Variant report

Variant	rs2653541
Chromosome Location	chr14:79588275-79588276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10139370	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10139445	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12893811	0.97[AFR][1000 genomes]
rs1993959	0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2035285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2202173	0.97[AFR][1000 genomes]
rs2202181	0.98[AFR][1000 genomes]
rs2620388	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620389	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620396	0.83[AMR][1000 genomes]
rs2620397	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653534	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653535	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2653536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653537	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653538	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653540	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653542	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938031	1.00[AMR][1000 genomes]
rs2964900	1.00[AMR][1000 genomes]
rs4243662	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs4542593	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs4899729	0.85[AFR][1000 genomes]
rs5023075	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6574488	0.95[AFR][1000 genomes]
rs8005119	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs937649	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1040837	chr14:79583862-79711565	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79584400-79590600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:79585200-79589800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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