Variant report

Variant	rs4700378
Chromosome Location	chr5:59871560-59871561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11739724	0.93[ASN][1000 genomes]
rs11747927	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11948543	0.84[ASN][1000 genomes]
rs11951503	0.84[ASN][1000 genomes]
rs11951950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11952735	0.84[ASN][1000 genomes]
rs11959922	0.83[ASN][1000 genomes]
rs1379116	0.82[ASN][1000 genomes]
rs1379117	0.82[ASN][1000 genomes]
rs1445852	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs153152	0.80[ASN][1000 genomes]
rs1562235	0.91[ASN][1000 genomes]
rs1867702	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2061250	0.85[ASN][1000 genomes]
rs2198865	0.81[ASN][1000 genomes]
rs248911	0.80[ASN][1000 genomes]
rs248912	0.80[ASN][1000 genomes]
rs249070	0.94[ASN][1000 genomes]
rs2591636	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs286148	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs286153	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs286154	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs286155	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs286156	0.81[ASN][1000 genomes]
rs286158	0.81[ASN][1000 genomes]
rs2898287	0.91[ASN][1000 genomes]
rs3857236	0.87[ASN][1000 genomes]
rs3958943	0.91[ASN][1000 genomes]
rs4538567	0.81[EUR][1000 genomes]
rs4699959	0.84[ASN][1000 genomes]
rs4700379	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700380	0.85[ASN][1000 genomes]
rs4700381	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5012862	0.88[ASN][1000 genomes]
rs55768631	0.91[ASN][1000 genomes]
rs56137970	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56166952	0.87[ASN][1000 genomes]
rs56191602	0.81[ASN][1000 genomes]
rs62372964	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6877561	0.81[ASN][1000 genomes]
rs6896942	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4700378	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59864800-59872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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