Variant report

Variant	rs1995343
Chromosome Location	chr11:16748468-16748469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10734249	0.89[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10741708	0.84[CEU][hapmap];0.92[CHB][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794768	0.91[EUR][1000 genomes]
rs12799800	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12799969	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12804277	0.91[EUR][1000 genomes]
rs1501451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1846936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967192	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2221243	0.89[EUR][1000 genomes]
rs34097789	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs34812104	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3802963	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3921675	0.92[EUR][1000 genomes]
rs4756860	0.85[EUR][1000 genomes]
rs4756862	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4757428	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4757431	0.81[EUR][1000 genomes]
rs4757432	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6486310	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6486312	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66670205	0.84[EUR][1000 genomes]
rs7110136	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7117140	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7125008	0.85[EUR][1000 genomes]
rs7125262	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7128484	0.93[EUR][1000 genomes]
rs7931915	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7939889	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7944906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1995343	C11orf58	cis	cerebellum	SCAN
rs1995343	TSG101	cis	cerebellum	SCAN
rs1995343	SLC6A5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16748200-16759400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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