Variant report

Variant	rs753394
Chromosome Location	chr9:17454399-17454400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10114087	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10511634	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16935618	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16935659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3808783	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3808786	1.00[EUR][1000 genomes]
rs3824393	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961440	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4961441	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4961536	1.00[EUR][1000 genomes]
rs4961546	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4961558	1.00[EUR][1000 genomes]
rs4961560	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4961561	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4961562	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4961563	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4961564	0.89[AMR][1000 genomes]
rs57299809	0.83[EUR][1000 genomes]
rs58945647	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60964536	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61584793	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7036123	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73414434	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892668	chr9:17371690-17532840	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892670	chr9:17378776-17507277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv523411	chr9:17394536-17454799	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
2	chr9:17411800-17481000	Weak transcription	Aorta	Aorta
3	chr9:17426400-17466800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:17439400-17466800	Weak transcription	NHDF-Ad	bronchial
5	chr9:17440400-17494600	Weak transcription	Left Ventricle	heart
6	chr9:17441200-17458000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:17441200-17467000	Weak transcription	Adipose Nuclei	Adipose
8	chr9:17441400-17466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:17442000-17491800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:17442200-17467200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:17446000-17467400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:17448000-17457600	Weak transcription	Liver	Liver
13	chr9:17448000-17466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:17448000-17503400	Weak transcription	Ovary	ovary
15	chr9:17448400-17496400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:17448600-17495800	Weak transcription	Dnd41	blood
17	chr9:17452800-17495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:17453000-17472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:17453000-17497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:17453800-17466800	Weak transcription	Fetal Lung	lung
21	chr9:17453800-17504200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:17454000-17491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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