Variant report

Variant	rs72742213
Chromosome Location	chr1:222979485-222979486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17162912	0.90[AMR][1000 genomes]
rs41477344	0.89[EUR][1000 genomes]
rs72742208	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72742209	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72742210	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72742211	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72742212	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72742215	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72742217	0.90[AFR][1000 genomes];0.93[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 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	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222978400-222979800	Enhancers	Stomach Mucosa	stomach
3	chr1:222978800-222979600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:222978800-222979800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:222978800-222979800	Enhancers	HepG2	liver
6	chr1:222978800-222979800	Enhancers	HMEC	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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