Variant report

Variant	rs73143872
Chromosome Location	chr4:54729836-54729837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1391764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1498831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17083604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57221039	1.00[AMR][1000 genomes]
rs57537230	1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73143869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73817034	1.00[AMR][1000 genomes]
rs73817119	1.00[AMR][1000 genomes]
rs73817163	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818152	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54727400-54731000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:54727400-54731400	Enhancers	Fetal Lung	lung
3	chr4:54727600-54730400	Enhancers	NHLF	lung
4	chr4:54727600-54730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:54727600-54731600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:54727800-54730200	Enhancers	Osteobl	bone
7	chr4:54727800-54730600	Enhancers	Fetal Heart	heart
8	chr4:54727800-54731600	Enhancers	Fetal Stomach	stomach
9	chr4:54728200-54730200	Enhancers	NH-A	brain
10	chr4:54728200-54730800	Enhancers	Fetal Muscle Leg	muscle
11	chr4:54728400-54730200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:54728400-54730400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:54728600-54730200	Enhancers	Fetal Kidney	kidney
14	chr4:54728800-54730200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:54729000-54731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:54729000-54731400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:54729200-54730200	Enhancers	Ovary	ovary
18	chr4:54729200-54730200	Enhancers	Right Atrium	heart
19	chr4:54729200-54730600	Enhancers	Left Ventricle	heart
20	chr4:54729400-54731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:54729400-54731400	Enhancers	NHDF-Ad	bronchial
22	chr4:54729600-54730200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:54729800-54730200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:54729800-54730200	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:54729800-54730200	Enhancers	Lung	lung
26	chr4:54729800-54730400	Enhancers	Right Ventricle	heart

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