Variant report

Variant	rs56813054
Chromosome Location	chr5:54185473-54185474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56198868	0.81[AFR][1000 genomes]
rs73128656	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54180400-54187800	Weak transcription	Gastric	stomach
2	chr5:54182800-54185600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54183000-54185600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:54184400-54185600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:54184400-54185800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:54184400-54186600	Enhancers	HSMM	muscle
7	chr5:54185200-54185800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:54185200-54186400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:54185200-54186400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:54185200-54186400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:54185200-54186400	Enhancers	Fetal Heart	heart
12	chr5:54185200-54186400	Bivalent Enhancer	NHDF-Ad	bronchial
13	chr5:54185200-54186400	Enhancers	NHEK	skin
14	chr5:54185200-54186800	Enhancers	Hela-S3	cervix
15	chr5:54185200-54186800	Enhancers	HSMMtube	muscle
16	chr5:54185400-54186400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:54185400-54186400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:54185400-54186400	Enhancers	Fetal Kidney	kidney
19	chr5:54185400-54186400	Enhancers	HMEC	breast
20	chr5:54185400-54186400	Enhancers	HUVEC	blood vessel
21	chr5:54185400-54186400	Enhancers	NHLF	lung
22	chr5:54185400-54186600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:54185400-54186600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:54185400-54186600	Enhancers	NH-A	brain
25	chr5:54185400-54186600	Enhancers	Osteobl	bone

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