Variant report

Variant	rs72970421
Chromosome Location	chr4:152976270-152976271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16998854	0.87[AFR][1000 genomes]
rs17028519	1.00[AMR][1000 genomes]
rs17028523	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17028527	1.00[AMR][1000 genomes]
rs17028532	1.00[AMR][1000 genomes]
rs17028534	1.00[AMR][1000 genomes]
rs55951057	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56308140	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347809	1.00[AMR][1000 genomes]
rs56364547	1.00[AMR][1000 genomes]
rs60062078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60708822	1.00[AMR][1000 genomes]
rs60726234	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61149531	1.00[AMR][1000 genomes]
rs61374994	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61563040	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968641	1.00[AMR][1000 genomes]
rs72968645	1.00[AMR][1000 genomes]
rs72970442	0.87[AFR][1000 genomes]
rs72970444	0.87[AFR][1000 genomes]
rs72970445	0.87[AFR][1000 genomes]
rs72970453	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970454	1.00[AMR][1000 genomes]
rs72970456	1.00[AMR][1000 genomes]
rs72970457	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970464	1.00[AMR][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152967600-152977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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