Variant report

Variant	rs508612
Chromosome Location	chr17:67333889-67333890
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000132478	Chromatin interaction
ENSG00000266980	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000108479	Chromatin interaction
ENSG00000263565	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12150548	0.89[EUR][1000 genomes]
rs12450405	0.87[EUR][1000 genomes]
rs12452605	0.87[EUR][1000 genomes]
rs17687227	0.89[EUR][1000 genomes]
rs1822408	0.87[EUR][1000 genomes]
rs35819023	0.85[ASN][1000 genomes]
rs482529	0.85[ASN][1000 genomes]
rs490395	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs520585	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540281	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs540839	0.81[EUR][1000 genomes]
rs546558	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551011	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571598	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60107058	0.87[EUR][1000 genomes]
rs920766	0.88[EUR][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	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr17:67324200-67336200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67328400-67341200	Weak transcription	ES-UCSF4 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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