Variant report

Variant	rs41851
Chromosome Location	chr7:69013219-69013220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014382	0.80[AMR][1000 genomes]
rs10950191	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12333508	0.83[ASN][1000 genomes]
rs12531914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669765	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1468588	0.83[ASN][1000 genomes]
rs210603	0.80[AMR][1000 genomes]
rs2253711	0.95[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533432	0.80[AMR][1000 genomes]
rs2533434	0.80[AMR][1000 genomes]
rs2533440	0.83[ASN][1000 genomes]
rs2533446	0.83[ASN][1000 genomes]
rs2533447	0.83[ASN][1000 genomes]
rs2533456	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2851485	0.83[ASN][1000 genomes]
rs2851488	0.80[AMR][1000 genomes]
rs2851500	0.83[ASN][1000 genomes]
rs2851504	0.81[ASN][1000 genomes]
rs2851509	0.83[ASN][1000 genomes]
rs2851512	0.83[ASN][1000 genomes]
rs2851517	0.80[AMR][1000 genomes]
rs41855	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41858	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585282	0.81[JPT][hapmap]
rs588004	0.80[AMR][1000 genomes]
rs595681	0.81[JPT][hapmap]
rs610930	0.81[JPT][hapmap]
rs611052	0.80[AMR][1000 genomes]
rs624626	0.80[AMR][1000 genomes]
rs674865	0.80[AMR][1000 genomes]
rs720056	0.83[ASN][1000 genomes]
rs917616	0.80[AMR][1000 genomes]
rs9692258	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs981291	0.83[ASN][1000 genomes]
rs988282	0.83[ASN][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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41851	AUTS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69000000-69014600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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