Variant report

Variant	rs60808478
Chromosome Location	chr5:124596554-124596555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11241798	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11954918	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11956263	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1371382	0.88[ASN][1000 genomes]
rs1562126	0.87[ASN][1000 genomes]
rs17152551	0.90[ASN][1000 genomes]
rs59115551	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59456631	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62373298	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62373302	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6880511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6890859	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs920388	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr5:124590600-124596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:124593200-124609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:124593400-124596600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:124593400-124596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:124593600-124597400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:124593600-124598600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:124594000-124597600	Weak transcription	ES-I3 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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