Variant report

Variant	rs907548
Chromosome Location	chr3:89574852-89574853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1028013	0.91[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes]
rs1054750	0.91[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1080592	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1157607	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1157608	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12152372	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12629165	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12629758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12631313	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12633325	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12634269	0.89[EUR][1000 genomes]
rs12634341	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12636710	0.95[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12639506	0.91[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs1499780	0.86[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1512183	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1512185	0.91[CEU][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs17026944	0.91[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs17026990	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17801001	0.83[MEX][hapmap]
rs17801380	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1912965	0.86[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1912966	0.91[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2048518	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048519	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048520	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048521	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069183	0.89[EUR][1000 genomes]
rs2117138	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2346840	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2881488	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3762717	0.95[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59541469	0.80[EUR][1000 genomes]
rs60759140	0.80[EUR][1000 genomes]
rs6551412	0.86[CEU][hapmap];0.93[GIH][hapmap];0.80[TSI][hapmap]
rs6795074	0.91[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6800436	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs73139104	0.83[AMR][1000 genomes]
rs73139105	0.82[EUR][1000 genomes]
rs73139110	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73139115	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73139117	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73139118	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73139119	0.80[EUR][1000 genomes]
rs73139121	0.83[EUR][1000 genomes]
rs73139125	0.83[EUR][1000 genomes]
rs73139127	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73139129	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73139131	0.82[EUR][1000 genomes]
rs73139133	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73139134	0.85[EUR][1000 genomes]
rs73139135	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73139139	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73139144	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73139147	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73139148	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73139261	0.83[AMR][1000 genomes]
rs73139276	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73139281	0.80[EUR][1000 genomes]
rs73139284	0.80[EUR][1000 genomes]
rs73139286	0.80[EUR][1000 genomes]
rs73139288	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73139290	0.81[EUR][1000 genomes]
rs73139296	0.81[EUR][1000 genomes]
rs73139302	0.81[EUR][1000 genomes]
rs73141104	0.81[EUR][1000 genomes]
rs73141108	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73141113	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73144998	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73145303	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73145304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73145305	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145310	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145312	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145316	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73145345	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73145353	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73145357	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73146907	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73146968	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73146970	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73146972	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73149109	0.99[EUR][1000 genomes]
rs73149113	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73149115	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73153218	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7615949	0.82[MEX][hapmap]
rs7626735	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7650466	0.95[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs819293	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs870899	0.83[MEX][hapmap]
rs972030	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008018	chr3:89382031-90254063	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv536639	chr3:89382031-90254063	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1010932	chr3:89424428-90192503	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv590952	chr3:89493167-89727198	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010021	chr3:89521983-90141988	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv524781	chr3:89543677-89597679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv530024	chr3:89548440-90304841	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs907548	EPHA3	cis	cerebellum	SCAN
rs907548	EPHA3	cis	Temporal Cortex	GTEx
rs907548	EPHA3	cis	Frontal Cortex	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89574200-89575400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:89574600-89575000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:89574600-89575200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:89574800-89575000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:89574800-89575000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:89574800-89575000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:89574800-89575000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:89574800-89575000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:89574800-89578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:89574800-89578400	Weak transcription	Fetal Lung	lung
11	chr3:89574800-89578800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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