Variant report

Variant	rs4928006
Chromosome Location	chr3:54205850-54205851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1449335	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1449336	0.81[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs2359784	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs4345101	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[EUR][1000 genomes]
rs4352397	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4928003	0.87[EUR][1000 genomes]
rs4928004	0.89[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4928007	0.81[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs57078240	0.84[ASN][1000 genomes]
rs57667949	0.85[ASN][1000 genomes]
rs58953413	0.93[ASN][1000 genomes]
rs6445630	0.90[AFR][1000 genomes]
rs6445631	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs6790642	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs6795550	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7649696	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs881701	0.81[YRI][hapmap]
rs9829714	0.93[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs9844833	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised 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	chr3:54200400-54214800	Weak transcription	Psoas Muscle	Psoas
2	chr3:54203800-54206000	Weak transcription	Lung	lung
3	chr3:54204600-54206400	Enhancers	Hela-S3	cervix
4	chr3:54205200-54206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:54205400-54206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:54205800-54206200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:54205800-54207200	Enhancers	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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