Variant report

Variant	rs7645425
Chromosome Location	chr3:48362369-48362370
allele	A/T
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	MAFK	chr3:48362331-48362427	HepG2	liver:	n/a	n/a
2	MAFK	chr3:48362333-48362398	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48357573..48359624-chr3:48361320..48363805,2	K562	blood:
2	chr3:48360167..48362786-chr3:48369269..48371387,2	MCF-7	breast:

Variant related genes	Relation type
MIR2115	TF binding region
ENSG00000229453	Chromatin interaction
ENSG00000252466	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1045482	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs11130162	0.81[EUR][1000 genomes]
rs11130163	0.81[EUR][1000 genomes]
rs11130164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134867	0.82[EUR][1000 genomes]
rs11706221	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706277	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707606	0.82[EUR][1000 genomes]
rs11707997	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709691	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11710257	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710861	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs11713476	0.87[EUR][1000 genomes]
rs11714176	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714944	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715776	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715799	0.89[EUR][1000 genomes]
rs11715876	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716371	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716848	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717716	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11718329	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs11718350	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719365	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11928691	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13059037	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13060020	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061269	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066044	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066758	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13067450	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13068265	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13068288	0.81[ASN][1000 genomes]
rs13069029	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070210	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071960	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072018	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13079728	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081169	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081633	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082158	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082859	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084616	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085251	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087929	0.82[EUR][1000 genomes]
rs13090538	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13094727	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13095983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097450	0.92[EUR][1000 genomes]
rs13100815	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17647717	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17786132	0.87[EUR][1000 genomes]
rs2125482	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361685	0.82[EUR][1000 genomes]
rs2541	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197223	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076262	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225441	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34523942	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589064	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630841	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34728236	0.90[EUR][1000 genomes]
rs34749846	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946886	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190747	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297395	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297486	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411187	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414021	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35456569	0.87[EUR][1000 genomes]
rs35778847	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35802497	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35944878	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36020562	0.90[EUR][1000 genomes]
rs36064160	0.81[EUR][1000 genomes]
rs36075665	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36092070	0.94[EUR][1000 genomes]
rs36121690	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729577	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs3731487	0.82[EUR][1000 genomes]
rs3731489	0.82[EUR][1000 genomes]
rs3731497	0.82[EUR][1000 genomes]
rs3731513	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs3731515	0.82[EUR][1000 genomes]
rs3731534	0.81[EUR][1000 genomes]
rs3731550	0.81[EUR][1000 genomes]
rs3731555	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs3937	0.95[CEU][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4130522	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130995	0.83[EUR][1000 genomes]
rs4131361	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131362	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4371540	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392440	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4404473	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4420898	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479622	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4511915	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511916	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541431	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619808	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632568	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442110	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6442111	0.95[CEU][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6775179	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782166	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787500	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs6791930	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793239	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794644	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6796343	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6796490	0.84[CEU][hapmap]
rs6800492	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6801801	0.95[CEU][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6804986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806112	0.81[CEU][hapmap]
rs71323391	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71323394	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71323395	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323396	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323397	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs745116	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs7614532	0.93[EUR][1000 genomes]
rs7619865	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7621785	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624450	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632297	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636461	0.92[EUR][1000 genomes]
rs7644414	0.82[EUR][1000 genomes]
rs7647817	0.82[EUR][1000 genomes]
rs7648720	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7652233	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653152	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653336	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311421	0.91[CEU][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs936426	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs936427	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9818937	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9819094	0.95[CEU][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9825637	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830016	0.95[CEU][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831531	0.82[EUR][1000 genomes]
rs9833309	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9834095	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9837228	0.95[CEU][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9846818	0.84[EUR][1000 genomes]
rs9847953	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9850672	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs9853804	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs7645425	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs7645425	ZNF589	cis	Stomach	GTEx
rs7645425	ZNF589	cis	Adipose Subcutaneous	GTEx
rs7645425	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs7645425	ZNF589	cis	Cerebellum	GTEx
rs7645425	NME6	cis	Muscle Skeletal	GTEx
rs7645425	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs7645425	ZNF589	cis	Artery Tibial	GTEx
rs7645425	CDC25A	cis	Muscle Skeletal	GTEx
rs7645425	MRPS18AP1	cis	lung	GTEx
rs7645425	ZNF589	cis	Thyroid	GTEx
rs7645425	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs7645425	MRPS18AP1	cis	Stomach	GTEx
rs7645425	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs7645425	MRPS18AP1	cis	Artery Aorta	GTEx
rs7645425	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs7645425	MRPS18AP1	cis	Thyroid	GTEx
rs7645425	ZNF589	cis	Brain Pons	GTEx
rs7645425	ZNF589	cis	Nerve Tibial	GTEx
rs7645425	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7645425	ZNF589	cis	Esophagus Mucosa	GTEx
rs7645425	ZNF589	cis	Artery Aorta	GTEx
rs7645425	NME6	cis	Artery Tibial	GTEx
rs7645425	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs7645425	ZNF589	cis	lung	GTEx
rs7645425	CDC25A	cis	Adipose Subcutaneous	GTEx
rs7645425	NME6	cis	Nerve Tibial	GTEx
rs7645425	CDC25A	cis	Artery Tibial	GTEx
rs7645425	MRPS18AP1	cis	Artery Tibial	GTEx
rs7645425	NME6	cis	multi-tissue	Pritchard
rs7645425	FCF1P2	cis	Artery Tibial	GTEx
rs7645425	NME6	cis	Esophagus Muscularis	GTEx
rs7645425	CDC25A	cis	Thyroid	GTEx
rs7645425	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs7645425	MRPS18AP1	cis	Nerve Tibial	GTEx
rs7645425	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs7645425	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs7645425	ZNF589	cis	Esophagus Muscularis	GTEx
rs7645425	SPINK8	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48361000-48362400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48361200-48362600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:48362000-48362800	Enhancers	Primary T cells from cord blood	blood
4	chr3:48362000-48363000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr3:48362200-48362600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:48362200-48362600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:48362200-48362600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:48362200-48362600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:48362200-48362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:48362200-48362800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:48362200-48362800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr3:48362200-48362800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:48362200-48362800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:48362200-48362800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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