Variant report

Variant	rs12385729
Chromosome Location	chr1:214912720-214912721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11805850	0.90[EUR][1000 genomes]
rs11805851	0.90[EUR][1000 genomes]
rs11809132	0.90[EUR][1000 genomes]
rs11811160	0.86[EUR][1000 genomes]
rs2885458	0.86[EUR][1000 genomes]
rs60354465	0.90[EUR][1000 genomes]
rs61818043	0.83[EUR][1000 genomes]
rs61818051	0.90[EUR][1000 genomes]
rs61819460	0.90[EUR][1000 genomes]
rs61819486	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61819487	0.98[EUR][1000 genomes]
rs61819488	0.86[EUR][1000 genomes]
rs61819489	0.86[EUR][1000 genomes]
rs61819492	0.86[EUR][1000 genomes]
rs6682081	0.90[EUR][1000 genomes]
rs6683858	0.90[EUR][1000 genomes]
rs6687999	0.86[EUR][1000 genomes]
rs6694811	0.90[EUR][1000 genomes]
rs73083694	0.90[EUR][1000 genomes]
rs73085810	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873166	chr1:214909095-214978078	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12385729	DNAJA1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214911600-214913200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:214912400-214913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:214912600-214913400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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