Variant report

Variant	rs2894523
Chromosome Location	chr7:108649696-108649697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10236882	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247976	0.83[ASN][1000 genomes]
rs10252319	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10254589	0.83[ASN][1000 genomes]
rs10273276	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534710	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235478	0.83[ASN][1000 genomes]
rs13241308	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1513918	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1849639	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1913409	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158139	0.83[ASN][1000 genomes]
rs2189046	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396044	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727719	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727720	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730344	0.84[ASN][1000 genomes]
rs4730352	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6942914	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949987	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6951182	0.88[ASN][1000 genomes]
rs757151	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769306	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792565	0.89[EUR][1000 genomes]
rs7795429	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808828	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9640718	0.84[ASN][1000 genomes]
rs978678	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv608075	chr7:108592224-108657719	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757235	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759551	chr7:108595645-108660398	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3332528	chr7:108649668-108649875	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2894523	ATXN7L1	cis	cerebellum	SCAN
rs2894523	ATP6V0D2	trans	cerebellum	SCAN
rs2894523	FLJ36031	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108648000-108649800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:108649600-108650600	Active TSS	Fetal Lung	lung

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