Variant report

Variant	rs12826830
Chromosome Location	chr12:41461926-41461927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11179652	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179873	0.87[ASN][1000 genomes]
rs11609636	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12297122	0.87[EUR][1000 genomes]
rs12297355	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12299059	0.87[ASN][1000 genomes]
rs12305437	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312555	1.00[ASN][1000 genomes]
rs12312616	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319487	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12319773	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12321608	0.81[EUR][1000 genomes]
rs12322831	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12809837	0.81[EUR][1000 genomes]
rs12811839	0.81[EUR][1000 genomes]
rs12816667	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818816	0.87[ASN][1000 genomes]
rs12824182	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13340827	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13340830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs278906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35850345	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3794251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794253	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56695779	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57025360	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61924414	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61924417	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305416	0.81[EUR][1000 genomes]
rs73279804	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7958656	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980318	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41455400-41462000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:41458000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:41458000-41474000	Weak transcription	Ovary	ovary
5	chr12:41459600-41463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:41461800-41462000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:41461800-41462400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:41461800-41462400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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