Variant report

Variant	rs11778957
Chromosome Location	chr8:54496862-54496863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10958374	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10958387	0.85[EUR][1000 genomes]
rs11774639	0.86[EUR][1000 genomes]
rs11776780	0.80[EUR][1000 genomes]
rs11778944	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11781639	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11783135	0.95[EUR][1000 genomes]
rs11785567	0.80[EUR][1000 genomes]
rs11787275	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12155632	0.85[EUR][1000 genomes]
rs12545078	0.94[EUR][1000 genomes]
rs12549792	0.94[EUR][1000 genomes]
rs13263182	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13266530	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13267322	0.94[EUR][1000 genomes]
rs13268090	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13275975	0.95[EUR][1000 genomes]
rs1551912	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17294749	0.83[LWK][hapmap]
rs35341975	0.94[EUR][1000 genomes]
rs7464047	0.86[EUR][1000 genomes]
rs7815156	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813750	chr8:54471135-54528984	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11778957	ATP6V1H	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54496800-54500200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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