Variant report

Variant	rs28690891
Chromosome Location	chr3:49244293-49244294
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10049462	0.81[AFR][1000 genomes]
rs10154895	0.81[AFR][1000 genomes]
rs11720460	0.81[AFR][1000 genomes]
rs13068038	0.81[AFR][1000 genomes]
rs13077498	0.81[AFR][1000 genomes]
rs34343820	0.81[AFR][1000 genomes]
rs35060561	0.81[AFR][1000 genomes]
rs67286839	0.81[AFR][1000 genomes]
rs9311440	1.00[AMR][1000 genomes]
rs9828212	1.00[AMR][1000 genomes]
rs9862483	0.81[AFR][1000 genomes]
rs9880088	0.81[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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1008750	chr3:49208815-49362401	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49237600-49255600	Weak transcription	Left Ventricle	heart
2	chr3:49237800-49248400	Weak transcription	Fetal Stomach	stomach
3	chr3:49237800-49251000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:49237800-49251200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:49238200-49245600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:49238200-49248600	Weak transcription	Osteobl	bone
7	chr3:49238200-49249800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:49238200-49251000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:49238200-49251000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:49238200-49251000	Weak transcription	NHLF	lung
11	chr3:49238200-49255400	Weak transcription	Right Ventricle	heart
12	chr3:49239200-49245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:49239400-49251000	Weak transcription	Ovary	ovary
14	chr3:49241600-49245600	Weak transcription	Adipose Nuclei	Adipose
15	chr3:49241800-49245600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:49243200-49244800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:49243200-49249600	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:49243200-49255200	Weak transcription	Fetal Heart	heart
19	chr3:49243400-49251200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:49244200-49246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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