Variant report

Variant	rs1923773
Chromosome Location	chr13:53750354-53750355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12860317	0.82[JPT][hapmap];0.89[MEX][hapmap]
rs1322960	0.80[ASN][1000 genomes]
rs1885767	0.80[ASN][1000 genomes]
rs1909650	0.81[CEU][hapmap]
rs1923772	0.97[ASN][1000 genomes]
rs1951725	0.80[ASN][1000 genomes]
rs2759674	0.96[ASN][1000 genomes]
rs2759713	0.80[ASN][1000 genomes]
rs2806937	0.97[ASN][1000 genomes]
rs2806940	0.97[ASN][1000 genomes]
rs2806994	0.83[ASN][1000 genomes]
rs71430868	0.85[EUR][1000 genomes]
rs9536340	1.00[ASW][hapmap]
rs9536375	0.81[AMR][1000 genomes];0.85[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	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1923773	NEK5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53745400-53750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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