Variant report

Variant	rs4734049
Chromosome Location	chr8:103000553-103000554
allele	C/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	ZNF384	chr8:103000243-103001237	K562	blood:	n/a	n/a

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10089091	1.00[CEU][hapmap]
rs10090732	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10091084	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10102923	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10105502	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10505017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1269711	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[YRI][hapmap];0.91[EUR][1000 genomes]
rs1269712	0.89[EUR][1000 genomes]
rs16868893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1992330	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2023268	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2023269	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2387331	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28379664	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28680363	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34417909	0.85[EUR][1000 genomes]
rs4734050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4734607	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734609	1.00[CEU][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs55837041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59321812	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60389438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72679088	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7814225	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7814951	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7818772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819015	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7837198	0.91[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs9297317	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9656850	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs984928	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9886578	0.80[AMR][1000 genomes];0.89[EUR][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

No data

Chromatin state (count:17 , 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	chr8:102992800-103001200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:102993200-103004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:102993200-103004200	Weak transcription	Ovary	ovary
7	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:102994200-103007800	Weak transcription	Right Ventricle	heart
9	chr8:102997000-103004000	Enhancers	Fetal Heart	heart
10	chr8:102997200-103001800	Weak transcription	Aorta	Aorta
11	chr8:102997400-103003800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:102998200-103000600	Weak transcription	GM12878-XiMat	blood
13	chr8:102999000-103000600	Active TSS	K562	blood
14	chr8:102999400-103004000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:103000000-103007800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:103000200-103001800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103000400-103000800	Enhancers	Fetal Brain Male	brain

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