Variant report

Variant	rs12320418
Chromosome Location	chr12:122920532-122920533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs7294383	1.00[AMR][1000 genomes]
rs7311062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.97[AFR][1000 genomes];1.00[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122908400-122922000	Weak transcription	Right Atrium	heart
2	chr12:122908800-122921800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:122916400-122921800	Weak transcription	Brain Angular Gyrus	brain
4	chr12:122916600-122921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:122916800-122921400	Weak transcription	Placenta	Placenta
6	chr12:122917400-122921400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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