Variant report

Variant	rs1407753
Chromosome Location	chr13:53536941-53536942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12427518	0.83[ASN][1000 genomes]
rs1323105	0.83[ASN][1000 genomes]
rs1407751	0.97[ASN][1000 genomes]
rs1407752	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052924	0.91[ASN][1000 genomes]
rs1885849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2018272	0.91[ASN][1000 genomes]
rs2181473	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408694	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4301922	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301924	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562966	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562967	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026013	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57281475	0.83[ASN][1000 genomes]
rs58811753	0.97[ASN][1000 genomes]
rs59849453	0.97[ASN][1000 genomes]
rs67378042	0.97[ASN][1000 genomes]
rs68176651	0.97[ASN][1000 genomes]
rs7140120	0.82[EUR][1000 genomes]
rs7320217	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7323033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334665	0.92[ASN][1000 genomes]
rs7337967	0.87[ASN][1000 genomes]
rs9591483	0.91[ASN][1000 genomes]
rs9596729	0.83[ASN][1000 genomes]
rs9652206	0.90[ASN][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53532800-53541000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:53533800-53540800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53534600-53538000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:53534800-53539000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:53535000-53538600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:53536200-53537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:53536400-53537600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:53536600-53537600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:53536800-53538800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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