Variant report

Variant	rs72726078
Chromosome Location	chr5:5353202-5353203
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11134112	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11134113	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11134114	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11743860	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11745458	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11745463	0.87[EUR][1000 genomes]
rs11748854	0.87[EUR][1000 genomes]
rs11750848	0.88[EUR][1000 genomes]
rs13172631	0.89[EUR][1000 genomes]
rs16875467	0.89[EUR][1000 genomes]
rs16875480	0.88[EUR][1000 genomes]
rs16875486	0.88[EUR][1000 genomes]
rs16875493	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16875502	0.86[EUR][1000 genomes]
rs17821528	1.00[AFR][1000 genomes]
rs3935571	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41418444	0.88[EUR][1000 genomes]
rs55758531	0.89[EUR][1000 genomes]
rs55930845	0.89[EUR][1000 genomes]
rs55986458	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56024322	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57657417	0.86[EUR][1000 genomes]
rs66478976	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66550117	0.88[EUR][1000 genomes]
rs66706717	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67531547	0.88[EUR][1000 genomes]
rs67745304	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67790736	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67969635	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72726093	0.88[EUR][1000 genomes]
rs72726095	0.96[AMR][1000 genomes];0.96[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5345000-5354800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:5345200-5355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:5348600-5353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:5352000-5356800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:5352200-5354000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:5352200-5354000	Weak transcription	HSMM	muscle
7	chr5:5352600-5362200	Weak transcription	Hela-S3	cervix
8	chr5:5353000-5358200	Weak transcription	Pancreas	Pancrea
9	chr5:5353200-5353400	Weak transcription	K562	blood
10	chr5:5353200-5354000	Weak transcription	HepG2	liver
11	chr5:5353200-5354400	Weak transcription	Fetal Kidney	kidney
12	chr5:5353200-5355600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5353200-5360200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:5353200-5361400	Weak transcription	H1 Derived Mesenchymal Stem 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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