Variant report

Variant	rs1993959
Chromosome Location	chr14:79580377-79580378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10139370	0.83[YRI][hapmap];0.97[AFR][1000 genomes]
rs10139445	0.83[YRI][hapmap];0.97[AFR][1000 genomes]
rs12893811	0.97[AFR][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	0.83[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620389	0.83[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	0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653534	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653535	0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2653536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653537	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653538	0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653540	0.83[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653541	0.80[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653542	0.82[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	0.83[YRI][hapmap];0.98[AFR][1000 genomes]
rs4542593	0.83[YRI][hapmap];0.98[AFR][1000 genomes]
rs4899729	0.85[AFR][1000 genomes]
rs5023075	0.83[YRI][hapmap];0.95[AFR][1000 genomes]
rs6574488	0.95[AFR][1000 genomes]
rs8005119	0.83[YRI][hapmap];0.97[AFR][1000 genomes]
rs937649	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79578000-79581200	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:79578400-79581200	Enhancers	Colon Smooth Muscle	Colon
3	chr14:79579200-79584200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:79579600-79580600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:79579600-79581200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:79580200-79584000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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