Variant report

Variant	rs706588
Chromosome Location	chr13:54739139-54739140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1334874	0.98[ASN][1000 genomes]
rs1335976	0.96[ASN][1000 genomes]
rs1335977	0.98[ASN][1000 genomes]
rs1577576	0.98[ASN][1000 genomes]
rs2210849	0.93[ASN][1000 genomes]
rs2576147	0.92[GIH][hapmap]
rs4274311	0.98[ASN][1000 genomes]
rs551408	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs574623	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs600930	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61956190	0.90[ASN][1000 genomes]
rs653228	0.82[ASN][1000 genomes]
rs6561768	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs667408	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs681704	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7329766	0.98[ASN][1000 genomes]
rs7335075	0.98[ASN][1000 genomes]
rs7992992	0.98[ASN][1000 genomes]
rs9527179	0.98[ASN][1000 genomes]
rs9568990	0.98[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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr13:54722600-54741200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:54736800-54740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:54736800-54741600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:54737200-54746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:54738800-54740000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:54739000-54740000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr13:54739000-54741000	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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