Variant report

Variant	rs41452648
Chromosome Location	chr12:117706317-117706318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73403582	0.89[EUR][1000 genomes]
rs9658386	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9658397	1.00[EUR][1000 genomes]
rs9658527	0.81[EUR][1000 genomes]
rs9658550	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9658574	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1051681	chr12:117692761-117720185	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
2	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117693800-117715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:117695600-117718200	Weak transcription	Pancreas	Pancrea
5	chr12:117697200-117746200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:117701800-117710200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117703600-117717600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:117705000-117709400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:117705000-117709400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117705800-117709400	Weak transcription	NHEK	skin

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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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