Variant report

Variant	rs153683
Chromosome Location	chr5:52477590-52477591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12658866	0.87[EUR][1000 genomes]
rs1345758	0.85[AMR][1000 genomes]
rs152974	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs153122	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs153125	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251513	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251516	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs254628	0.85[AMR][1000 genomes]
rs254629	0.85[AMR][1000 genomes]
rs27315	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27317	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27906	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs30711	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38057	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs38059	1.00[ASW][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs39859	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42205	0.97[EUR][1000 genomes];0.87[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52477200-52477600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:52477200-52479800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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