Variant report

Variant	rs4730037
Chromosome Location	chr7:104342737-104342738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10233987	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10244859	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10249869	0.86[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10256346	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10273020	0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10279337	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs10279375	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10464615	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11767604	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11767619	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11768712	1.00[CEU][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11982043	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12531723	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12534285	0.97[ASN][1000 genomes]
rs12535033	0.85[CHB][hapmap];0.85[GIH][hapmap];0.97[ASN][1000 genomes]
rs12536801	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12705261	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12705263	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12705264	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13241253	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13242612	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17269890	0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4255068	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4311596	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4419737	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4496900	0.82[JPT][hapmap]
rs4512324	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4566971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4624947	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4730035	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466014	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6944469	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6945225	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6962309	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7782285	0.97[ASN][1000 genomes]
rs7801294	0.97[ASN][1000 genomes]
rs9885990	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs9886292	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730037	ATXN7L1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104338400-104342800	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:104341800-104343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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