Variant report

Variant	rs4682062
Chromosome Location	chr3:111489638-111489639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12638437	1.00[GIH][hapmap]
rs1398749	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513332	1.00[ASN][1000 genomes]
rs1513333	1.00[ASN][1000 genomes]
rs1513334	1.00[GIH][hapmap]
rs17423699	0.82[TSI][hapmap]
rs35840064	1.00[ASN][1000 genomes]
rs35894167	1.00[ASN][1000 genomes]
rs3922703	0.82[TSI][hapmap]
rs4234402	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234403	0.80[ASW][hapmap];0.85[LWK][hapmap];0.88[TSI][hapmap]
rs4349472	0.82[TSI][hapmap]
rs4405880	0.85[AFR][1000 genomes]
rs4429600	0.82[TSI][hapmap]
rs4438630	0.88[AFR][1000 genomes]
rs4642091	0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682058	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682059	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682060	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682061	0.88[AFR][1000 genomes]
rs4682300	1.00[ASN][1000 genomes]
rs4682301	1.00[ASN][1000 genomes]
rs4682304	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682306	0.86[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs4682308	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs4682309	0.88[AFR][1000 genomes]
rs57628489	1.00[ASN][1000 genomes]
rs60556634	1.00[ASN][1000 genomes]
rs6780845	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs6791600	1.00[ASN][1000 genomes]
rs6804906	0.83[AFR][1000 genomes]
rs6807045	0.86[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs7620801	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7632963	0.88[AFR][1000 genomes]
rs7636559	1.00[ASN][1000 genomes]
rs7637178	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs7641533	0.88[AFR][1000 genomes]
rs7642808	1.00[ASN][1000 genomes]
rs7643067	1.00[ASN][1000 genomes]
rs7650348	1.00[ASN][1000 genomes]
rs7651391	1.00[ASN][1000 genomes]
rs9288929	0.87[AFR][1000 genomes]
rs9631450	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs9850851	0.86[YRI][hapmap];0.85[AFR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111480200-111492000	Enhancers	Liver	Liver
2	chr3:111486800-111490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:111487200-111489800	Enhancers	Fetal Heart	heart
4	chr3:111487200-111490000	Enhancers	Fetal Muscle Leg	muscle
5	chr3:111487800-111493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:111487800-111521000	Weak transcription	Gastric	stomach
7	chr3:111488000-111489800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:111488000-111489800	Weak transcription	Pancreas	Pancrea
9	chr3:111488000-111493000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:111488000-111493400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:111488000-111501400	Weak transcription	Psoas Muscle	Psoas
12	chr3:111488400-111490000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:111488400-111496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:111488800-111489800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:111489000-111495200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:111489200-111492400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:111489200-111492400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:111489400-111492400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:111489400-111500600	Weak transcription	Fetal Lung	lung
20	chr3:111489600-111489800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:111489600-111489800	Enhancers	NHLF	lung
22	chr3:111489600-111490400	Enhancers	Fetal Muscle Trunk	muscle

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