Variant report

Variant	rs73302411
Chromosome Location	chr17:17510764-17510765
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	chr17:17504788..17507617-chr17:17507933..17511069,3	K562	blood:
2	chr17:17397187..17399727-chr17:17509208..17511781,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4924798	1.00[AMR][1000 genomes]
rs4925050	1.00[AMR][1000 genomes]
rs56259755	1.00[AMR][1000 genomes]
rs56850816	1.00[AMR][1000 genomes]
rs58930875	1.00[AMR][1000 genomes]
rs59079861	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59304261	1.00[AMR][1000 genomes]
rs60358220	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60624876	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs60834160	1.00[AMR][1000 genomes]
rs60942595	1.00[AMR][1000 genomes]
rs7212625	1.00[AMR][1000 genomes]
rs73288105	0.94[AFR][1000 genomes]
rs73288112	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73288127	1.00[AMR][1000 genomes]
rs73290111	1.00[AMR][1000 genomes]
rs73290125	1.00[AMR][1000 genomes]
rs73290132	1.00[AMR][1000 genomes]
rs73302403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr17:17507000-17512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:17507200-17512600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:17508400-17510800	Enhancers	NHDF-Ad	bronchial
4	chr17:17508600-17515200	Weak transcription	Lung	lung
5	chr17:17509200-17512600	Weak transcription	Right Ventricle	heart
6	chr17:17509400-17515400	Weak transcription	HSMMtube	muscle
7	chr17:17509400-17517800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:17509800-17512400	Weak transcription	Fetal Intestine Small	intestine
9	chr17:17509800-17512400	Weak transcription	Fetal Stomach	stomach
10	chr17:17509800-17515400	Weak transcription	Left Ventricle	heart
11	chr17:17510200-17515200	Weak transcription	Fetal Heart	heart
12	chr17:17510200-17515400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:17510200-17515400	Weak transcription	Right Atrium	heart
14	chr17:17510400-17510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:17510400-17515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:17510600-17512600	Weak transcription	K562	blood
17	chr17:17510600-17512800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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