Variant report

Variant	rs509190
Chromosome Location	chr12:117750397-117750398
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3782204	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs505381	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522910	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552268	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs567910	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7295972	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733334	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977109	0.93[EUR][1000 genomes]
rs816297	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	esv3324272	chr12:117748669-117753067	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117728000-117771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:117739800-117771400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:117740000-117756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:117749400-117770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:117749600-117756400	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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