Variant report

Variant	rs6794137
Chromosome Location	chr3:132888446-132888447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12695588	0.85[ASN][1000 genomes]
rs13077843	1.00[JPT][hapmap]
rs13323117	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1450049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1450050	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1450054	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1868602	0.81[ASN][1000 genomes]
rs28536096	0.81[ASN][1000 genomes]
rs28539256	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28552867	0.85[ASN][1000 genomes]
rs28672850	0.81[ASN][1000 genomes]
rs6781596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6792070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6792137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6809255	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs71315690	0.85[ASN][1000 genomes]
rs7618220	1.00[JPT][hapmap]
rs9817924	0.93[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820287	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9837497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838197	0.85[ASN][1000 genomes]
rs9848953	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs9852954	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9852976	0.81[ASN][1000 genomes]
rs9853271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9858099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9877365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9877504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6794137	ASTE1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132879000-132888800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:132881400-132892000	Weak transcription	Fetal Lung	lung
3	chr3:132884600-132893800	Weak transcription	HSMM	muscle
4	chr3:132886200-132890600	Enhancers	Brain Germinal Matrix	brain
5	chr3:132886200-132891600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:132886400-132890000	Enhancers	Fetal Brain Male	brain
7	chr3:132886800-132891800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:132886800-132892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:132887600-132888600	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:132888000-132889200	Enhancers	Fetal Brain Female	brain
11	chr3:132888400-132889000	Active TSS	Pancreatic Islets	Pancreatic Islet

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