Variant report

Variant	rs2245205
Chromosome Location	chr1:69689512-69689513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs2243406	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2243482	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243513	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2245305	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245318	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245330	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2246059	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246060	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246084	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246312	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246316	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246327	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2248308	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248437	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2248671	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248775	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249355	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249379	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249479	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249487	0.95[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs2249870	0.95[CEU][hapmap]
rs2612233	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2612234	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2612235	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2612236	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2612238	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2612239	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2791209	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2791210	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2815431	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2815434	0.85[EUR][1000 genomes]
rs3753694	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4265389	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv830115	chr1:69593494-69736995	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1299	chr1:69687227-69732225	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2245205	POLR3E	trans	cerebellum	SCAN
rs2245205	MIER1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69688400-69693600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:69688800-69690000	Enhancers	Liver	Liver

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