Variant report

Variant	rs8192993
Chromosome Location	chr9:13706399-13706400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1324171	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs41344749	0.89[AMR][1000 genomes]
rs4565549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828033	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7026732	0.94[ASN][1000 genomes]
rs73650805	0.90[ASN][1000 genomes]
rs8192990	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8192994	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023684	chr9:13529680-13744602	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv540067	chr9:13529680-13744602	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892587	chr9:13601074-13732363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1843958	chr9:13631992-13706651	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892588	chr9:13667639-13715063	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1018933	chr9:13669862-13756710	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892589	chr9:13689066-13715328	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv892590	chr9:13689066-13777299	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13704400-13706600	Enhancers	HSMM	muscle
2	chr9:13705000-13706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:13705200-13706400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:13705200-13706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:13705200-13706600	Enhancers	Adipose Nuclei	Adipose
6	chr9:13705200-13706600	Enhancers	HSMMtube	muscle
7	chr9:13705200-13706600	Enhancers	NHDF-Ad	bronchial
8	chr9:13705200-13706800	Enhancers	NHLF	lung
9	chr9:13705200-13707400	Enhancers	HUVEC	blood vessel
10	chr9:13705200-13708000	Enhancers	Fetal Muscle Leg	muscle
11	chr9:13705400-13706400	Enhancers	Fetal Lung	lung
12	chr9:13705400-13706400	Enhancers	Left Ventricle	heart
13	chr9:13705400-13706600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:13705400-13706600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:13705400-13706600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr9:13705400-13706600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:13705400-13708800	Enhancers	NH-A	brain
18	chr9:13705600-13706400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:13705600-13706600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:13705600-13707800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:13705800-13707800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:13706000-13706400	Enhancers	Fetal Heart	heart
23	chr9:13706200-13706400	Flanking Active TSS	Osteobl	bone
24	chr9:13706200-13707600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:13706200-13708400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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