Variant report

Variant	rs12222272
Chromosome Location	chr11:86237088-86237089
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	chr11:86013660..86015868-chr11:86235501..86237829,2	K562	blood:

Variant related genes	Relation type
ENSG00000149196	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10898485	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11234665	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11234689	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11602862	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11606745	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2051434	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58410116	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72953621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528182	chr11:86234604-86259006	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
2	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
5	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
7	chr11:86235600-86238000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:86236000-86259000	Weak transcription	Ovary	ovary
9	chr11:86236200-86237600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:86236200-86238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:86236200-86238600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:86236200-86258600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:86236400-86240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:86236600-86237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:86236600-86237800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:86236600-86237800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr11:86236800-86243800	Weak transcription	HUVEC	blood vessel
18	chr11:86236800-86244000	Weak transcription	A549	lung
19	chr11:86237000-86237200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:86237000-86237800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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