Variant report

Variant	rs12738542
Chromosome Location	chr1:45453165-45453166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:45453145-45453177	K562	blood:	n/a	n/a
2	E2F6	chr1:45451928-45453221	K562	blood:	n/a	chr1:45452284-45452293 chr1:45452392-45452403 chr1:45452413-45452422
3	POLR2A	chr1:45453077-45453199	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:45451565-45453424	K562	blood:	n/a	n/a
5	UBTF	chr1:45451411-45453477	K562	blood:	n/a	n/a
6	HEY1	chr1:45452952-45453366	K562	blood:	n/a	n/a
7	RCOR1	chr1:45453093-45453293	K562	blood:	n/a	n/a
8	EGR1	chr1:45452922-45453224	K562	blood:	n/a	n/a
9	JUND	chr1:45453148-45453188	K562	blood:	n/a	n/a
10	YY1	chr1:45452930-45453311	K562	blood:	n/a	n/a
11	MAZ	chr1:45453147-45453187	K562	blood:	n/a	n/a
12	POLR2A	chr1:45452930-45453355	K562	blood:	n/a	n/a
13	MAX	chr1:45452913-45453304	K562	blood:	n/a	n/a
14	YY1	chr1:45452943-45453241	K562	blood:	n/a	n/a
15	ELF1	chr1:45452907-45453183	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45452263..45453960-chr1:45454277..45456496,2	K562	blood:
2	chr1:45451325..45453836-chr1:45473269..45474967,2	MCF-7	breast:
3	chr1:45451300..45453679-chr1:45476530..45479236,3	MCF-7	breast:
4	chr1:45284581..45287931-chr1:45452240..45453906,3	MCF-7	breast:
5	chr1:45186235..45188904-chr1:45452213..45453975,2	K562	blood:
6	chr1:45194988..45198272-chr1:45451491..45453905,3	K562	blood:
7	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:
8	chr1:45452472..45454113-chr1:45457671..45459951,2	K562	blood:
9	chr1:45452234..45453881-chr1:45454230..45457935,4	K562	blood:
10	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
11	chr1:45283976..45287622-chr1:45450715..45458034,11	K562	blood:
12	chr1:45240606..45242978-chr1:45452437..45454075,2	K562	blood:
13	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
14	chr1:45273964..45275771-chr1:45451640..45453619,2	K562	blood:

No data

Variant related genes	Relation type
EIF2B3	TF binding region
ENSG00000200169	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000232369	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000268949	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:109)

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];0.99[ASN][1000 genomes]
rs10890317	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211036	0.84[JPT][hapmap]
rs11211038	0.82[JPT][hapmap]
rs11211040	0.83[JPT][hapmap]
rs11211053	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs11211059	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211060	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211066	0.83[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs11211067	0.84[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];1.00[ASN][1000 genomes]
rs11576875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586398	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11588468	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11802780	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806079	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809982	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs11811656	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12070692	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082902	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12117191	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12117432	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12122911	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122946	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12125188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12126314	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]
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];0.99[ASN][1000 genomes]
rs12127012	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12127100	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127262	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133015	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12134146	0.83[AMR][1000 genomes]
rs12139143	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs12142881	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12144152	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1226360	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1226361	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12724852	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12725055	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12731245	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs12732402	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.92[ASN][1000 genomes]
rs12738406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738586	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12740561	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742371	0.97[EUR][1000 genomes];0.91[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];1.00[ASN][1000 genomes]
rs12749939	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs12750107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12755554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12758547	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13948	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs17393404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17883049	0.83[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];0.94[ASN][1000 genomes]
rs2133503	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236576	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs2275598	0.83[AMR][1000 genomes]
rs2275599	0.83[AMR][1000 genomes]
rs2487367	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263988	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263989	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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];0.94[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];0.92[ASN][1000 genomes]
rs263994	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264020	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264021	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs264022	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264023	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264024	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264025	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28409260	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs364482	0.89[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs3795719	0.84[JPT][hapmap]
rs3806405	0.83[CEU][hapmap];0.83[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];0.99[ASN][1000 genomes]
rs544144	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs566063	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56875328	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6429550	0.89[JPT][hapmap]
rs656780	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6659033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678726	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs6678762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678769	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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];0.99[ASN][1000 genomes]
rs6703452	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs67863058	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68175913	0.95[EUR][1000 genomes];0.92[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];0.98[ASN][1000 genomes]
rs7521339	0.81[EUR][1000 genomes]
rs7525733	0.83[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs7535347	0.83[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7541207	0.83[CEU][hapmap];0.83[CHB][hapmap]
rs7541351	0.84[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];1.00[ASN][1000 genomes]
rs8681	0.83[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes]
rs998418	0.83[CEU][hapmap];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv945915	chr1:45452240-45455734	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12738542	UROD	cis	Nerve Tibial	GTEx
rs12738542	UROD	cis	Esophagus Muscularis	GTEx
rs12738542	UROD	cis	Thyroid	GTEx
rs12738542	UROD	cis	Artery Tibial	GTEx
rs12738542	UROD	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45451000-45453200	Active TSS	A549	lung
2	chr1:45452400-45453200	Flanking Active TSS	Dnd41	blood
3	chr1:45452600-45453200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:45452600-45453200	Flanking Active TSS	Placenta	Placenta
5	chr1:45452800-45453200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:45452800-45453400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:45452800-45453400	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:45452800-45457400	Weak transcription	HepG2	liver
9	chr1:45452800-45466600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:45452800-45467800	Weak transcription	Osteobl	bone
11	chr1:45452800-45475200	Weak transcription	Right Atrium	heart
12	chr1:45453000-45453400	Flanking Active TSS	K562	blood

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