Variant report

Variant	rs35778847
Chromosome Location	chr3:48346985-48346986
allele	G/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	BHLHE40	chr3:48346973-48347076	K562	blood:	n/a	n/a
2	FOS	chr3:48346976-48347413	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:48346958-48347359	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr3:48346922-48347205	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48340888..48344542-chr3:48346150..48350043,6	K562	blood:
2	chr3:48346410..48349156-chr3:48368975..48371534,3	MCF-7	breast:
3	chr3:48340204..48344663-chr3:48345838..48350197,8	K562	blood:

Variant related genes	Relation type
NME6	TF binding region
ENSG00000229453	Chromatin interaction
ENSG00000172113	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 37 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1045482	0.83[EUR][1000 genomes]
rs11130162	0.83[EUR][1000 genomes]
rs11130163	0.83[EUR][1000 genomes]
rs11130164	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1134867	0.84[EUR][1000 genomes]
rs11706221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11706277	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11707606	0.84[EUR][1000 genomes]
rs11707997	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11709691	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11710257	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11710861	0.97[EUR][1000 genomes]
rs11713476	0.85[EUR][1000 genomes]
rs11714176	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11714944	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11715776	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11715799	0.92[EUR][1000 genomes]
rs11715876	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716371	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11717716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11718329	0.97[EUR][1000 genomes]
rs11718350	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719365	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11928691	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13059037	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13060020	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13061269	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13066044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13066758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13067450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13068265	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13068288	0.81[EUR][1000 genomes]
rs13069029	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13070210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13071960	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13072018	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13079728	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13081169	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13081633	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082158	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13082859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13084616	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13085251	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13087929	0.84[EUR][1000 genomes]
rs13090538	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13094727	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13095983	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13097450	0.94[EUR][1000 genomes]
rs13100815	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17647717	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17786132	0.89[EUR][1000 genomes]
rs2125482	0.97[EUR][1000 genomes]
rs2361685	0.84[EUR][1000 genomes]
rs2541	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3197223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34076262	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34225441	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34523942	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34589064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34630841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34728236	0.93[EUR][1000 genomes]
rs34749846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34946886	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35190747	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35297395	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35297486	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35411187	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35414021	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35456569	0.89[EUR][1000 genomes]
rs35802497	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35944878	0.99[EUR][1000 genomes]
rs36020562	0.92[EUR][1000 genomes]
rs36064160	0.84[EUR][1000 genomes]
rs36075665	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36092070	0.97[EUR][1000 genomes]
rs36121690	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3729577	0.84[EUR][1000 genomes]
rs3731487	0.84[EUR][1000 genomes]
rs3731489	0.84[EUR][1000 genomes]
rs3731497	0.84[EUR][1000 genomes]
rs3731513	0.84[EUR][1000 genomes]
rs3731515	0.84[EUR][1000 genomes]
rs3731534	0.84[EUR][1000 genomes]
rs3731550	0.83[EUR][1000 genomes]
rs3731555	0.83[EUR][1000 genomes]
rs3937	0.96[EUR][1000 genomes]
rs4130522	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130995	0.83[EUR][1000 genomes]
rs4131361	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4131362	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4371540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4392440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4404473	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4420898	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4479622	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4511915	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4511916	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4541431	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4619808	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4632568	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6442110	0.83[EUR][1000 genomes]
rs6442111	0.97[EUR][1000 genomes]
rs6775179	0.97[EUR][1000 genomes]
rs6782166	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6787500	0.83[EUR][1000 genomes]
rs6791930	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6793150	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6793223	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6793239	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6794644	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6796343	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6800492	0.97[EUR][1000 genomes]
rs6801801	0.97[EUR][1000 genomes]
rs6804986	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6806112	0.81[EUR][1000 genomes]
rs71323391	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71323394	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71323395	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71323396	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71323397	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs745116	0.94[EUR][1000 genomes]
rs7614532	0.96[EUR][1000 genomes]
rs7619865	0.82[EUR][1000 genomes]
rs7621785	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7624450	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7632297	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636461	0.94[EUR][1000 genomes]
rs7644414	0.84[EUR][1000 genomes]
rs7645425	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7647817	0.84[EUR][1000 genomes]
rs7648720	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7652233	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7653152	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7653336	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9311421	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs936426	0.84[EUR][1000 genomes]
rs936427	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9818937	0.97[EUR][1000 genomes]
rs9819094	0.97[EUR][1000 genomes]
rs9825637	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9830016	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9831531	0.84[EUR][1000 genomes]
rs9833309	0.97[EUR][1000 genomes]
rs9834095	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9837228	0.97[EUR][1000 genomes]
rs9846818	0.81[EUR][1000 genomes]
rs9847953	0.96[EUR][1000 genomes]
rs9850672	0.97[EUR][1000 genomes]
rs9853804	0.97[EUR][1000 genomes];0.85[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:37)

SNP	Gene	Cis/trans	Tissue	Source
rs35778847	MRPS18AP1	cis	Artery Tibial	GTEx
rs35778847	CDC25A	cis	Artery Tibial	GTEx
rs35778847	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs35778847	CDC25A	cis	Adipose Subcutaneous	GTEx
rs35778847	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs35778847	NME6	cis	Esophagus Muscularis	GTEx
rs35778847	ZNF589	cis	Nerve Tibial	GTEx
rs35778847	ZNF589	cis	Esophagus Muscularis	GTEx
rs35778847	ZNF589	cis	Artery Aorta	GTEx
rs35778847	MRPS18AP1	cis	lung	GTEx
rs35778847	NME6	cis	multi-tissue	Pritchard
rs35778847	CDC25A	cis	Thyroid	GTEx
rs35778847	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs35778847	NME6	cis	Muscle Skeletal	GTEx
rs35778847	MRPS18AP1	cis	Nerve Tibial	GTEx
rs35778847	NME6	cis	Nerve Tibial	GTEx
rs35778847	MRPS18AP1	cis	Thyroid	GTEx
rs35778847	MRPS18AP1	cis	Artery Aorta	GTEx
rs35778847	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs35778847	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs35778847	NME6	cis	Artery Tibial	GTEx
rs35778847	ZNF589	cis	Artery Tibial	GTEx
rs35778847	SPINK8	cis	Whole Blood	GTEx
rs35778847	ZNF589	cis	Stomach	GTEx
rs35778847	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs35778847	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs35778847	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs35778847	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs35778847	ZNF589	cis	lung	GTEx
rs35778847	CDC25A	cis	Muscle Skeletal	GTEx
rs35778847	ZNF589	cis	Adipose Subcutaneous	GTEx
rs35778847	ZNF589	cis	Esophagus Mucosa	GTEx
rs35778847	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs35778847	ZNF589	cis	Thyroid	GTEx
rs35778847	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs35778847	FCF1P2	cis	Artery Tibial	GTEx
rs35778847	MRPS18AP1	cis	Stomach	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48344000-48347600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:48344000-48347800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:48344000-48348000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr3:48344000-48348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:48344000-48348200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:48344000-48348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:48344200-48347000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:48344200-48348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:48344200-48348000	Weak transcription	Monocytes-CD14+_RO01746	blood

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