Variant report

Variant	rs1388257
Chromosome Location	chr3:56508069-56508070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1491169	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1552671	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878270	0.82[AMR][1000 genomes]
rs2317065	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2873348	0.87[EUR][1000 genomes]
rs6776781	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs923654	0.86[AMR][1000 genomes]
rs9311602	0.86[AMR][1000 genomes]
rs9819137	0.84[AMR][1000 genomes]
rs9831365	0.86[AMR][1000 genomes]
rs9853704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9858744	0.86[AMR][1000 genomes]
rs9873381	0.85[AMR][1000 genomes]
rs9990024	0.90[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	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr3:56502400-56510800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:56503200-56510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:56507600-56508400	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:56507600-56508400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:56507800-56508200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:56507800-56508400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:56508000-56510600	Weak transcription	iPS-15b 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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