Variant report

Variant	rs72917169
Chromosome Location	chr18:44519393-44519394
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72905456	1.00[AMR][1000 genomes]
rs72907200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911127	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44515600-44520800	Weak transcription	Psoas Muscle	Psoas
2	chr18:44518400-44521000	Enhancers	HSMM	muscle
3	chr18:44518800-44519400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:44518800-44520000	Enhancers	HSMMtube	muscle
5	chr18:44518800-44520200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:44518800-44520400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:44518800-44520400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:44518800-44520800	Enhancers	NHLF	lung
9	chr18:44519000-44520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:44519000-44520200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:44519000-44520200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr18:44519000-44520400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:44519000-44520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:44519000-44520800	Enhancers	NHDF-Ad	bronchial
15	chr18:44519000-44521000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:44519000-44521000	Enhancers	Fetal Muscle Leg	muscle
17	chr18:44519000-44521200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr18:44519200-44519600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr18:44519200-44520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:44519200-44520800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:44519200-44520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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