Variant report

Variant	rs917722
Chromosome Location	chr7:121478468-121478469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10225186	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10270557	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953948	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953949	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953950	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11543745	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982728	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669706	0.88[JPT][hapmap]
rs12671267	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12673871	0.95[ASN][1000 genomes]
rs16870718	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1916885	0.88[JPT][hapmap]
rs2191783	0.88[JPT][hapmap]
rs35807933	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801377	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs3801380	0.81[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs58748383	0.83[ASN][1000 genomes]
rs6949816	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6971645	0.88[JPT][hapmap]
rs73717719	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740965	0.81[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap]
rs7778688	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7797043	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7797092	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798109	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641678	0.88[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs917722	TSPAN12	cis	lymphoblastoid	seeQTL
rs917722	VSNL1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121472800-121479000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:121476400-121479000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121476400-121479200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:121476600-121479000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:121476600-121479200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:121477600-121478800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:121477800-121478800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:121477800-121479000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:121477800-121479000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:121477800-121479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:121478400-121479200	Weak transcription	Fetal Brain Male	brain

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