Variant report

Variant	rs72911575
Chromosome Location	chr2:54921349-54921350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169328	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10170283	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10175711	0.93[ASN][1000 genomes]
rs13396897	0.93[ASN][1000 genomes]
rs13399055	0.89[EUR][1000 genomes]
rs13401431	0.80[EUR][1000 genomes]
rs13422098	0.93[ASN][1000 genomes]
rs3820856	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59370148	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60307496	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6705193	0.95[EUR][1000 genomes]
rs6740018	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72911576	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72913521	0.89[EUR][1000 genomes]
rs7560775	0.93[ASN][1000 genomes]
rs7561112	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587575	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:54908800-54921400	Weak transcription	Lung	lung
2	chr2:54919400-54922400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54919400-54924800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:54919600-54921400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:54919800-54922800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:54919800-54925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:54921200-54921600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:54921200-54921800	Enhancers	HepG2	liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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