Variant report

Variant	rs72820494
Chromosome Location	chr2:48658159-48658160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48657438..48659141-chr2:48667861..48669898,2	K562	blood:
2	chr2:48657438..48661343-chr2:48665972..48669898,5	K562	blood:

Variant related genes	Relation type
ENSG00000272663	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10208627	0.82[ASN][1000 genomes]
rs10211336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10454133	0.97[ASN][1000 genomes]
rs10454134	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11680719	1.00[ASN][1000 genomes]
rs11683639	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11689622	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12105983	0.82[ASN][1000 genomes]
rs13399936	0.99[ASN][1000 genomes]
rs13400909	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401749	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401752	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913553	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4274640	0.99[ASN][1000 genomes]
rs4316980	0.97[ASN][1000 genomes]
rs4438532	0.94[ASN][1000 genomes]
rs4494796	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547570	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4606978	0.95[ASN][1000 genomes]
rs4638844	0.92[ASN][1000 genomes]
rs55640438	0.94[ASN][1000 genomes]
rs55757090	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55971719	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56156294	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56365822	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58020097	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969359	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58978223	0.84[ASN][1000 genomes]
rs59045263	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60042255	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60825643	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60988618	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61303367	0.84[ASN][1000 genomes]
rs62137018	0.85[ASN][1000 genomes]
rs62137019	0.85[ASN][1000 genomes]
rs62137021	0.83[ASN][1000 genomes]
rs62137041	0.95[ASN][1000 genomes]
rs66705539	0.84[ASN][1000 genomes]
rs6732196	0.92[ASN][1000 genomes]
rs6735288	0.82[ASN][1000 genomes]
rs6747441	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6749773	0.86[ASN][1000 genomes]
rs72820454	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72820474	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72820479	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72820484	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72820492	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72820499	0.99[ASN][1000 genomes]
rs7565792	0.91[ASN][1000 genomes]
rs7568574	0.82[ASN][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72820494	PPP1R21	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48652000-48660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:48653600-48661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:48655800-48660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:48657400-48658400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:48657400-48659000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:48657600-48658200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:48657800-48658400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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