Variant report

Variant	rs1450048
Chromosome Location	chr3:132912300-132912301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10460836	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1197282	0.81[CHD][hapmap]
rs1201674	0.82[CHB][hapmap]
rs12054037	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12493846	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12639218	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs16840105	0.81[CHD][hapmap]
rs16840179	0.81[CHD][hapmap]
rs1708368	0.81[CHD][hapmap]
rs1965220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992994	0.81[CHD][hapmap]
rs2060639	0.81[CHD][hapmap]
rs28731476	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4130893	0.80[ASN][1000 genomes]
rs4373064	0.90[ASN][1000 genomes]
rs4854573	0.89[ASN][1000 genomes]
rs4854576	0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs4854699	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854708	0.83[CHD][hapmap]
rs56325413	0.83[ASN][1000 genomes]
rs62280318	0.82[ASN][1000 genomes]
rs62280319	0.85[ASN][1000 genomes]
rs62280320	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62280327	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132909800-132913600	Weak transcription	Fetal Brain Female	brain
2	chr3:132910800-132912400	Enhancers	NH-A	brain
3	chr3:132911600-132912600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:132911600-132912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:132911600-132917400	Weak transcription	Spleen	Spleen
6	chr3:132911800-132919000	Weak transcription	HSMMtube	muscle
7	chr3:132912000-132912400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:132912000-132912400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:132912000-132919000	Weak transcription	Fetal Lung	lung
10	chr3:132912000-132919200	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links