Variant report

Variant	rs4693373
Chromosome Location	chr4:95081378-95081379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10003038	0.84[CEU][hapmap]
rs10003941	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10007463	0.82[CEU][hapmap]
rs10011158	0.83[EUR][1000 genomes]
rs10014718	0.82[CEU][hapmap]
rs10015860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018481	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018599	0.82[CEU][hapmap]
rs10018797	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10019728	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10023074	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10025333	0.82[CEU][hapmap]
rs10027578	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs10029060	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10029551	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs10029613	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10030605	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs10032125	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs10433968	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10461171	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516948	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs1073590	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11936297	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11936634	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11943567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186176	0.80[CEU][hapmap]
rs1509947	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17301787	0.85[TSI][hapmap]
rs17303283	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs17374902	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs17374964	0.81[CEU][hapmap]
rs17376684	0.82[CEU][hapmap]
rs2126830	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2126831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2126832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2169720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28463840	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28498973	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28565382	0.84[EUR][1000 genomes]
rs28611432	0.87[EUR][1000 genomes]
rs28671031	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682473	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28683735	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28707595	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28761031	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28767532	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28832922	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28834473	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28851883	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28879383	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4692997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693370	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693371	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4693372	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5025474	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110205	0.83[EUR][1000 genomes]
rs60678015	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532466	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6815436	0.81[EUR][1000 genomes]
rs6819489	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6834248	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6844517	0.82[CEU][hapmap]
rs6845246	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6848742	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs6857003	0.82[CEU][hapmap]
rs7654621	0.82[CEU][hapmap]
rs7693022	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307138	0.82[CEU][hapmap]
rs9991214	0.81[CEU][hapmap]
rs9991386	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9992255	0.82[CEU][hapmap]
rs9992620	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9992640	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9993715	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9996908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931979	chr4:94289958-95121723	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv821636	chr4:94439636-95116590	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv879618	chr4:94980768-95136164	Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879621	chr4:95046907-95099194	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4693373	RAGE	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95080200-95081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:95081000-95083000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:95081200-95081800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:95081200-95082200	Enhancers	HUES64 Cell Line	embryonic stem cell

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