Variant report

Variant	rs72970445
Chromosome Location	chr4:152983430-152983431
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16998854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028519	0.86[AFR][1000 genomes]
rs17028523	0.89[AFR][1000 genomes]
rs17028527	0.86[AFR][1000 genomes]
rs17028529	0.83[AMR][1000 genomes]
rs17028532	0.82[AFR][1000 genomes]
rs17028534	0.82[AFR][1000 genomes]
rs17028536	0.83[AMR][1000 genomes]
rs17028537	0.83[AMR][1000 genomes]
rs17028543	0.83[AMR][1000 genomes]
rs55951057	0.89[AFR][1000 genomes]
rs56178482	0.83[AMR][1000 genomes]
rs56308140	0.93[AFR][1000 genomes]
rs56319636	0.95[EUR][1000 genomes]
rs56347809	0.87[AFR][1000 genomes]
rs56364547	0.82[AFR][1000 genomes]
rs56373397	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57279473	0.83[AMR][1000 genomes]
rs58364558	0.83[AMR][1000 genomes]
rs60062078	0.98[AFR][1000 genomes]
rs60708822	0.80[AFR][1000 genomes]
rs60726234	0.98[AFR][1000 genomes]
rs61149531	0.80[AFR][1000 genomes]
rs61374994	0.98[AFR][1000 genomes]
rs61396838	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61563040	0.98[AFR][1000 genomes]
rs66776773	0.83[AMR][1000 genomes]
rs67298257	0.83[AMR][1000 genomes]
rs67947413	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72734217	0.83[AMR][1000 genomes]
rs72970421	0.87[AFR][1000 genomes]
rs72970442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970453	0.89[AFR][1000 genomes]
rs72970454	0.80[AFR][1000 genomes]
rs72970456	0.80[AFR][1000 genomes]
rs72970457	0.89[AFR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152978800-152985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:152981200-152984800	Weak transcription	Fetal Heart	heart
3	chr4:152981200-152985400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:152983000-152984200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:152983200-152983800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:152983200-152983800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:152983200-152983800	Weak transcription	Fetal Thymus	thymus
8	chr4:152983200-152985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:152983400-152983600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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