Variant report

Variant	rs58117463
Chromosome Location	chr12:117315156-117315157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11068221	1.00[AMR][1000 genomes]
rs11068222	1.00[AMR][1000 genomes]
rs12227855	0.83[AMR][1000 genomes]
rs12311024	1.00[AMR][1000 genomes]
rs12311027	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316109	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489658	0.83[AMR][1000 genomes]
rs57654988	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393784	0.80[AFR][1000 genomes]
rs73393787	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393789	0.83[AMR][1000 genomes]
rs73393793	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393797	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117312600-117316000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:117312800-117316400	Weak transcription	Right Atrium	heart
3	chr12:117313600-117315200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr12:117314000-117316000	Bivalent Enhancer	Fetal Thymus	thymus
5	chr12:117314000-117316400	Weak transcription	Gastric	stomach
6	chr12:117314400-117316000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:117314400-117316000	Weak transcription	Thymus	Thymus
8	chr12:117314600-117315200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:117314800-117316400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:117315000-117315200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr12:117315000-117315600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:117315000-117316000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:117315000-117316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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