Variant report

Variant	rs2653534
Chromosome Location	chr14:79578145-79578146
allele	A/G
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	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	0.83[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]
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]
rs2653541	1.00[YRI][hapmap];1.00[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: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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79565000-79578800	Weak transcription	Aorta	Aorta
2	chr14:79577600-79578800	Enhancers	HSMMtube	muscle
3	chr14:79577600-79579200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr14:79577600-79579400	Enhancers	HSMM	muscle
5	chr14:79577800-79578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:79577800-79579200	Enhancers	Osteobl	bone
7	chr14:79577800-79579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:79578000-79578200	Enhancers	Stomach Smooth Muscle	stomach
9	chr14:79578000-79579200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:79578000-79581200	Enhancers	Rectal Smooth Muscle	rectum

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