Variant report

Variant	rs74089453
Chromosome Location	chr13:52921514-52921515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56286438	0.90[AFR][1000 genomes]
rs57767269	0.90[AFR][1000 genomes]
rs58375002	0.90[AFR][1000 genomes]
rs59317237	0.90[AFR][1000 genomes]
rs59549397	0.90[AFR][1000 genomes]
rs74085703	0.90[AFR][1000 genomes]
rs74089441	0.90[AFR][1000 genomes]
rs74089446	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv819887	chr13:52772113-52926921	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv977385	chr13:52918841-52936623	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52917800-52922000	Weak transcription	A549	lung
2	chr13:52918800-52924000	Enhancers	HSMM	muscle
3	chr13:52918800-52924400	Enhancers	HMEC	breast
4	chr13:52919200-52921800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:52919200-52922200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:52919600-52921800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:52919600-52921800	Weak transcription	NHDF-Ad	bronchial
8	chr13:52919600-52921800	Weak transcription	NHLF	lung
9	chr13:52919800-52921800	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:52920000-52924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:52920400-52921600	Weak transcription	NH-A	brain
12	chr13:52920400-52921600	Weak transcription	Osteobl	bone
13	chr13:52920400-52921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:52920400-52922000	Weak transcription	HUVEC	blood vessel
15	chr13:52920400-52922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:52920400-52922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:52920400-52922200	Weak transcription	NHEK	skin
18	chr13:52920400-52922800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:52920600-52921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:52921000-52921800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:52921200-52921800	Enhancers	HSMMtube	muscle
22	chr13:52921400-52922000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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