Variant report

Variant	rs506848
Chromosome Location	chr1:91893591-91893592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10874496	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs499574	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs516462	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs534984	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs543234	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs556803	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556952	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs579546	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs579603	0.84[AMR][1000 genomes];0.92[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr1:91893200-91893600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:91893200-91893800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:91893200-91894200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:91893200-91894400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:91893200-91894400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:91893200-91894400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:91893400-91894000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:91893400-91894000	Active TSS	Right Ventricle	heart
9	chr1:91893400-91894400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:91893400-91894400	Enhancers	iPS DF 19.11 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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