Variant report

Variant	rs12348488
Chromosome Location	chr9:95150114-95150115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10115290	0.83[ASN][1000 genomes]
rs10116241	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10117627	0.80[ASN][1000 genomes]
rs10121495	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10283572	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10429459	0.82[ASN][1000 genomes]
rs10453241	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514815	0.82[ASN][1000 genomes]
rs1053441	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1053446	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10739927	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10761153	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10761154	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10761158	0.85[ASN][1000 genomes]
rs10761161	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10820964	0.82[EUR][1000 genomes]
rs10820969	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10820971	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10820986	0.80[AMR][1000 genomes]
rs10820988	0.80[AMR][1000 genomes]
rs10992291	0.81[EUR][1000 genomes]
rs10992322	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992340	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992347	0.85[ASN][1000 genomes]
rs1121979	0.81[EUR][1000 genomes]
rs1133908	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11789163	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11792342	0.84[EUR][1000 genomes]
rs11795122	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12335553	0.81[AMR][1000 genomes]
rs12343820	0.83[ASN][1000 genomes]
rs12353096	0.81[EUR][1000 genomes]
rs1535754	0.85[ASN][1000 genomes]
rs1924243	0.85[ASN][1000 genomes]
rs1924244	0.80[ASN][1000 genomes]
rs2007837	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025388	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2274966	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296667	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516567	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2516568	0.82[EUR][1000 genomes]
rs2761679	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2761681	0.82[EUR][1000 genomes]
rs3118008	0.86[ASN][1000 genomes]
rs3739606	0.83[ASN][1000 genomes]
rs3780347	0.82[ASN][1000 genomes]
rs4744133	0.85[ASN][1000 genomes]
rs4744134	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4744136	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6479416	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6479417	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479419	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6479420	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7020874	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7023004	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7026361	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7043152	0.81[EUR][1000 genomes]
rs7045409	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7047089	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs710162	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7847929	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7850432	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7853859	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7856204	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7860774	0.81[ASN][1000 genomes]
rs7863234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7863406	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7864630	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7868640	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7869742	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7872375	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7873932	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8067	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9299404	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs987554	0.81[AMR][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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1053205	chr9:95119195-95182612	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12348488	NOL8	Cis_1M	lymphoblastoid	RTeQTL
rs12348488	OGN	cis	Nerve Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95138000-95152400	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:95139000-95163200	Weak transcription	Aorta	Aorta
3	chr9:95142000-95159400	Weak transcription	Fetal Intestine Large	intestine
4	chr9:95142200-95165600	Weak transcription	Fetal Thymus	thymus
5	chr9:95144200-95158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:95145000-95163800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:95146800-95152400	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:95146800-95152400	Weak transcription	Fetal Lung	lung
9	chr9:95147600-95155000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:95148000-95164000	Weak transcription	Adipose Nuclei	Adipose
11	chr9:95148400-95156000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:95148400-95158800	Weak transcription	Ovary	ovary
13	chr9:95148400-95163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:95148600-95151000	Weak transcription	Dnd41	blood
15	chr9:95149000-95151000	Weak transcription	HMEC	breast
16	chr9:95149000-95152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:95149000-95152400	Weak transcription	NHEK	skin
18	chr9:95149000-95152600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:95149800-95151000	Weak transcription	Hela-S3	cervix
20	chr9:95150000-95151200	Strong transcription	Fetal Stomach	stomach

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