Variant report

Variant	rs11125468
Chromosome Location	chr2:53254100-53254101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1073802	0.92[EUR][1000 genomes]
rs1077945	0.86[EUR][1000 genomes]
rs11681279	0.91[EUR][1000 genomes]
rs12474068	0.80[EUR][1000 genomes]
rs12476447	0.86[EUR][1000 genomes]
rs1374255	0.92[EUR][1000 genomes]
rs1446450	0.84[EUR][1000 genomes]
rs17043857	0.80[EUR][1000 genomes]
rs17044006	0.90[EUR][1000 genomes]
rs17044037	0.89[EUR][1000 genomes]
rs17044055	0.85[EUR][1000 genomes]
rs2195660	0.91[EUR][1000 genomes]
rs2288639	0.86[EUR][1000 genomes]
rs2357015	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4672196	0.85[EUR][1000 genomes]
rs58728263	0.83[EUR][1000 genomes]
rs59013056	0.85[EUR][1000 genomes]
rs59992796	0.83[EUR][1000 genomes]
rs62138364	0.91[EUR][1000 genomes]
rs62140315	0.80[EUR][1000 genomes]
rs62140317	0.81[EUR][1000 genomes]
rs62140326	0.86[EUR][1000 genomes]
rs6723602	0.86[EUR][1000 genomes]
rs72795360	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011257	chr2:53212297-53270575	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
4	nsv874139	chr2:53216917-53277205	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
5	nsv581979	chr2:53216917-53288066	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
6	nsv874140	chr2:53218774-53277205	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
7	nsv1000235	chr2:53218841-53290638	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
8	nsv581980	chr2:53219203-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
9	nsv1014197	chr2:53219203-53290638	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
10	nsv581981	chr2:53222962-53283334	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53248800-53255400	Weak transcription	Fetal Lung	lung
2	chr2:53249000-53254200	Weak transcription	NHDF-Ad	bronchial
3	chr2:53253800-53256600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:53254000-53254200	Enhancers	HSMMtube	muscle
5	chr2:53254000-53254200	Enhancers	Osteobl	bone
6	chr2:53254000-53254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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