Variant report

Variant	rs72975002
Chromosome Location	chr3:54042809-54042810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28385736	1.00[EUR][1000 genomes]
rs4358292	1.00[EUR][1000 genomes]
rs4364155	1.00[EUR][1000 genomes]
rs4687764	1.00[EUR][1000 genomes]
rs55940822	1.00[EUR][1000 genomes]
rs55971211	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59150035	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59801519	0.89[AMR][1000 genomes]
rs60408413	1.00[EUR][1000 genomes]
rs61026534	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445623	1.00[EUR][1000 genomes]
rs6797145	1.00[EUR][1000 genomes]
rs72974991	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72976731	1.00[EUR][1000 genomes]
rs72976732	1.00[EUR][1000 genomes]
rs73841260	1.00[EUR][1000 genomes]
rs7613083	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7623521	1.00[EUR][1000 genomes]
rs7645392	0.89[AMR][1000 genomes]
rs7650910	1.00[EUR][1000 genomes]
rs9812910	1.00[EUR][1000 genomes]
rs9863533	1.00[EUR][1000 genomes]
rs9864400	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1005411	chr3:53927782-54158638	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54042000-54043000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr3:54042000-54043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:54042000-54043800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:54042000-54050000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:54042200-54043000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:54042200-54043000	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:54042200-54043200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:54042200-54043200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:54042200-54043400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:54042600-54043200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:54042600-54043200	Enhancers	Placenta	Placenta
12	chr3:54042600-54043400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:54042800-54043200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:54042800-54043200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:54042800-54043400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:54042800-54043400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:54042800-54043800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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