Variant report

Variant	rs2125714
Chromosome Location	chr5:100682403-100682404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10041018	0.81[EUR][1000 genomes]
rs10043033	0.81[EUR][1000 genomes]
rs10043874	0.84[EUR][1000 genomes]
rs10044820	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052707	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10063903	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10072890	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10074812	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074814	0.87[EUR][1000 genomes]
rs10076351	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10080017	0.91[EUR][1000 genomes]
rs1037792	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10477689	0.82[EUR][1000 genomes]
rs10477696	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1158113	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12513973	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12519280	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12519607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521794	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12521888	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12522389	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13354178	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13354196	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13355008	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13358232	0.81[EUR][1000 genomes]
rs13360799	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13362183	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1352745	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1352746	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1352747	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1380392	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1380398	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1380399	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1388202	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1459571	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1459578	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1459579	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1459587	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1459588	0.91[EUR][1000 genomes]
rs1459589	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1459590	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1459591	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1542456	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17134979	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135177	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17135179	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17135180	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135187	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17839479	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28552573	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs433612	0.86[EUR][1000 genomes]
rs57720420	0.81[EUR][1000 genomes]
rs57727638	0.81[EUR][1000 genomes]
rs60396950	0.80[EUR][1000 genomes]
rs6595881	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868173	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6868195	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6887156	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6896184	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72782850	0.88[EUR][1000 genomes]
rs72782893	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73170058	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7716543	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs898289	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs898290	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs898291	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs898292	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs898297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327486	0.84[EUR][1000 genomes]
rs9327488	0.84[EUR][1000 genomes]
rs9654535	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv462320	chr5:100247554-100775607	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv599176	chr5:100247554-100775607	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv528811	chr5:100424081-101218087	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1032191	chr5:100455166-100852106	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv516292	chr5:100490972-100925684	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2758007	chr5:100507726-100760722	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2759360	chr5:100507726-100760722	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv882479	chr5:100587626-100941372	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv882481	chr5:100599227-100759281	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv599179	chr5:100609923-100826324	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv882485	chr5:100619084-100752325	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv882486	chr5:100621879-100682403	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2753518	chr5:100633738-100756873	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2755981	chr5:100633738-100830395	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv882489	chr5:100640721-100710312	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv882490	chr5:100640721-100826324	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2125714	NUDT12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100676600-100683200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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