Variant report

Variant	rs10760802
Chromosome Location	chr9:104480835-104480836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10760806	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10760807	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10819980	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12552239	0.86[EUR][1000 genomes]
rs1337695	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1337696	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1361103	0.85[EUR][1000 genomes]
rs2050640	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2067056	0.89[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2067057	0.85[EUR][1000 genomes]
rs2184959	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2485522	0.82[EUR][1000 genomes]
rs2485525	0.83[EUR][1000 genomes]
rs2485528	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2485533	0.81[EUR][1000 genomes]
rs2485534	0.80[EUR][1000 genomes]
rs2506362	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3983721	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4278209	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4474083	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6479063	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7020375	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7848096	0.83[EUR][1000 genomes]
rs7862148	0.82[ASN][1000 genomes]
rs7863180	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7872456	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1046590	chr9:104450624-104848588	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10760802	C9orf125	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104479000-104482400	Enhancers	Fetal Muscle Leg	muscle
2	chr9:104479800-104481200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:104480400-104481000	Enhancers	Fetal Kidney	kidney
4	chr9:104480800-104491400	Weak transcription	Liver	Liver

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