Variant report

Variant	rs73386033
Chromosome Location	chr15:34515969-34515970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr15:34515857-34517857	K562	blood:	n/a	chr15:34516985-34516996 chr15:34516988-34516998
2	UBTF	chr15:34515960-34516544	K562	blood:	n/a	n/a
3	MXI1	chr15:34515886-34518224	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr15:34515940-34516090	HAc	cerebellar:	n/a	n/a
5	CTCF	chr15:34515940-34516090	HVMF	connective:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34391770..34396248-chr15:34515474..34518631,5	K562	blood:
2	chr15:34392855..34396101-chr15:34515904..34518783,5	MCF-7	breast:
3	chr15:34515761..34518007-chr15:34659442..34662221,3	K562	blood:
4	chr15:34515223..34518649-chr15:34658701..34662221,4	K562	blood:
5	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
6	chr15:34515788..34518726-chr15:34518893..34520736,3	K562	blood:
7	chr15:34514547..34516145-chr15:34521296..34523064,2	K562	blood:
8	chr15:34497680..34504001-chr15:34514973..34521212,14	K562	blood:
9	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
10	chr15:34515594..34518445-chr15:34530011..34531536,2	K562	blood:
11	chr15:34392570..34395907-chr15:34514179..34517187,3	K562	blood:
12	chr15:34507877..34510107-chr15:34514805..34516525,2	K562	blood:
13	chr15:34507802..34510107-chr15:34514805..34516996,3	K562	blood:

No data

Variant related genes	Relation type
EMC4	TF binding region
ENSG00000176454	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000128463	Chromatin interaction
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1133154	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050753	0.95[ASN][1000 genomes]
rs16958878	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17236763	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236777	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17236784	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17236798	0.95[ASN][1000 genomes]
rs17236819	0.95[ASN][1000 genomes]
rs17817800	0.88[ASN][1000 genomes]
rs17817806	0.95[ASN][1000 genomes]
rs2244040	0.93[ASN][1000 genomes]
rs2290940	0.94[ASN][1000 genomes]
rs2290941	0.94[ASN][1000 genomes]
rs2290942	0.95[ASN][1000 genomes]
rs4238572	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4530104	0.85[ASN][1000 genomes]
rs4780231	0.83[ASN][1000 genomes]
rs4780232	0.83[ASN][1000 genomes]
rs4780233	0.89[ASN][1000 genomes]
rs4780234	0.88[ASN][1000 genomes]
rs56761496	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57494441	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57626952	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59023791	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091709	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59209438	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59712831	0.96[ASN][1000 genomes]
rs60165224	0.95[ASN][1000 genomes]
rs60604568	0.95[ASN][1000 genomes]
rs61549125	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495646	0.94[ASN][1000 genomes]
rs73386037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73386038	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388003	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73388020	0.88[ASN][1000 genomes]
rs73388027	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73388046	0.88[ASN][1000 genomes]
rs73388049	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8035954	0.86[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
rs73386033	NOP10	cis	Heart Left Ventricle	GTEx
rs73386033	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs73386033	NOP10	cis	Muscle Skeletal	GTEx
rs73386033	NOP10	cis	Nerve Tibial	GTEx
rs73386033	SLC12A6	cis	Thyroid	GTEx
rs73386033	NOP10	cis	Esophagus Muscularis	GTEx
rs73386033	NOP10	cis	Esophagus Mucosa	GTEx
rs73386033	NOP10	cis	Thyroid	GTEx
rs73386033	NOP10	cis	Artery Tibial	GTEx

Chromatin state (count:18 , 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	chr15:34510200-34516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:34510400-34516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:34510400-34516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:34510400-34516000	Weak transcription	NHEK	skin
6	chr15:34510400-34516200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:34510400-34516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:34510400-34516200	Weak transcription	NHDF-Ad	bronchial
9	chr15:34510600-34516000	Weak transcription	Hela-S3	cervix
10	chr15:34511800-34516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:34514000-34516400	Weak transcription	HUVEC	blood vessel
12	chr15:34515400-34516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:34515600-34516000	Flanking Active TSS	K562	blood
14	chr15:34515800-34516000	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:34515800-34516000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:34515800-34516000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:34515800-34516000	Enhancers	GM12878-XiMat	blood
18	chr15:34515800-34516000	Enhancers	Monocytes-CD14+_RO01746	blood

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