Variant report

Variant	rs57626952
Chromosome Location	chr15:34512614-34512615
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34501646..34504292-chr15:34510886..34512885,2	K562	blood:
2	chr15:34512144..34514985-chr15:34525295..34527428,3	K562	blood:
3	chr15:34510862..34512619-chr15:34536843..34538458,2	K562	blood:
4	chr15:34499403..34506943-chr15:34508287..34513350,9	K562	blood:

Variant related genes	Relation type
ENSG00000140199	Chromatin interaction
ENSG00000134152	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1133154	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11631981	0.84[ASN][1000 genomes]
rs12050753	0.85[ASN][1000 genomes]
rs12591315	0.84[ASN][1000 genomes]
rs12592460	0.82[ASN][1000 genomes]
rs16958878	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17236763	0.86[ASN][1000 genomes]
rs17236777	0.86[ASN][1000 genomes]
rs17236784	0.85[ASN][1000 genomes]
rs17236798	0.85[ASN][1000 genomes]
rs17236819	0.85[ASN][1000 genomes]
rs17817806	0.85[ASN][1000 genomes]
rs2244040	0.83[ASN][1000 genomes]
rs2290940	0.84[ASN][1000 genomes]
rs2290941	0.84[ASN][1000 genomes]
rs2290942	0.85[ASN][1000 genomes]
rs28375867	0.80[ASN][1000 genomes]
rs28418847	0.80[ASN][1000 genomes]
rs34187931	0.80[ASN][1000 genomes]
rs4238572	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56761496	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57494441	0.85[ASN][1000 genomes]
rs57834992	0.80[ASN][1000 genomes]
rs59023791	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59091709	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59209438	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59712831	0.85[ASN][1000 genomes]
rs60165224	0.85[ASN][1000 genomes]
rs60604568	0.85[ASN][1000 genomes]
rs60905714	0.80[ASN][1000 genomes]
rs61549125	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6495625	0.81[ASN][1000 genomes]
rs6495639	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6495646	0.84[ASN][1000 genomes]
rs7168619	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7168761	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7173618	0.80[ASN][1000 genomes]
rs7178002	0.80[ASN][1000 genomes]
rs7180024	0.80[ASN][1000 genomes]
rs7180920	0.82[ASN][1000 genomes]
rs73380126	0.80[ASN][1000 genomes]
rs73380135	0.80[ASN][1000 genomes]
rs73380141	0.80[ASN][1000 genomes]
rs73380157	0.80[ASN][1000 genomes]
rs73386033	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73386037	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73386038	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73388003	0.85[ASN][1000 genomes]
rs73388027	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73388049	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8040071	0.81[ASN][1000 genomes]
rs9944206	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs57626952	NOP10	cis	Muscle Skeletal	GTEx
rs57626952	SLC12A6	cis	Thyroid	GTEx
rs57626952	NOP10	cis	Artery Tibial	GTEx
rs57626952	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs57626952	NOP10	cis	Heart Left Ventricle	GTEx
rs57626952	NOP10	cis	Esophagus Mucosa	GTEx
rs57626952	NOP10	cis	Thyroid	GTEx
rs57626952	NOP10	cis	Esophagus Muscularis	GTEx
rs57626952	NOP10	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34507200-34516200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:34510200-34515600	Weak transcription	K562	blood
3	chr15:34510200-34516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:34510400-34516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:34510400-34516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:34510400-34516000	Weak transcription	NHEK	skin
7	chr15:34510400-34516200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:34510400-34516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:34510400-34516200	Weak transcription	NHDF-Ad	bronchial
10	chr15:34510600-34516000	Weak transcription	Hela-S3	cervix
11	chr15:34511800-34516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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