Variant report

Variant	rs7516261
Chromosome Location	chr1:79928591-79928592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11162686	0.87[CHB][hapmap]
rs11162695	0.93[EUR][1000 genomes]
rs11162696	0.93[EUR][1000 genomes]
rs11162697	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11578751	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11588913	0.80[ASN][1000 genomes]
rs11591000	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12724768	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12726250	0.86[EUR][1000 genomes]
rs12727530	0.80[ASN][1000 genomes]
rs12732505	0.85[EUR][1000 genomes]
rs12734357	0.85[EUR][1000 genomes]
rs12739762	0.81[EUR][1000 genomes]
rs12745266	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12749113	0.85[EUR][1000 genomes]
rs12749224	0.84[EUR][1000 genomes]
rs12754109	0.90[ASN][1000 genomes]
rs12760991	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1331709	0.94[CHB][hapmap]
rs1353290	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1389942	0.85[CEU][hapmap];0.91[TSI][hapmap]
rs1389946	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1494843	0.85[ASN][1000 genomes]
rs1494852	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1494856	0.80[ASN][1000 genomes]
rs1494865	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17417360	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17418410	0.87[ASN][1000 genomes]
rs17418579	0.80[ASN][1000 genomes]
rs17451181	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17451905	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2029788	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2101800	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2132055	0.87[ASN][1000 genomes]
rs2132057	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2860503	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2934867	0.85[ASN][1000 genomes]
rs2934873	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2934878	0.83[EUR][1000 genomes]
rs3000098	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3000110	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3000133	0.85[EUR][1000 genomes]
rs3000155	0.81[EUR][1000 genomes]
rs3000174	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3000175	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3000176	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3000177	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3000178	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3000179	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3015006	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3015008	0.83[EUR][1000 genomes]
rs3015025	0.85[EUR][1000 genomes]
rs3015098	0.82[AMR][1000 genomes]
rs3015107	0.87[EUR][1000 genomes]
rs3015108	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015120	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33944981	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34146004	0.85[EUR][1000 genomes]
rs34322872	0.85[ASN][1000 genomes]
rs34510598	0.85[EUR][1000 genomes]
rs34554398	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35352017	0.86[EUR][1000 genomes]
rs35490451	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35676104	0.85[EUR][1000 genomes]
rs35706038	0.86[EUR][1000 genomes]
rs35707904	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35733452	0.85[EUR][1000 genomes]
rs35963120	0.86[EUR][1000 genomes]
rs36033983	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4414002	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4506421	0.92[CHB][hapmap]
rs4604653	0.87[ASN][1000 genomes]
rs4630085	0.85[EUR][1000 genomes]
rs58635031	0.85[ASN][1000 genomes]
rs61031256	0.85[ASN][1000 genomes]
rs61767574	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66530141	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6661645	0.85[EUR][1000 genomes]
rs6692670	0.84[EUR][1000 genomes]
rs6699018	0.84[EUR][1000 genomes]
rs7527570	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536196	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7536365	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7555044	0.84[EUR][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	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7516261	USP33	cis	cerebellum	SCAN
rs7516261	GYPC	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79927400-79929600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:79928400-79928800	Weak transcription	GM12878-XiMat	blood

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