Variant report

Variant	rs1393204
Chromosome Location	chr5:75336411-75336412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11741865	1.00[ASW][hapmap]
rs1423100	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1423101	1.00[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1423102	0.86[CEU][hapmap];0.86[AMR][1000 genomes]
rs171807	1.00[ASW][hapmap];0.83[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs187727	0.83[CEU][hapmap]
rs258619	1.00[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs258622	1.00[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2910449	0.83[CEU][hapmap]
rs30184	0.96[EUR][1000 genomes]
rs30246	0.83[CEU][hapmap]
rs30247	0.83[CEU][hapmap];0.91[MEX][hapmap]
rs30248	0.84[AMR][1000 genomes]
rs39832	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4428389	0.86[EUR][1000 genomes]
rs4704276	0.86[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75336400-75336800	Enhancers	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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