Variant report

Variant	rs1599230
Chromosome Location	chr3:53649486-53649487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11130373	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1380606	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2612018	0.87[MKK][hapmap];0.88[YRI][hapmap]
rs2612022	0.81[CEU][hapmap]
rs2680654	0.81[CEU][hapmap]
rs3774472	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3774475	0.96[ASN][1000 genomes]
rs3774481	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3774491	0.81[CEU][hapmap]
rs6445590	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6786135	0.91[ASW][hapmap];0.81[CEU][hapmap];0.82[LWK][hapmap];0.91[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6803904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7630805	0.81[CEU][hapmap]
rs898408	0.88[YRI][hapmap]
rs898415	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs898416	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs9810888	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9850569	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9866078	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.89[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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53635400-53650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:53639400-53650200	Weak transcription	Fetal Intestine Small	intestine
3	chr3:53640000-53650800	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53641200-53650000	Weak transcription	Fetal Lung	lung
5	chr3:53645400-53651000	Weak transcription	Lung	lung
6	chr3:53646800-53651000	Weak transcription	Spleen	Spleen
7	chr3:53647000-53650200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:53647000-53650400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:53648800-53650000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:53648800-53651600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:53649000-53650000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:53649200-53649600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:53649400-53650200	Weak transcription	Primary B cells from peripheral blood	blood

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