Variant report

Variant	rs757061
Chromosome Location	chr17:45926848-45926849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45924201..45927115-chr17:46047307..46049661,2	K562	blood:
2	chr17:45924111..45929589-chr17:45940263..45947435,9	MCF-7	breast:
3	chr17:45923698..45927608-chr17:45971618..45975136,4	K562	blood:
4	chr17:45912259..45914443-chr17:45925886..45928377,3	MCF-7	breast:
5	chr17:45925951..45927687-chr17:45928711..45930678,2	K562	blood:
6	chr17:45921031..45932631-chr17:45970978..45975136,16	K562	blood:
7	chr17:45912279..45914440-chr17:45926481..45928555,2	K562	blood:
8	chr17:45925187..45928793-chr17:46033650..46037470,3	MCF-7	breast:
9	chr17:45923146..45930414-chr17:45970842..45976007,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108465	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000264243	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000264920	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008934	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11079804	0.94[MEX][hapmap]
rs11545723	0.88[MEX][hapmap]
rs12452082	1.00[MEX][hapmap]
rs2023799	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074191	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4793734	0.88[MEX][hapmap]
rs4794225	0.94[MEX][hapmap]
rs6503871	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7220419	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8079715	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9907142	0.85[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs991108	0.83[MEX][hapmap]
rs9914156	0.85[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45919200-45928000	Weak transcription	Right Atrium	heart
2	chr17:45921000-45927200	Weak transcription	A549	lung
3	chr17:45922600-45927600	Weak transcription	Hela-S3	cervix
4	chr17:45924200-45928000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr17:45925000-45927000	Weak transcription	NHEK	skin
6	chr17:45925200-45927800	Weak transcription	Gastric	stomach
7	chr17:45925400-45927200	Weak transcription	Spleen	Spleen
8	chr17:45925400-45927600	Weak transcription	Pancreas	Pancrea
9	chr17:45925600-45927000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:45925800-45927800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:45925800-45927800	Weak transcription	Right Ventricle	heart
12	chr17:45925800-45928000	Weak transcription	Lung	lung
13	chr17:45926000-45927400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:45926200-45927200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:45926400-45927000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:45926400-45927000	Enhancers	K562	blood
17	chr17:45926400-45929000	Flanking Active TSS	Placenta	Placenta
18	chr17:45926600-45927800	Flanking Active TSS	HMEC	breast
19	chr17:45926600-45930000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr17:45926800-45927200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr17:45926800-45928200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:45926800-45928200	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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