Variant report

Variant	rs4794592
Chromosome Location	chr17:53537181-53537182
allele	G/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	CEBPB	chr17:53536415-53537288	A549	lung:	n/a	chr17:53536962-53536975 chr17:53536962-53536973
2	TCF12	chr17:53536226-53537202	A549	lung:	n/a	n/a
3	CTCF	chr17:53537080-53537230	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:53536205..53538280-chr17:53539661..53541513,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262395	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11656380	0.96[ASN][1000 genomes]
rs11870717	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150374	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12325730	0.99[ASN][1000 genomes]
rs12451745	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12940911	0.97[ASN][1000 genomes]
rs12942292	0.98[ASN][1000 genomes]
rs12943574	0.97[ASN][1000 genomes]
rs12944990	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12950992	0.93[ASN][1000 genomes]
rs17819194	0.93[ASN][1000 genomes]
rs17819212	0.93[ASN][1000 genomes]
rs2009227	0.83[EUR][1000 genomes]
rs35686442	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4432304	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794935	0.93[ASN][1000 genomes]
rs7220600	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225691	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9303370	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9890254	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9890288	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9899752	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9903218	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9908571	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9910434	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
2	chr17:53532800-53537400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr17:53535000-53537200	Enhancers	A549	lung
4	chr17:53535600-53537200	Enhancers	NH-A	brain
5	chr17:53535600-53537200	Enhancers	NHEK	skin
6	chr17:53535600-53537400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:53535800-53537200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:53535800-53537200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:53535800-53537200	Enhancers	NHDF-Ad	bronchial
10	chr17:53535800-53537400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr17:53536000-53537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:53536000-53537200	Enhancers	GM12878-XiMat	blood
13	chr17:53536000-53537200	Enhancers	Osteobl	bone
14	chr17:53536200-53537200	Enhancers	NHLF	lung
15	chr17:53536600-53537400	Enhancers	Hela-S3	cervix
16	chr17:53536800-53537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:53536800-53540800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr17:53537000-53537200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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