Variant report

Variant	rs12480222
Chromosome Location	chr20:11450813-11450814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12479989	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12480062	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12481138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12481579	0.80[AMR][1000 genomes]
rs12481718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2327416	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57297338	0.84[ASN][1000 genomes]
rs59106237	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6033133	0.83[AMR][1000 genomes]
rs6033140	0.83[AMR][1000 genomes]
rs6040662	0.83[AMR][1000 genomes]
rs60485829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73245683	0.95[AMR][1000 genomes]
rs73245698	0.95[AMR][1000 genomes]
rs73247707	0.95[AMR][1000 genomes]
rs73247709	0.83[AMR][1000 genomes]
rs73247714	0.95[AMR][1000 genomes]
rs73247719	0.83[AMR][1000 genomes]
rs73247729	1.00[AMR][1000 genomes]
rs73247735	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247736	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247739	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247748	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73247759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73247785	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73250009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73250010	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11440200-11454400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11448800-11451800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:11449000-11457800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:11449800-11453600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr20:11450200-11451600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:11450400-11451600	Enhancers	Colon Smooth Muscle	Colon
7	chr20:11450600-11451000	Weak transcription	Esophagus	oesophagus
8	chr20:11450800-11451400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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