Variant report

Variant	rs12126314
Chromosome Location	chr1:45457681-45457682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45457586-45457761	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45452472..45454113-chr1:45457671..45459951,2	K562	blood:
2	chr1:45452234..45453881-chr1:45454230..45457935,4	K562	blood:
3	chr1:45455788..45461421-chr1:45474837..45478788,5	MCF-7	breast:
4	chr1:45283976..45287622-chr1:45450715..45458034,11	K562	blood:

Variant related genes	Relation type
ENSG00000232369	TF binding region
MRPS17P1	TF binding region
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000070785	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10749854	0.83[AMR][1000 genomes]
rs10890316	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211036	0.84[JPT][hapmap]
rs11211038	0.82[JPT][hapmap]
rs11211040	0.84[JPT][hapmap]
rs11211053	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs11211059	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211060	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211066	0.84[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs11211067	0.85[CEU][hapmap];0.84[AMR][1000 genomes]
rs11556200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11576875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586398	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11588468	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802780	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11806079	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11809982	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs11811656	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12070692	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082902	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12117191	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12117432	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12122911	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12122946	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12125367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12126318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127012	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12127100	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127262	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12133015	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12134146	0.83[AMR][1000 genomes]
rs12139143	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12142881	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12144152	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1226360	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1226361	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12724852	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12725055	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731245	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs12732402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12733586	0.89[JPT][hapmap]
rs12735637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12738406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12738542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12738586	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12740561	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12742371	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12749130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12749939	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs12750107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12758547	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13948	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs17393404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17883049	0.84[JPT][hapmap]
rs183809	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2133503	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236576	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs2275598	0.83[AMR][1000 genomes]
rs2275599	0.83[AMR][1000 genomes]
rs2295997	0.81[JPT][hapmap]
rs2487367	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263988	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263989	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263991	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263992	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs263994	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs263997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264020	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264021	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs264022	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264023	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264024	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264025	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28409260	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs364482	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs3795719	0.84[JPT][hapmap]
rs3806405	0.84[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs4399199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544144	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs566063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56875328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6429550	0.89[JPT][hapmap]
rs656780	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6659033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6678726	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs6678762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6678769	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6692487	0.89[JPT][hapmap]
rs6692713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703452	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs67863058	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68175913	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7514998	0.84[AMR][1000 genomes]
rs7517439	0.89[JPT][hapmap]
rs7517639	0.89[JPT][hapmap]
rs7519454	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7521339	0.81[EUR][1000 genomes]
rs7525733	0.84[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs7535347	0.84[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7541207	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs7541351	0.85[CEU][hapmap]
rs7553658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8681	0.84[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs998418	0.84[CEU][hapmap];0.84[AMR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12126314	UROD	cis	Thyroid	GTEx
rs12126314	UROD	cis	Adipose Subcutaneous	GTEx
rs12126314	UROD	cis	Nerve Tibial	GTEx
rs12126314	UROD	cis	Esophagus Muscularis	GTEx
rs12126314	UROD	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45452800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:45452800-45467800	Weak transcription	Osteobl	bone
3	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
4	chr1:45454600-45467800	Weak transcription	K562	blood
5	chr1:45457400-45457800	Enhancers	HepG2	liver

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