Variant report

Variant	rs594724
Chromosome Location	chr3:120704853-120704854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10212452	0.90[ASN][1000 genomes]
rs13318249	0.87[ASN][1000 genomes]
rs1518597	0.87[ASN][1000 genomes]
rs1624360	0.99[ASN][1000 genomes]
rs1625047	0.98[ASN][1000 genomes]
rs16832125	0.82[ASN][1000 genomes]
rs1688686	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795412	0.88[ASN][1000 genomes]
rs1920547	0.84[ASN][1000 genomes]
rs2331525	0.84[ASN][1000 genomes]
rs2331528	0.86[ASN][1000 genomes]
rs2331538	0.87[ASN][1000 genomes]
rs2331539	0.88[ASN][1000 genomes]
rs2331641	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3845850	0.84[ASN][1000 genomes]
rs3845852	0.87[ASN][1000 genomes]
rs3908117	0.87[ASN][1000 genomes]
rs3914737	0.89[ASN][1000 genomes]
rs3934093	0.84[ASN][1000 genomes]
rs4048825	0.85[ASN][1000 genomes]
rs4524222	0.84[ASN][1000 genomes]
rs470412	0.94[ASN][1000 genomes]
rs470484	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs470537	0.91[ASN][1000 genomes]
rs470931	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.92[ASN][1000 genomes]
rs470990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs471031	0.94[ASN][1000 genomes]
rs487657	0.92[ASN][1000 genomes]
rs594838	0.97[ASN][1000 genomes]
rs61797910	0.97[ASN][1000 genomes]
rs628329	0.96[ASN][1000 genomes]
rs636571	0.97[ASN][1000 genomes]
rs638589	0.99[ASN][1000 genomes]
rs6438601	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs657578	0.97[ASN][1000 genomes]
rs664770	0.96[ASN][1000 genomes]
rs6773281	0.85[ASN][1000 genomes]
rs6776790	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7637100	0.89[ASN][1000 genomes]
rs7648200	0.90[ASN][1000 genomes]
rs7648612	0.90[ASN][1000 genomes]
rs954569	0.98[ASN][1000 genomes]
rs9815058	0.85[ASN][1000 genomes]
rs9853679	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9882608	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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 miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3391166	chr3:120665311-120730822	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3523329	chr3:120665311-120748492	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
7	esv3523331	chr3:120665311-120748492	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv1005275	chr3:120700604-121102735	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs594724	UMPS	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120703000-120705000	Weak transcription	Ovary	ovary

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