Variant report

Variant	rs60820134
Chromosome Location	chr9:79363838-79363839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10781375	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10781376	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869808	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10869810	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10869811	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869812	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11145032	0.97[ASN][1000 genomes]
rs11145033	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11145035	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11145036	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11145038	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12345014	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12349206	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683741	0.81[EUR][1000 genomes]
rs1571446	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56878970	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58570686	0.86[ASN][1000 genomes]
rs7848492	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314853	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79333200-79370000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:79348200-79370200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:79348400-79370200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:79348400-79370200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:79358400-79370800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:79359600-79365400	Weak transcription	HSMMtube	muscle
7	chr9:79361000-79365400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:79361200-79364200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:79361200-79364200	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:79361200-79364400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:79361200-79396600	Weak transcription	Aorta	Aorta
12	chr9:79362200-79370400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:79362400-79365600	Weak transcription	HSMM	muscle
14	chr9:79363600-79364000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:79363600-79364600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:79363800-79364400	Enhancers	Brain Hippocampus Middle	brain
17	chr9:79363800-79364600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:79363800-79364600	Enhancers	Brain Substantia Nigra	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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