Variant report

Variant	rs58249522
Chromosome Location	chr3:79011527-79011528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009682	0.80[EUR][1000 genomes]
rs1031933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514741	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13321050	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13321792	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13321973	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13325521	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17016641	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17016646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016648	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016656	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271575	0.81[AFR][1000 genomes]
rs28412538	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493625	0.95[ASN][1000 genomes]
rs28667917	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28722753	0.95[ASN][1000 genomes]
rs28729472	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57432814	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906145	1.00[ASN][1000 genomes]
rs72906176	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906179	0.82[EUR][1000 genomes]
rs72906180	1.00[ASN][1000 genomes]
rs72910206	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72910208	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910211	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910220	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910224	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9809330	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9818387	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9822620	0.85[AFR][1000 genomes]
rs9832632	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833345	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838831	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9845223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853126	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858480	0.82[EUR][1000 genomes]
rs9861490	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870336	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9876641	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79001000-79012400	Weak transcription	Fetal Stomach	stomach
2	chr3:79001000-79024200	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:79006800-79013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:79006800-79023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:79007000-79023400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:79007200-79019400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:79010400-79011800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:79011200-79011600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:79011400-79027400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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