Variant report

Variant	rs4734051
Chromosome Location	chr8:103001573-103001574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:103000551-103001677	GM12878	blood:	n/a	chr8:103001031-103001042 chr8:103001033-103001042 chr8:103001032-103001042
2	CUX1	chr8:103000826-103001576	GM12878	blood:	n/a	n/a
3	MAZ	chr8:103000928-103001631	GM12878	blood:	n/a	n/a
4	ZNF384	chr8:103000739-103001577	GM12878	blood:	n/a	n/a
5	TBP	chr8:103000568-103001608	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10105250	0.95[CHD][hapmap];0.89[ASN][1000 genomes]
rs10505016	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs1269713	0.93[CHD][hapmap];0.88[ASN][1000 genomes]
rs1269714	0.88[ASN][1000 genomes]
rs1269715	0.93[CHD][hapmap];0.88[ASN][1000 genomes]
rs1269716	0.88[ASN][1000 genomes]
rs1351063	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187193	0.88[ASN][1000 genomes]
rs2226768	0.88[ASN][1000 genomes]
rs2387330	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2860153	0.84[ASN][1000 genomes]
rs4734610	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734611	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734613	0.87[ASN][1000 genomes]
rs6468808	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990972	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7003289	1.00[ASW][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap]
rs7006931	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357558	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7820497	0.82[ASW][hapmap];0.89[YRI][hapmap]
rs7829974	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833943	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4734051	DCAF13	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:102992600-103005600	Weak transcription	Left Ventricle	heart
3	chr8:102992600-103007600	Weak transcription	Lung	lung
4	chr8:102993200-103004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:102993200-103004200	Weak transcription	Ovary	ovary
6	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:102994200-103007800	Weak transcription	Right Ventricle	heart
8	chr8:102997000-103004000	Enhancers	Fetal Heart	heart
9	chr8:102997200-103001800	Weak transcription	Aorta	Aorta
10	chr8:102997400-103003800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:102999400-103004000	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:103000000-103007800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:103000200-103001800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103000800-103002600	Enhancers	GM12878-XiMat	blood
15	chr8:103000800-103010000	Weak transcription	Fetal Brain Male	brain
16	chr8:103001000-103002000	Enhancers	HSMMtube	muscle
17	chr8:103001200-103001600	Weak transcription	K562	blood
18	chr8:103001400-103002200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:103001400-103002400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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