Variant report

Variant	rs72752582
Chromosome Location	chr5:43208743-43208744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10045186	0.94[EUR][1000 genomes]
rs10045460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056788	0.94[EUR][1000 genomes]
rs10062177	0.83[EUR][1000 genomes]
rs10066481	0.94[EUR][1000 genomes]
rs10473304	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10473305	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10512819	0.94[EUR][1000 genomes]
rs13356344	0.94[EUR][1000 genomes]
rs16873170	0.94[EUR][1000 genomes]
rs28394528	0.94[EUR][1000 genomes]
rs28600138	1.00[EUR][1000 genomes]
rs28697178	0.94[EUR][1000 genomes]
rs4421113	0.94[EUR][1000 genomes]
rs4428421	0.83[EUR][1000 genomes]
rs55799546	0.94[EUR][1000 genomes]
rs58488720	0.94[EUR][1000 genomes]
rs6867229	0.88[EUR][1000 genomes]
rs6868632	0.94[EUR][1000 genomes]
rs6885598	0.94[EUR][1000 genomes]
rs6887169	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72752598	0.80[AMR][1000 genomes]
rs72752601	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73751045	0.94[EUR][1000 genomes]
rs73751047	0.94[EUR][1000 genomes]
rs7701546	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709926	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292866	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:43198600-43208800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:43203600-43208800	Weak transcription	K562	blood
10	chr5:43205200-43211000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:43205600-43215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:43207200-43209000	Enhancers	NHDF-Ad	bronchial
13	chr5:43207200-43209600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:43207400-43209600	Enhancers	NHLF	lung
15	chr5:43207600-43209400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:43207600-43209400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:43207600-43209600	Enhancers	HSMMtube	muscle
18	chr5:43207800-43209000	Enhancers	Osteobl	bone
19	chr5:43207800-43209200	Enhancers	NHEK	skin
20	chr5:43207800-43209400	Enhancers	HMEC	breast
21	chr5:43208000-43209000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:43208000-43209400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:43208000-43214200	Enhancers	Placenta	Placenta
24	chr5:43208400-43208800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:43208600-43209400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:43208600-43210200	Enhancers	Stomach Mucosa	stomach

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