Variant report

Variant	rs17008338
Chromosome Location	chr1:220885950-220885951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12023149	0.89[ASN][1000 genomes]
rs12025460	0.91[ASN][1000 genomes]
rs12034895	0.91[ASN][1000 genomes]
rs12038621	0.81[ASN][1000 genomes]
rs12042585	0.91[ASN][1000 genomes]
rs12043602	0.91[ASN][1000 genomes]
rs17008263	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17008299	0.90[EUR][1000 genomes]
rs17008318	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17587507	1.00[AFR][1000 genomes]
rs35297838	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6666610	0.81[EUR][1000 genomes]
rs6669951	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6673306	0.81[EUR][1000 genomes]
rs6695882	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72472366	0.91[ASN][1000 genomes]
rs7541294	0.81[EUR][1000 genomes]
rs7545562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220878400-220886000	Enhancers	HepG2	liver
2	chr1:220883800-220886800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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