Variant report

Variant	rs11112452
Chromosome Location	chr12:105689318-105689319
allele	C/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: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10161513	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112410	1.00[ASN][1000 genomes]
rs11112522	1.00[ASN][1000 genomes]
rs11112526	1.00[ASN][1000 genomes]
rs11112530	1.00[ASN][1000 genomes]
rs11112531	1.00[ASN][1000 genomes]
rs11112532	1.00[ASN][1000 genomes]
rs12299366	1.00[ASN][1000 genomes]
rs12299391	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	1.00[ASN][1000 genomes]
rs12304384	1.00[ASN][1000 genomes]
rs12305766	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12311156	1.00[ASN][1000 genomes]
rs12317637	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	1.00[ASN][1000 genomes]
rs12321518	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037098	1.00[ASN][1000 genomes]
rs58780154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	1.00[ASN][1000 genomes]
rs60999193	1.00[ASN][1000 genomes]
rs7132816	1.00[ASN][1000 genomes]
rs7133728	1.00[ASN][1000 genomes]
rs7136270	1.00[ASN][1000 genomes]
rs7136306	1.00[ASN][1000 genomes]
rs7300130	1.00[ASN][1000 genomes]
rs7302842	1.00[ASN][1000 genomes]
rs7305406	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7306679	1.00[ASN][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	1.00[ASN][1000 genomes]
rs73181860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7971630	1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs9971795	1.00[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

No data

Chromatin state (count:10 , 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	chr12:105688600-105689400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:105688600-105689600	Enhancers	Placenta	Placenta
5	chr12:105688600-105690800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:105688800-105690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:105688800-105690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:105689000-105689400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:105689000-105691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:105689000-105691600	Weak transcription	A549	lung

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