Variant report

Variant	rs11975240
Chromosome Location	chr7:145654466-145654467
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10458274	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11972095	1.00[ASN][1000 genomes]
rs11972487	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11975868	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11977340	0.95[ASN][1000 genomes]
rs11977410	0.95[ASN][1000 genomes]
rs11982943	0.90[ASN][1000 genomes]
rs12112237	0.87[ASN][1000 genomes]
rs12154288	0.95[ASN][1000 genomes]
rs12666281	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17169902	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177748	0.95[ASN][1000 genomes]
rs2372461	0.90[ASN][1000 genomes]
rs4534070	0.87[ASN][1000 genomes]
rs55637642	0.98[ASN][1000 genomes]
rs55764478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55844645	0.95[ASN][1000 genomes]
rs55910573	0.98[ASN][1000 genomes]
rs56051867	0.98[ASN][1000 genomes]
rs56055653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56107552	0.98[ASN][1000 genomes]
rs56198146	0.95[ASN][1000 genomes]
rs56662540	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56747015	0.87[ASN][1000 genomes]
rs56775210	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57679157	1.00[ASN][1000 genomes]
rs58456605	0.90[ASN][1000 genomes]
rs58546376	0.90[ASN][1000 genomes]
rs58869616	0.87[ASN][1000 genomes]
rs59450195	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61044500	0.86[ASN][1000 genomes]
rs61593228	0.82[EUR][1000 genomes]
rs6464704	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6952571	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6954312	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6956829	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960698	0.95[ASN][1000 genomes]
rs6966233	0.87[ASN][1000 genomes]
rs6978472	0.87[ASN][1000 genomes]
rs6978905	0.87[ASN][1000 genomes]
rs7780753	0.84[GIH][hapmap]
rs7781219	0.90[ASN][1000 genomes]
rs7788691	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7792245	0.95[ASN][1000 genomes]
rs7802089	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs949729	0.95[ASN][1000 genomes]
rs9655683	0.93[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs9918491	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754040	chr7:145303352-145698352	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2755386	chr7:145303352-145698352	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv889385	chr7:145617629-145803095	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11975240	OR9A2	cis	parietal	SCAN
rs11975240	OR9A2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145654400-145655000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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