Variant report

Variant	rs73900546
Chromosome Location	chr20:22706292-22706293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17754749	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17816623	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17816810	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55844003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036207	0.86[ASN][1000 genomes]
rs6048318	0.86[ASN][1000 genomes]
rs6106546	0.87[ASN][1000 genomes]
rs72490809	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73306732	0.84[ASN][1000 genomes]
rs73900543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:22704200-22708000	Weak transcription	Spleen	Spleen
3	chr20:22704600-22708400	Weak transcription	Stomach Mucosa	stomach
4	chr20:22705200-22709000	Weak transcription	Right Ventricle	heart
5	chr20:22706000-22709000	Weak transcription	NHEK	skin
6	chr20:22706200-22706400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr20:22706200-22708200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:22706200-22708400	Weak transcription	HSMM	muscle
9	chr20:22706200-22708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:22706200-22708800	Weak transcription	A549	lung
11	chr20:22706200-22708800	Weak transcription	Hela-S3	cervix
12	chr20:22706200-22709000	Weak transcription	HMEC	breast

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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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