Variant report

Variant	rs58596241
Chromosome Location	chr19:51286065-51286066
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51163913..51166784-chr19:51284486..51287895,4	K562	blood:
2	chr19:51209833..51211949-chr19:51285475..51287425,2	K562	blood:
3	chr19:51207327..51208114-chr19:51286032..51286626,2	MCF-7	breast:
4	chr19:51162808..51166425-chr19:51284462..51289034,5	K562	blood:
5	chr19:51282947..51288009-chr19:51296045..51300501,5	K562	blood:
6	chr19:51226538..51229322-chr19:51285146..51288347,3	MCF-7	breast:
7	chr19:51207234..51209362-chr19:51285709..51287980,18	K562	blood:
8	chr19:51281267..51283808-chr19:51285308..51287057,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268375	Chromatin interaction
ENSG00000161681	Chromatin interaction
ENSG00000105472	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10412862	0.88[ASN][1000 genomes]
rs10412900	0.88[ASN][1000 genomes]
rs12978675	0.88[ASN][1000 genomes]
rs12979334	0.88[ASN][1000 genomes]
rs12979351	0.88[ASN][1000 genomes]
rs17800375	0.88[ASN][1000 genomes]
rs2162784	0.88[ASN][1000 genomes]
rs2560932	0.88[ASN][1000 genomes]
rs2659060	0.88[ASN][1000 genomes]
rs2659063	0.88[ASN][1000 genomes]
rs2659064	0.88[ASN][1000 genomes]
rs266124	0.88[ASN][1000 genomes]
rs36046465	0.97[ASN][1000 genomes]
rs3810283	0.88[ASN][1000 genomes]
rs3810284	0.88[ASN][1000 genomes]
rs57028658	1.00[ASN][1000 genomes]
rs57906560	0.95[ASN][1000 genomes]
rs59925776	0.95[ASN][1000 genomes]
rs60175380	1.00[ASN][1000 genomes]
rs60471273	0.95[ASN][1000 genomes]
rs60817149	0.97[ASN][1000 genomes]
rs67085056	0.95[ASN][1000 genomes]
rs67367861	0.85[ASN][1000 genomes]
rs73584988	0.92[ASN][1000 genomes]
rs73584997	0.94[ASN][1000 genomes]
rs73587469	0.95[ASN][1000 genomes]
rs73587471	0.95[ASN][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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 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	chr19:51281600-51287000	Weak transcription	Right Atrium	heart
2	chr19:51284200-51286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:51284600-51286600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:51285000-51288800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:51285600-51287000	Enhancers	Placenta	Placenta
6	chr19:51285800-51286200	Bivalent Enhancer	A549	lung
7	chr19:51285800-51287000	Enhancers	K562	blood
8	chr19:51286000-51286800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:51286000-51286800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:51286000-51287400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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