Variant report

Variant	rs248911
Chromosome Location	chr5:59847538-59847539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11739724	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11740327	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11745627	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11948543	0.88[EUR][1000 genomes]
rs11952735	0.86[EUR][1000 genomes]
rs11956023	0.84[EUR][1000 genomes]
rs11959922	0.88[EUR][1000 genomes]
rs1379117	0.86[EUR][1000 genomes]
rs153152	1.00[ASN][1000 genomes]
rs1562235	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1816899	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2061250	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs248912	1.00[ASN][1000 genomes]
rs249070	0.86[ASN][1000 genomes]
rs27564	0.84[ASN][1000 genomes]
rs2898287	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3857236	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3958943	0.81[ASN][1000 genomes]
rs4700378	0.80[ASN][1000 genomes]
rs4700380	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55720622	0.86[EUR][1000 genomes]
rs55768631	0.81[ASN][1000 genomes]
rs56137970	0.82[ASN][1000 genomes]
rs56191602	0.84[EUR][1000 genomes]
rs62372964	0.80[ASN][1000 genomes]
rs62373024	0.86[EUR][1000 genomes]
rs62373025	0.85[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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs248911	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59847200-59848000	Enhancers	Stomach Smooth Muscle	stomach
2	chr5:59847200-59848200	Enhancers	Rectal Smooth Muscle	rectum

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