Variant report

Variant	rs60991632
Chromosome Location	chr3:46091657-46091658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10510747	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1118021	0.89[EUR][1000 genomes]
rs12054287	0.89[EUR][1000 genomes]
rs12486449	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13434141	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1491960	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1602580	0.88[EUR][1000 genomes]
rs1604068	0.91[ASN][1000 genomes]
rs17078567	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17078589	0.81[ASN][1000 genomes]
rs2036295	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2133662	0.82[EUR][1000 genomes]
rs2173639	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34906043	0.95[AFR][1000 genomes]
rs4339141	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4447807	0.89[EUR][1000 genomes]
rs4490402	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4682804	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682805	0.80[ASN][1000 genomes]
rs4682807	0.80[ASN][1000 genomes]
rs4683169	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683174	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56800498	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58035200	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58260031	0.84[EUR][1000 genomes]
rs59865404	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60488096	0.83[ASN][1000 genomes]
rs60539039	0.91[EUR][1000 genomes]
rs61066315	0.90[EUR][1000 genomes]
rs61254379	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62242832	0.89[EUR][1000 genomes]
rs62242846	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62243869	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62243873	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62243875	0.83[EUR][1000 genomes]
rs62243876	0.83[EUR][1000 genomes]
rs6763341	0.82[EUR][1000 genomes]
rs6807854	0.82[EUR][1000 genomes]
rs751625	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7623476	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7641151	0.90[EUR][1000 genomes]
rs7641164	0.90[EUR][1000 genomes]
rs7643426	0.83[EUR][1000 genomes]
rs9818635	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9849715	0.90[EUR][1000 genomes]
rs9856805	0.80[ASN][1000 genomes]
rs9990060	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr3:46087600-46095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:46090400-46091800	Enhancers	NHEK	skin
3	chr3:46090400-46092400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:46091000-46092200	Weak transcription	Fetal Kidney	kidney
5	chr3:46091200-46093600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46091200-46094200	Weak transcription	Placenta	Placenta
7	chr3:46091600-46092000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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