Variant report

Variant	rs72901378
Chromosome Location	chr18:39891215-39891216
allele	A/G
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:19)

rs_ID	r²[population]
rs10502781	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1461704	0.89[EUR][1000 genomes]
rs17610303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56145428	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7228908	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7230352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240321	0.86[EUR][1000 genomes]
rs72899323	0.81[AMR][1000 genomes]
rs72899324	0.81[AMR][1000 genomes]
rs72901342	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72901344	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72901345	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901348	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72901351	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72901367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72901374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9967444	0.86[EUR][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39889000-39892600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:39889800-39891600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:39889800-39893000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:39890200-39891600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:39890200-39891600	Enhancers	HMEC	breast
6	chr18:39890200-39891600	Enhancers	NHEK	skin
7	chr18:39890200-39891800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr18:39890200-39892000	Enhancers	NHDF-Ad	bronchial
9	chr18:39890200-39892600	Enhancers	Adipose Nuclei	Adipose
10	chr18:39890400-39891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:39890400-39891400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:39890400-39891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:39890400-39891600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:39890400-39891600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr18:39890400-39891600	Enhancers	HSMMtube	muscle
16	chr18:39890600-39891600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr18:39890800-39891600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:39890800-39891600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr18:39890800-39891600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr18:39891000-39891600	Bivalent Enhancer	Left Ventricle	heart
21	chr18:39891200-39891800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:39891200-39891800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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