Variant report

Variant	rs16938253
Chromosome Location	chr11:8500380-8500381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs1026021	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10500703	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap]
rs10743073	0.94[CEU][hapmap];0.98[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap]
rs10743084	0.84[GIH][hapmap];0.90[MEX][hapmap]
rs10840057	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11517715	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12295855	0.94[CEU][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12577287	0.90[CEU][hapmap]
rs12787407	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12787554	0.90[MEX][hapmap]
rs12791925	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12791928	0.88[ASN][1000 genomes]
rs12794463	0.92[ASN][1000 genomes]
rs12808779	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs17328992	1.00[LWK][hapmap]
rs1867810	0.94[CEU][hapmap]
rs2100067	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2121313	1.00[CHB][hapmap]
rs2166470	0.94[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs2311392	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34009921	0.83[EUR][1000 genomes]
rs34059271	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34413282	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34413622	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35091649	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35807094	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3942866	0.84[MEX][hapmap]
rs57757082	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67191473	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71474991	0.83[EUR][1000 genomes]
rs72855149	0.85[EUR][1000 genomes]
rs7924477	0.90[EUR][1000 genomes]
rs7931834	0.94[CEU][hapmap];0.93[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7947230	0.86[GIH][hapmap];0.90[MEX][hapmap]
rs7952429	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv32551	chr11:8457023-8534642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs16938253	SNORA45	cis	parietal	SCAN
rs16938253	RPL27A	cis	parietal	SCAN
rs16938253	SNORA45	cis	cerebellum	SCAN
rs16938253	AMPD3	cis	parietal	SCAN
rs16938253	RPL27A	cis	cerebellum	SCAN
rs16938253	OR56B4	cis	parietal	SCAN
rs16938253	HBB	cis	cerebellum	SCAN
rs16938253	STK33	cis	cerebellum	SCAN
rs16938253	TRIM66	cis	Whole Blood	GTEx
rs16938253	OR52E2	cis	parietal	SCAN
rs16938253	CSNK2A1P	cis	cerebellum	SCAN
rs16938253	TUB	cis	parietal	SCAN
rs16938253	STK33	cis	parietal	SCAN
rs16938253	OR10A4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8499200-8500400	Enhancers	GM12878-XiMat	blood
2	chr11:8499600-8500400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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