Variant report

Variant	rs9648932
Chromosome Location	chr7:104316059-104316060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10233987	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10279337	0.82[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10279375	0.91[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10280745	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11767604	0.90[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11767619	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12531723	0.84[GIH][hapmap]
rs12705261	0.84[GIH][hapmap]
rs4512324	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6944469	0.91[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945225	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][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	nsv967437	chr7:104312412-104323208	Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9648932	AP1S1	cis	cerebellum	SCAN
rs9648932	ATXN7L1	cis	cerebellum	SCAN
rs9648932	PCOLCE	cis	parietal	SCAN
rs9648932	BCAP29	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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

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