Variant report

Variant	rs6048319
Chromosome Location	chr20:22725520-22725521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16984389	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16984397	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6036196	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6036198	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6036199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6036209	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048303	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900551	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73900565	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1057305	chr20:22711334-22733613	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 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	chr20:22723400-22725800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:22723400-22726000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:22723400-22726000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:22723400-22726000	Enhancers	HMEC	breast
5	chr20:22723600-22726800	Enhancers	NHEK	skin
6	chr20:22724200-22726000	Enhancers	Breast Myoepithelial Primary Cells	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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