Variant report

Variant	rs11611172
Chromosome Location	chr12:39441250-39441251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506132	0.83[EUR][1000 genomes]
rs10506135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169908	0.81[CEU][hapmap]
rs11608344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608857	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610886	0.80[EUR][1000 genomes]
rs11612292	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613411	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809957	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810545	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812262	0.91[CEU][hapmap];0.85[CHB][hapmap]
rs12815753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816546	0.80[EUR][1000 genomes]
rs12817946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818844	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12825680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827197	0.80[EUR][1000 genomes]
rs12827288	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12833449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349257	0.80[EUR][1000 genomes]
rs1562728	0.80[EUR][1000 genomes]
rs17126865	0.81[ASN][1000 genomes]
rs17465893	0.85[CHB][hapmap]
rs17467376	0.83[EUR][1000 genomes]
rs2218762	0.80[EUR][1000 genomes]
rs2388060	0.81[CEU][hapmap]
rs2388174	0.80[EUR][1000 genomes]
rs2388175	0.80[EUR][1000 genomes]
rs2388318	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34836816	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911962	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3914597	0.80[EUR][1000 genomes]
rs4254106	0.80[EUR][1000 genomes]
rs4768548	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967776	0.82[CEU][hapmap]
rs7970850	0.80[EUR][1000 genomes]
rs7971416	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972629	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976609	0.80[EUR][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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:39437200-39452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:39437600-39441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:39441000-39441400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:39441200-39441400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39441200-39441800	Enhancers	Brain Hippocampus Middle	brain
6	chr12:39441200-39442000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:39441200-39442000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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