Variant report

Variant	rs4668312
Chromosome Location	chr2:171606827-171606828
allele	C/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	GATA3	chr2:171606780-171607014	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171599446..171601204-chr2:171604629..171607257,2	K562	blood:

Variant related genes	Relation type
EIF2S2P4	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10179149	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10181981	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10184230	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10185519	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10188135	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10193894	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10200830	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10204585	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211629	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10460355	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10460356	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930437	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11684810	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12472667	0.94[ASN][1000 genomes]
rs12611849	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12614245	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618173	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12990209	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12994080	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009323	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13014069	0.85[ASN][1000 genomes]
rs13015956	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362487	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1362491	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1420377	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1420382	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1420384	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1477060	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17694506	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17750734	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861462	0.85[YRI][hapmap]
rs1861463	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894917	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2058726	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2192987	0.85[YRI][hapmap]
rs2216135	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287109	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2356232	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2883885	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28863322	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28892917	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35294186	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233832	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667649	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667650	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4667651	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4667652	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667658	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4668302	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4668303	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4668304	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4668305	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4668306	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4668313	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4668314	0.94[ASN][1000 genomes]
rs4668317	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5003926	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5003927	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55806232	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58691943	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6433236	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433237	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6433239	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433240	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433242	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433243	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433245	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66624589	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717778	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6717785	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6723611	0.87[ASW][hapmap]
rs6726174	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727988	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6732964	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6741549	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6746220	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6746374	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6751667	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6751987	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6756891	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556674	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7563812	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572599	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582102	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582425	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582430	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594247	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7595158	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608898	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs959463	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs959464	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs959465	0.93[EUR][1000 genomes];0.91[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	nsv963746	chr2:171602620-171609432	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4668312	AC007405.4	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea

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