Variant report

Variant	rs12817133
Chromosome Location	chr12:39414371-39414372
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	chr12:39406167..39408502-chr12:39412272..39414594,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506129	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10506132	0.87[ASN][1000 genomes]
rs10506133	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10506134	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876410	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11170431	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11170433	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11610886	0.90[ASN][1000 genomes]
rs12809435	0.90[ASN][1000 genomes]
rs12812262	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12813151	0.90[ASN][1000 genomes]
rs12816546	0.90[ASN][1000 genomes]
rs12818844	0.80[ASN][1000 genomes]
rs12827197	0.90[ASN][1000 genomes]
rs1349257	0.90[ASN][1000 genomes]
rs1375795	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1562728	0.90[ASN][1000 genomes]
rs17465893	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17467376	0.87[ASN][1000 genomes]
rs17523988	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2218762	0.90[ASN][1000 genomes]
rs2388174	0.90[ASN][1000 genomes]
rs2388175	0.90[ASN][1000 genomes]
rs2388178	0.90[ASN][1000 genomes]
rs2388179	0.90[ASN][1000 genomes]
rs2892450	0.87[ASN][1000 genomes]
rs2892451	0.90[ASN][1000 genomes]
rs3914597	0.90[ASN][1000 genomes]
rs4254106	0.90[ASN][1000 genomes]
rs4411311	0.90[ASN][1000 genomes]
rs4438082	0.90[ASN][1000 genomes]
rs61939594	0.90[ASN][1000 genomes]
rs7308161	0.90[ASN][1000 genomes]
rs7308278	0.90[ASN][1000 genomes]
rs7952765	0.90[ASN][1000 genomes]
rs7954830	0.80[ASN][1000 genomes]
rs7958118	0.90[ASN][1000 genomes]
rs7967295	0.90[ASN][1000 genomes]
rs7968566	0.90[ASN][1000 genomes]
rs7970850	0.90[ASN][1000 genomes]
rs7972590	0.90[ASN][1000 genomes]
rs7976609	0.90[ASN][1000 genomes]
rs925827	0.90[ASN][1000 genomes]
rs925828	0.90[ASN][1000 genomes]
rs925829	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	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
3	nsv899009	chr12:39284077-39441096	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39414200-39414400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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