Variant report

Variant	rs2181389
Chromosome Location	chr13:53704246-53704247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1322954	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1322960	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1343603	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1343610	0.83[ASN][1000 genomes]
rs1885767	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1936385	0.82[ASN][1000 genomes]
rs1951725	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2759694	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2759698	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2759700	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2759713	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2759714	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2806947	0.89[EUR][1000 genomes]
rs2806971	0.81[ASN][1000 genomes]
rs2806974	0.82[ASN][1000 genomes]
rs2806978	0.83[ASN][1000 genomes]
rs2806985	0.83[EUR][1000 genomes]
rs2806994	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][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	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
2	nsv819784	chr13:53703441-53705578	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53697800-53709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:53703800-53704600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:53704200-53704600	Enhancers	HUES48 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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