Variant report

Variant	rs4758048
Chromosome Location	chr11:8219322-8219323
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8214526..8217689-chr11:8218013..8220798,3	K562	blood:
2	chr11:8218272..8221882-chr11:8224030..8226570,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10732513	0.99[ASN][1000 genomes]
rs10743057	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743061	0.97[ASN][1000 genomes]
rs10839997	0.81[AMR][1000 genomes]
rs11041791	0.80[AMR][1000 genomes]
rs11041792	0.82[EUR][1000 genomes]
rs11041793	0.87[ASN][1000 genomes]
rs11041794	0.87[ASN][1000 genomes]
rs11041795	0.87[ASN][1000 genomes]
rs11041796	0.87[ASN][1000 genomes]
rs11041799	0.85[ASN][1000 genomes]
rs11041803	0.88[ASN][1000 genomes]
rs11041804	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12365701	0.87[ASN][1000 genomes]
rs12786434	0.89[ASN][1000 genomes]
rs12786736	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12793315	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12802958	0.80[EUR][1000 genomes]
rs17227568	0.87[ASN][1000 genomes]
rs3849990	0.98[ASN][1000 genomes]
rs3849992	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3849993	0.89[ASN][1000 genomes]
rs3861071	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3911309	0.87[ASN][1000 genomes]
rs3911310	0.87[ASN][1000 genomes]
rs4123670	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4123671	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4412746	0.87[ASN][1000 genomes]
rs4539318	0.89[ASN][1000 genomes]
rs4564325	0.87[ASN][1000 genomes]
rs4636658	0.89[ASN][1000 genomes]
rs55885664	0.87[ASN][1000 genomes]
rs56090029	0.88[ASN][1000 genomes]
rs67639141	0.89[ASN][1000 genomes]
rs7112519	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7114892	0.87[ASN][1000 genomes]
rs7115706	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7117673	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7482621	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7948836	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9783292	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9783334	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr11:8215400-8220200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:8215800-8220200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:8217400-8223200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:8217600-8223800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:8218000-8219600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:8218400-8219800	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:8218600-8219600	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:8218800-8223000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:8219000-8223200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:8219200-8222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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