Variant report

Variant	rs12480510
Chromosome Location	chr20:15913696-15913697
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55784451	1.00[AMR][1000 genomes]
rs57703908	1.00[AMR][1000 genomes]
rs59529351	1.00[AMR][1000 genomes]
rs73244633	1.00[AMR][1000 genomes]
rs73248574	1.00[AMR][1000 genomes]
rs73900239	1.00[AMR][1000 genomes]
rs73900245	1.00[AMR][1000 genomes]
rs8117514	1.00[AMR][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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15884400-15917400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:15904800-15916200	Weak transcription	GM12878-XiMat	blood
3	chr20:15911600-15915000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15912000-15915000	Weak transcription	Fetal Brain Male	brain
5	chr20:15912000-15930200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:15912200-15914000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:15912600-15913800	Enhancers	Primary B cells from peripheral blood	blood
8	chr20:15913000-15915600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:15913600-15917400	Weak transcription	Primary B cells from cord blood	blood

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

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