Variant report

Variant	rs7848880
Chromosome Location	chr9:16028693-16028694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10810525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10962252	0.83[ASN][1000 genomes]
rs13298860	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13298936	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16933965	0.84[AFR][1000 genomes]
rs17353213	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66532067	0.81[EUR][1000 genomes]
rs9407712	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv892637	chr9:15926508-16060746	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949463	chr9:15970668-16377360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831521	chr9:15974174-16106565	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1025555	chr9:16022186-16064158	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7848880	C9orf93	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16022600-16031800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:16023600-16040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:16026000-16029600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:16026000-16033400	Enhancers	Osteobl	bone
5	chr9:16026200-16039200	Weak transcription	Adipose Nuclei	Adipose
6	chr9:16026400-16028800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:16026400-16033000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:16026400-16039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:16027000-16028800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:16027000-16029200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:16027000-16030600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:16027000-16031000	Enhancers	NH-A	brain
13	chr9:16027600-16029800	Enhancers	HSMMtube	muscle
14	chr9:16027600-16030800	Enhancers	HSMM	muscle
15	chr9:16027800-16028800	Enhancers	Fetal Stomach	stomach
16	chr9:16027800-16031200	Enhancers	NHDF-Ad	bronchial
17	chr9:16028000-16030000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16028200-16032000	Enhancers	NHLF	lung
19	chr9:16028200-16033000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:16028400-16028800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:16028600-16029000	Enhancers	Fetal Muscle Leg	muscle
22	chr9:16028600-16032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:16028600-16033000	Enhancers	HMEC	breast

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