Variant report

Variant	rs13139251
Chromosome Location	chr4:48479944-48479945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48478979..48481680-chr4:48482843..48484535,2	K562	blood:
2	chr4:48478067..48481410-chr4:48493413..48496125,3	K562	blood:
3	chr4:48473818..48475564-chr4:48478853..48480558,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10517218	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10805169	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13102023	0.92[EUR][1000 genomes]
rs13105648	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13110633	0.91[EUR][1000 genomes]
rs13114836	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13139533	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13145713	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1565217	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17472127	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34380340	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34386102	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34922671	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35079648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963236	0.89[EUR][1000 genomes]
rs3811759	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62311260	0.88[EUR][1000 genomes]
rs6447639	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811724	0.84[EUR][1000 genomes]
rs6821909	0.85[EUR][1000 genomes]
rs6824075	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6824125	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6844692	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6845250	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847622	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs745761	0.84[EUR][1000 genomes]
rs7670045	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7676578	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7698564	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48473000-48482000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48473000-48483600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:48479200-48480200	Enhancers	Osteobl	bone
4	chr4:48479400-48480000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:48479400-48481000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:48479800-48480000	Enhancers	K562	blood
7	chr4:48479800-48484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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