Variant report

Variant	rs73041114
Chromosome Location	chr5:5287717-5287718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10068364	0.82[EUR][1000 genomes]
rs10512780	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16875236	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964391	0.88[EUR][1000 genomes]
rs35333017	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57251518	0.83[AMR][1000 genomes]
rs60073863	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6859677	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73023534	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73023579	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73039115	1.00[EUR][1000 genomes]
rs73039118	1.00[EUR][1000 genomes]
rs73039119	1.00[EUR][1000 genomes]
rs73039122	0.91[EUR][1000 genomes]
rs73039185	1.00[EUR][1000 genomes]
rs73039191	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041130	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5271800-5291400	Weak transcription	Ovary	ovary
2	chr5:5272400-5298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:5277000-5291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:5279400-5288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:5286000-5288200	Enhancers	NH-A	brain
6	chr5:5287200-5288000	Enhancers	Hela-S3	cervix
7	chr5:5287600-5288000	Weak transcription	A549	lung

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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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