Variant report

Variant	rs716831
Chromosome Location	chr9:14063294-14063295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1799675	1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4142978	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs490911	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs513997	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs542811	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs543458	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs564854	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs565593	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs567563	0.98[EUR][1000 genomes]
rs6474808	0.93[EUR][1000 genomes]
rs6474809	0.96[EUR][1000 genomes]
rs719958	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14058600-14066800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:14062000-14063600	Enhancers	Fetal Muscle Leg	muscle
3	chr9:14062000-14064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:14062200-14063600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:14062200-14063800	Enhancers	NHEK	skin
6	chr9:14062400-14063400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:14062400-14063600	Enhancers	NH-A	brain
8	chr9:14062400-14064200	Enhancers	Fetal Stomach	stomach
9	chr9:14062800-14063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:14062800-14063600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:14063000-14063400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:14063000-14063400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:14063000-14063400	Flanking Active TSS	Fetal Lung	lung
14	chr9:14063000-14063600	Enhancers	Brain Germinal Matrix	brain
15	chr9:14063000-14063600	Enhancers	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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