Variant report

Variant	rs60123910
Chromosome Location	chr1:45527903-45527904
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	chr1:45524312..45527029-chr1:45527867..45530740,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs174638	1.00[AMR][1000 genomes]
rs174639	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs264012	1.00[AMR][1000 genomes]
rs264016	1.00[AMR][1000 genomes]
rs264017	1.00[AMR][1000 genomes]
rs264018	1.00[AMR][1000 genomes]
rs2883814	1.00[AMR][1000 genomes]
rs35710243	1.00[AMR][1000 genomes]
rs418302	1.00[AMR][1000 genomes]
rs425780	1.00[AMR][1000 genomes]
rs4660829	1.00[AMR][1000 genomes]
rs492515	1.00[AMR][1000 genomes]
rs57755658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs59682873	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61542654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6666857	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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45520400-45529200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:45524600-45532800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:45524800-45528400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:45525200-45534600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:45525800-45528400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:45525800-45558600	Weak transcription	HepG2	liver
7	chr1:45526000-45530200	Weak transcription	Fetal Brain Female	brain
8	chr1:45526200-45532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:45526600-45532400	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links