Variant report

Variant	rs4429125
Chromosome Location	chr12:43063536-43063537
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4144460	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4362199	0.95[ASN][1000 genomes]
rs4537821	0.87[ASN][1000 genomes]
rs4590937	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4429125	ABCD2	cis	cerebellum	SCAN
rs4429125	PDZRN4	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43056600-43069200	Weak transcription	Right Atrium	heart
2	chr12:43060400-43064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:43061200-43067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:43062000-43065400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:43062000-43077800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:43062600-43063600	Flanking Active TSS	Fetal Heart	heart
7	chr12:43062600-43064200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:43062800-43063800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:43062800-43064400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:43063200-43063600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:43063200-43063600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:43063200-43063600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:43063200-43063600	Enhancers	Fetal Lung	lung
14	chr12:43063200-43063600	Enhancers	NH-A	brain
15	chr12:43063200-43063800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:43063200-43063800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:43063200-43064000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:43063200-43064000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:43063200-43064000	Enhancers	HUVEC	blood vessel
20	chr12:43063200-43064200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:43063200-43064400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:43063400-43063600	Enhancers	HSMMtube	muscle
23	chr12:43063400-43064000	Enhancers	HSMM	muscle

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