Variant report

Variant	rs7937250
Chromosome Location	chr11:18210815-18210816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11024532	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11024542	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11024543	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11024544	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11024545	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11024546	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11024547	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11024548	0.93[AMR][1000 genomes]
rs11024549	0.96[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11024550	0.87[AMR][1000 genomes]
rs12365565	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17567204	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs2198705	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2403250	1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs2403251	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2468826	0.82[JPT][hapmap]
rs6486412	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6486413	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6486414	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7107957	1.00[JPT][hapmap]
rs7121780	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7123817	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7936382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9737248	0.93[AMR][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7937250	SAAL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18210600-18211200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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