Variant report

Variant	rs6593523
Chromosome Location	chr1:76486908-76486909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1013629	0.84[EUR][1000 genomes]
rs1013630	0.83[EUR][1000 genomes]
rs10430051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251490	0.83[EUR][1000 genomes]
rs1251525	0.82[ASN][1000 genomes]
rs1251527	0.82[ASN][1000 genomes]
rs12753569	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1340689	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1856835	0.88[EUR][1000 genomes]
rs3179693	0.81[ASN][1000 genomes]
rs4381138	0.86[EUR][1000 genomes]
rs61771304	0.85[EUR][1000 genomes]
rs6668566	0.87[EUR][1000 genomes]
rs6676370	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6696116	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6703034	0.81[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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6593523	ST6GALNAC3	cis	multi-tissue	Pritchard
rs6593523	ST6GALNAC3	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76484600-76489400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:76484800-76487400	Weak transcription	Fetal Lung	lung
3	chr1:76484800-76489600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76485000-76488400	Weak transcription	Placenta Amnion	Placenta Amnion

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Input of quick search could be:

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

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