Variant report

Variant	rs11776780
Chromosome Location	chr8:54565013-54565014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54563689..54565236-chr8:54567231..54570214,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10958374	0.82[EUR][1000 genomes]
rs10958387	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10958389	0.81[AFR][1000 genomes]
rs10958390	0.81[AFR][1000 genomes]
rs11774639	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778944	0.82[EUR][1000 genomes]
rs11778957	0.80[EUR][1000 genomes]
rs11781639	0.83[EUR][1000 genomes]
rs11783135	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11785567	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11787275	0.82[EUR][1000 genomes]
rs12155632	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12545078	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12549792	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13249111	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13255239	0.81[AFR][1000 genomes]
rs13263182	0.81[EUR][1000 genomes]
rs13266530	0.83[EUR][1000 genomes]
rs13267322	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13268090	0.83[EUR][1000 genomes]
rs13275975	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13276413	0.86[ASN][1000 genomes]
rs13282375	0.80[EUR][1000 genomes]
rs1551912	0.82[EUR][1000 genomes]
rs35341975	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6473880	0.96[ASN][1000 genomes]
rs7461411	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7461464	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7464047	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815156	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7817444	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7817963	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1830188	chr8:54520350-54601462	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1020081	chr8:54528266-54592073	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv611381	chr8:54528760-54589344	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1030947	chr8:54535233-54592073	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11776780	ATP6V1H	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54555000-54569600	Weak transcription	Right Atrium	heart
2	chr8:54558200-54569800	Weak transcription	Aorta	Aorta
3	chr8:54562800-54569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54563400-54569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:54563400-54569400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:54564800-54565200	Enhancers	Fetal Heart	heart
7	chr8:54564800-54567000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:54565000-54566600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:54565000-54569400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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