Variant report

Variant	rs8011958
Chromosome Location	chr14:79661327-79661328
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11622061	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs11625721	0.92[CEU][hapmap]
rs11625723	0.92[CEU][hapmap]
rs12432016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12432076	0.81[CHB][hapmap]
rs12880228	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs12891595	0.86[CHB][hapmap]
rs2219848	0.85[CHB][hapmap]
rs2370930	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2370934	1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2370935	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4636834	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs4899736	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs6574499	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs7151711	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs7156245	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs72627190	0.96[ASN][1000 genomes]
rs766023	0.86[CHB][hapmap]
rs8008994	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs8011043	0.91[CEU][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8015611	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs8016735	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8017399	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8019231	0.84[AMR][1000 genomes];0.92[ASN][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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1040837	chr14:79583862-79711565	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv827002	chr14:79654898-79665722	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
5	esv2757579	chr14:79658731-79665685	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
6	esv2760001	chr14:79658731-79665685	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8011958	ANGEL1	cis	cerebellum	SCAN
rs8011958	VASH1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79661000-79662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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