0.88[ASN][1000 genomes]
rs72854464	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9646682	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145710000-145722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145719600-145720600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:145720000-145720600	Enhancers	H9 Derived Neuronal Progenitor 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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