Variant report

Variant	rs1446450
Chromosome Location	chr2:53260274-53260275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1073802	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11125468	0.84[EUR][1000 genomes]
rs12476447	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1374255	0.93[AMR][1000 genomes]
rs17044006	0.82[EUR][1000 genomes]
rs17044055	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2357015	0.85[EUR][1000 genomes]
rs2884076	0.90[ASN][1000 genomes]
rs4672196	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55720192	0.90[ASN][1000 genomes]
rs58728263	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59992796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755812	0.82[EUR][1000 genomes]
rs72795360	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72797214	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv581982	chr2:53256694-53295106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53255800-53260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:53255800-53271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:53256600-53260600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:53257400-53262800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:53259800-53261200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:53259800-53261400	Enhancers	NHDF-Ad	bronchial
7	chr2:53260000-53260800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:53260000-53263800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:53260200-53260400	Enhancers	Osteobl	bone
10	chr2:53260200-53260600	Enhancers	HSMMtube	muscle
11	chr2:53260200-53261200	Enhancers	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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