Variant report

Variant	rs11112453
Chromosome Location	chr12:105689523-105689524
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105683253..105685363-chr12:105687997..105690070,2	K562	blood:
2	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10083056	0.97[ASN][1000 genomes]
rs10083061	0.97[ASN][1000 genomes]
rs10083199	0.96[ASN][1000 genomes]
rs10735400	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735402	0.96[ASN][1000 genomes]
rs10746014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778390	0.97[ASN][1000 genomes]
rs10778391	0.97[ASN][1000 genomes]
rs10861381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861382	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861386	0.99[ASN][1000 genomes]
rs10861387	0.99[ASN][1000 genomes]
rs10861390	0.97[ASN][1000 genomes]
rs10861391	0.97[ASN][1000 genomes]
rs10861393	0.97[ASN][1000 genomes]
rs10861395	0.97[ASN][1000 genomes]
rs10861397	0.97[ASN][1000 genomes]
rs11112457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112458	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112459	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112460	0.97[ASN][1000 genomes]
rs1344780	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2163719	0.97[ASN][1000 genomes]
rs6539203	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539204	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6539206	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs7298167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299882	0.97[ASN][1000 genomes]
rs7300095	0.97[ASN][1000 genomes]
rs7300376	0.97[ASN][1000 genomes]
rs7300512	0.97[ASN][1000 genomes]
rs7302933	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305292	0.97[ASN][1000 genomes]
rs7305413	0.97[ASN][1000 genomes]
rs7311273	0.97[ASN][1000 genomes]
rs7312484	0.95[ASN][1000 genomes]
rs7961016	0.97[ASN][1000 genomes]
rs7966786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669597	0.99[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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11112453	ALDH1L2	cis	cerebellum	SCAN
rs11112453	TDG	cis	parietal	SCAN
rs11112453	C12orf75	cis	cerebellum	SCAN
rs11112453	RAB18	trans	parietal	SCAN
rs11112453	POLR3B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105687000-105692200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:105688400-105692000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105688600-105689600	Enhancers	Placenta	Placenta
4	chr12:105688600-105690800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:105688800-105690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:105688800-105690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:105689000-105691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:105689000-105691600	Weak transcription	A549	lung
9	chr12:105689400-105689800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links