Variant report

Variant	rs17053285
Chromosome Location	chr3:53664731-53664732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53661729..53666678-chr3:53666737..53670217,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17053295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292918	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2612020	0.93[ASN][1000 genomes]
rs2633708	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2633709	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2680657	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2680659	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs36003262	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774459	1.00[EUR][1000 genomes]
rs3774467	0.84[CHB][hapmap]
rs3774483	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3774484	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3774485	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3774487	1.00[JPT][hapmap]
rs3774490	1.00[JPT][hapmap]
rs3774499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774503	1.00[JPT][hapmap]
rs3774513	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3774521	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3774524	0.84[ASN][1000 genomes]
rs55999888	0.95[ASN][1000 genomes]
rs6788419	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs715781	1.00[EUR][1000 genomes]
rs72967859	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72978531	0.93[ASN][1000 genomes]
rs73840122	1.00[EUR][1000 genomes]
rs898412	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898413	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311511	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9848595	1.00[EUR][1000 genomes];0.91[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53661400-53667200	Weak transcription	Fetal Intestine Large	intestine
3	chr3:53661600-53665000	Weak transcription	Fetal Intestine Small	intestine
4	chr3:53662000-53665400	Enhancers	Stomach Mucosa	stomach
5	chr3:53662200-53664800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:53662200-53664800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:53663400-53665000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:53663800-53664800	Weak transcription	Esophagus	oesophagus
9	chr3:53664000-53665000	Enhancers	HepG2	liver
10	chr3:53664000-53668600	Weak transcription	Gastric	stomach
11	chr3:53664200-53665000	Weak transcription	Pancreas	Pancrea
12	chr3:53664200-53665200	Weak transcription	Fetal Lung	lung
13	chr3:53664400-53665200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:53664600-53664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:53664600-53664800	Enhancers	Fetal Kidney	kidney
16	chr3:53664600-53664800	Flanking Active TSS	A549	lung
17	chr3:53664600-53664800	Enhancers	HMEC	breast

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