Variant report

Variant	rs249070
Chromosome Location	chr5:59851527-59851528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10939855	0.88[EUR][1000 genomes]
rs10939856	0.90[EUR][1000 genomes]
rs11739724	0.96[ASN][1000 genomes]
rs11740327	0.81[ASN][1000 genomes]
rs11745627	0.82[ASN][1000 genomes]
rs11747927	0.85[ASN][1000 genomes]
rs11948543	0.87[ASN][1000 genomes]
rs11951503	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11951950	0.93[ASN][1000 genomes]
rs11952735	0.90[ASN][1000 genomes]
rs11956023	0.85[ASN][1000 genomes]
rs11959922	0.89[ASN][1000 genomes]
rs1379116	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1379117	0.88[ASN][1000 genomes]
rs153152	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1562235	0.95[ASN][1000 genomes]
rs1867702	0.84[ASN][1000 genomes]
rs2061250	0.89[ASN][1000 genomes]
rs2198865	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248911	0.86[ASN][1000 genomes]
rs248912	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2591636	0.85[ASN][1000 genomes]
rs286153	0.87[ASN][1000 genomes]
rs286155	0.87[ASN][1000 genomes]
rs286156	0.84[ASN][1000 genomes]
rs286158	0.84[ASN][1000 genomes]
rs2898287	0.95[ASN][1000 genomes]
rs34417217	0.80[AMR][1000 genomes]
rs3857236	0.90[ASN][1000 genomes]
rs3958943	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4504343	0.89[EUR][1000 genomes]
rs4538566	0.89[EUR][1000 genomes]
rs4699959	0.85[ASN][1000 genomes]
rs4700378	0.94[ASN][1000 genomes]
rs4700379	0.93[ASN][1000 genomes]
rs4700380	0.89[ASN][1000 genomes]
rs4700381	0.81[ASN][1000 genomes]
rs5012862	0.89[ASN][1000 genomes]
rs55720622	0.80[ASN][1000 genomes]
rs55768631	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56137970	0.96[ASN][1000 genomes]
rs56166952	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56191602	0.87[ASN][1000 genomes]
rs56347749	0.90[EUR][1000 genomes]
rs59155887	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62372964	0.94[ASN][1000 genomes]
rs62373023	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6877561	0.84[ASN][1000 genomes]
rs6896942	0.91[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs249070	ERCC8	Cis_1M	lymphoblastoid	RTeQTL
rs249070	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59851400-59851600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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