Variant report

Variant	rs2101800
Chromosome Location	chr1:79924175-79924176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10493629	0.93[ASN][1000 genomes]
rs11162695	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11162696	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11162697	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11578751	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11591000	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12724768	0.82[EUR][1000 genomes]
rs12745266	0.81[EUR][1000 genomes]
rs12760991	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1353290	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1389940	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1389942	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1389943	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1389944	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1389946	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389947	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1494852	0.80[EUR][1000 genomes]
rs1494857	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17417360	0.80[EUR][1000 genomes]
rs17451181	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1994938	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2029788	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132057	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2860503	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934868	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2934871	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2934873	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2934878	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3000098	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3000101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3000110	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3000133	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3000142	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3000148	0.81[ASN][1000 genomes]
rs3000155	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3000174	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3000175	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3000176	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3000177	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3000178	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3000179	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015006	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015008	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015013	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015017	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3015019	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3015021	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3015022	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3015025	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3015098	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3015107	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015108	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3015120	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs33944981	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34554398	0.81[EUR][1000 genomes]
rs35490451	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36033983	0.81[EUR][1000 genomes]
rs4414002	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66530141	0.80[EUR][1000 genomes]
rs6692670	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6699018	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7516261	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7527570	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7555044	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871649	chr1:79807447-79924175	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2101800	USP33	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79905400-79924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:79922800-79927200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:79923200-79924200	Enhancers	GM12878-XiMat	blood

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