Variant report

Variant	rs73480253
Chromosome Location	chr13:49356199-49356200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1025235	1.00[AMR][1000 genomes]
rs1323554	1.00[AMR][1000 genomes]
rs17072194	1.00[AMR][1000 genomes]
rs56797165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032491	1.00[AMR][1000 genomes]
rs58142652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59725117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480204	1.00[AMR][1000 genomes]
rs73480220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480223	1.00[AMR][1000 genomes]
rs73480233	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480245	1.00[AMR][1000 genomes]
rs73480249	1.00[AMR][1000 genomes]
rs73480258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482300	1.00[AMR][1000 genomes]
rs73482301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484304	1.00[AMR][1000 genomes]
rs73484316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7994259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:49349200-49356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:49350400-49356800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:49352400-49356800	Weak transcription	Left Ventricle	heart
5	chr13:49354800-49356600	Weak transcription	HMEC	breast
6	chr13:49356000-49356600	Enhancers	Hela-S3	cervix
7	chr13:49356000-49356800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr13:49356000-49358800	Enhancers	Placenta	Placenta

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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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