Variant report

Variant	rs11217448
Chromosome Location	chr11:119614524-119614525
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119612432..119615293-chr2:70313000..70315605,2	K562	blood:

Variant related genes	Relation type
ENSG00000179818	Chromatin interaction
ENSG00000169564	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10892444	0.85[EUR][1000 genomes]
rs10892445	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10892446	0.87[EUR][1000 genomes]
rs11217426	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217429	0.80[EUR][1000 genomes]
rs11217430	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11217437	0.87[EUR][1000 genomes]
rs11217438	0.87[EUR][1000 genomes]
rs11217440	0.87[EUR][1000 genomes]
rs11217441	0.87[EUR][1000 genomes]
rs11217442	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607610	0.90[EUR][1000 genomes]
rs12361192	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418662	0.90[EUR][1000 genomes]
rs12421434	0.85[EUR][1000 genomes]
rs12421466	0.85[EUR][1000 genomes]
rs12786505	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12793075	0.87[EUR][1000 genomes]
rs12796806	0.87[EUR][1000 genomes]
rs12797914	0.85[EUR][1000 genomes]
rs12800445	0.80[EUR][1000 genomes]
rs1876795	0.80[EUR][1000 genomes]
rs2136420	0.81[EUR][1000 genomes]
rs2136421	0.81[EUR][1000 genomes]
rs2368936	0.81[EUR][1000 genomes]
rs35248712	0.87[EUR][1000 genomes]
rs4245206	0.87[EUR][1000 genomes]
rs4489755	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4505073	0.87[EUR][1000 genomes]
rs4936496	0.81[EUR][1000 genomes]
rs4938718	0.81[EUR][1000 genomes]
rs4938719	0.86[EUR][1000 genomes]
rs4938720	0.87[EUR][1000 genomes]
rs58136657	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6589770	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7109251	0.88[ASN][1000 genomes]
rs73006720	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952366	0.90[EUR][1000 genomes]
rs9666263	0.91[EUR][1000 genomes];0.91[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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3357144	chr11:119610642-119614840	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119613000-119614600	Enhancers	Brain Cingulate Gyrus	brain
2	chr11:119613600-119614600	Enhancers	Brain Angular Gyrus	brain
3	chr11:119613600-119614800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:119613600-119615200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr11:119613600-119622200	Weak transcription	Esophagus	oesophagus
6	chr11:119613600-119636000	Weak transcription	Right Atrium	heart
7	chr11:119613800-119614600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:119613800-119614600	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr11:119613800-119625400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:119614000-119614600	Enhancers	Brain Germinal Matrix	brain
11	chr11:119614200-119619000	Weak transcription	Fetal Heart	heart
12	chr11:119614400-119614600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:119614400-119625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:119614400-119628200	Weak transcription	Gastric	stomach

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