Variant report

Variant	rs7818147
Chromosome Location	chr8:69245872-69245873
allele	A/G
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	STAT3	chr8:69245831-69245964	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr8:69245780-69245930	HMF	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000248801	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10098538	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13251356	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13252745	0.87[ASN][1000 genomes]
rs13257807	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13261104	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13262740	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13278793	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517124	0.91[ASN][1000 genomes]
rs1607144	0.91[ASN][1000 genomes]
rs1971404	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1971527	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2591011	0.87[ASN][1000 genomes]
rs2591012	0.87[ASN][1000 genomes]
rs2591015	0.85[ASN][1000 genomes]
rs2591016	0.87[ASN][1000 genomes]
rs4346979	0.87[ASN][1000 genomes]
rs6991818	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000384	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7001418	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004646	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7013597	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015549	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7822588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823116	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823422	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7838935	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs814441	0.96[ASN][1000 genomes]
rs814463	0.92[ASN][1000 genomes]
rs868546	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9298133	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69242200-69246200	Active TSS	Brain Anterior Caudate	brain
2	chr8:69242200-69246200	Active TSS	Fetal Brain Female	brain
3	chr8:69245200-69246000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:69245200-69246000	Enhancers	Adipose Nuclei	Adipose
5	chr8:69245400-69249000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:69245600-69246000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:69245800-69246000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:69245800-69246000	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:69245800-69246200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:69245800-69246200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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