Variant report

Variant	rs41478451
Chromosome Location	chr12:117671704-117671705
allele	C/T
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]
rs11068418	0.89[ASN][1000 genomes]
rs12308759	0.94[ASN][1000 genomes]
rs12312476	0.90[AFR][1000 genomes]
rs2293044	0.89[ASN][1000 genomes]
rs9658480	1.00[EUR][1000 genomes]
rs9658562	0.94[ASN][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	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117658200-117678200	Weak transcription	Pancreas	Pancrea
3	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
4	chr12:117664800-117672400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117665600-117672200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117665600-117672400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:117670000-117687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:117670200-117671800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117670400-117671800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:117671200-117674200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:117671600-117672600	Strong 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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