Variant report

Variant	rs2607113
Chromosome Location	chr15:51950683-51950684
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11070850	0.81[EUR][1000 genomes]
rs11855041	0.88[EUR][1000 genomes]
rs12592390	0.89[EUR][1000 genomes]
rs12592422	0.89[EUR][1000 genomes]
rs12908028	0.90[EUR][1000 genomes]
rs17704742	0.87[EUR][1000 genomes]
rs1869930	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1902594	0.94[ASN][1000 genomes]
rs2124591	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2414104	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2414108	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2607111	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607118	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2622767	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2622773	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2622774	0.92[ASN][1000 genomes]
rs28362471	0.86[EUR][1000 genomes]
rs34604744	0.86[EUR][1000 genomes]
rs4359386	0.87[EUR][1000 genomes]
rs4436729	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4462536	0.87[EUR][1000 genomes]
rs4775945	0.87[EUR][1000 genomes]
rs4775950	0.86[EUR][1000 genomes]
rs4775967	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6493502	0.87[EUR][1000 genomes]
rs6493504	0.87[EUR][1000 genomes]
rs7164999	0.84[EUR][1000 genomes]
rs7176988	0.87[EUR][1000 genomes]
rs8024233	0.86[EUR][1000 genomes]
rs8025536	0.87[EUR][1000 genomes]
rs8030113	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8034340	0.87[EUR][1000 genomes]
rs930919	0.81[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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2607113	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51950600-51951400	Enhancers	Primary monocytes fromperipheralblood	blood

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