Variant report

Variant	rs480519
Chromosome Location	chr18:40363937-40363938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1789212	1.00[AMR][1000 genomes]
rs1790567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622327	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622328	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs2642798	0.88[AFR][1000 genomes]
rs474323	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs483520	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs487851	0.90[YRI][hapmap]
rs488727	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495065	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511729	1.00[YRI][hapmap]
rs522755	1.00[AMR][1000 genomes]
rs565932	1.00[AMR][1000 genomes]
rs600534	0.82[AFR][1000 genomes]
rs601707	0.85[AFR][1000 genomes]
rs604729	1.00[AMR][1000 genomes]
rs607455	0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs612241	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617125	1.00[AMR][1000 genomes]
rs618537	0.90[YRI][hapmap]
rs624586	1.00[AMR][1000 genomes]
rs632475	1.00[AMR][1000 genomes]
rs647925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653863	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs659129	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs662508	1.00[YRI][hapmap]
rs663446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670649	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs674340	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs684010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486762	0.88[AFR][1000 genomes]
rs73951006	1.00[AMR][1000 genomes]
rs73951755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73951761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73951766	0.97[AFR][1000 genomes];1.00[AMR][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	nsv833632	chr18:40187679-40388058	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1056794	chr18:40197837-40688514	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40361400-40365800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:40361800-40365600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:40363000-40364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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