Variant report

Variant	rs13440123
Chromosome Location	chr9:8785993-8785994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10977300	0.87[AMR][1000 genomes]
rs12336092	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12346651	0.87[AMR][1000 genomes]
rs12349492	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs12350494	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12351221	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16928453	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28445022	0.87[AMR][1000 genomes]
rs28454697	0.87[AMR][1000 genomes]
rs28690175	0.83[EUR][1000 genomes]
rs28733002	0.87[AMR][1000 genomes];1.00[EUR][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	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv892237	chr9:8752743-8794314	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv892238	chr9:8757828-8794314	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv892239	chr9:8773599-8805462	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv2761247	chr9:8775019-8786718	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8778800-8798600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:8783600-8786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:8783600-8786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:8783800-8786200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:8784000-8786200	Enhancers	Brain Angular Gyrus	brain
6	chr9:8784000-8786400	Active TSS	Aorta	Aorta
7	chr9:8784200-8786000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:8784800-8786200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:8784800-8786200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:8784800-8789000	Weak transcription	Fetal Heart	heart
11	chr9:8785400-8786200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:8785400-8797400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:8785600-8786000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:8785600-8786000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr9:8785600-8786000	Flanking Active TSS	Fetal Kidney	kidney
16	chr9:8785600-8786200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr9:8785600-8786200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr9:8785800-8786000	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:8785800-8786000	Enhancers	Fetal Lung	lung
20	chr9:8785800-8786000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:8785800-8786200	Enhancers	Fetal Brain Male	brain
22	chr9:8785800-8786400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:8785800-8786400	Active TSS	Brain Substantia Nigra	brain
24	chr9:8785800-8787600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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