Variant report

Variant	rs12480424
Chromosome Location	chr20:11285578-11285579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11905486	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11906214	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11907452	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11908191	0.85[ASN][1000 genomes]
rs12480182	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12480631	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12481555	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57261719	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59917750	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6033111	0.95[ASN][1000 genomes]
rs6074269	0.85[ASN][1000 genomes]
rs6074270	0.85[ASN][1000 genomes]
rs73243912	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73243938	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73261510	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261514	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261517	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73261522	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73261550	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7345151	0.95[ASN][1000 genomes]
rs8118110	1.00[AMR][1000 genomes];0.95[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	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv458869	chr20:11271614-11306751	Enhancers Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv585417	chr20:11271614-11306751	Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 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	chr20:11282800-11286000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:11285400-11286400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:11285400-11286600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:11285400-11286800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:11285400-11287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:11285400-11287000	Enhancers	NHEK	skin
7	chr20:11285400-11287200	Enhancers	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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