Variant report

Variant	rs13278375
Chromosome Location	chr8:50700687-50700688
allele	C/T
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:17)

rs_ID	r²[population]
rs10957592	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12386943	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12386985	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13252151	1.00[AMR][1000 genomes]
rs13281608	1.00[AMR][1000 genomes]
rs2171191	1.00[AMR][1000 genomes]
rs4548196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4567054	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4644276	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4873380	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4873384	1.00[AMR][1000 genomes]
rs4873385	1.00[AMR][1000 genomes]
rs6415621	1.00[YRI][hapmap]
rs6472674	1.00[YRI][hapmap]
rs6996687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7386545	0.83[ASW][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap]
rs7824738	0.92[AFR][1000 genomes];1.00[AMR][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	nsv917031	chr8:50207246-50709286	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:50693200-50719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:50696800-50704000	Weak transcription	H9 Derived Neuron 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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