Variant report

Variant	rs60716916
Chromosome Location	chr5:90637572-90637573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10942629	0.93[EUR][1000 genomes]
rs11950828	0.92[EUR][1000 genomes]
rs2063461	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916713	0.87[EUR][1000 genomes]
rs4916860	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57318317	0.96[EUR][1000 genomes]
rs62373948	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62373959	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6873839	0.90[EUR][1000 genomes]
rs6886011	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90634800-90637800	Enhancers	Hela-S3	cervix
2	chr5:90635000-90639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:90635600-90639800	Weak transcription	A549	lung
4	chr5:90636200-90639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:90636800-90637800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:90636800-90638000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:90636800-90638400	Enhancers	Adipose Nuclei	Adipose
8	chr5:90637200-90637600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:90637200-90638400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90637400-90637600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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