Variant report

Variant	rs72893380
Chromosome Location	chr18:7857043-7857044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72893368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72893373	0.91[EUR][1000 genomes]
rs72893375	0.91[EUR][1000 genomes]
rs72893378	0.91[EUR][1000 genomes]
rs72893381	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73941013	0.91[EUR][1000 genomes]
rs73941017	0.91[EUR][1000 genomes]
rs750901	0.93[EUR][1000 genomes]
rs894760	0.93[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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7847400-7857600	Weak transcription	Lung	lung
2	chr18:7854200-7857600	Enhancers	A549	lung
3	chr18:7854400-7857200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr18:7855000-7858000	Enhancers	Hela-S3	cervix
5	chr18:7855200-7857600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:7855200-7857600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:7855200-7857600	Enhancers	Psoas Muscle	Psoas
8	chr18:7855200-7857800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:7855800-7857200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:7855800-7857400	Enhancers	NHEK	skin
11	chr18:7855800-7857400	Enhancers	Osteobl	bone
12	chr18:7855800-7857600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:7856000-7857200	Enhancers	NH-A	brain
14	chr18:7856000-7858000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:7856200-7857400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:7856200-7860600	Weak transcription	Colon Smooth Muscle	Colon
17	chr18:7856400-7857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:7856400-7857200	Enhancers	Pancreas	Pancrea
19	chr18:7856400-7857800	Enhancers	Fetal Thymus	thymus
20	chr18:7856400-7857800	Enhancers	Left Ventricle	heart
21	chr18:7856400-7857800	Enhancers	HMEC	breast
22	chr18:7856400-7858200	Enhancers	Fetal Heart	heart
23	chr18:7856600-7857200	Enhancers	Aorta	Aorta
24	chr18:7856600-7857600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr18:7856600-7857800	Enhancers	Thymus	Thymus
26	chr18:7856800-7857200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:7856800-7857800	Enhancers	Right Ventricle	heart
28	chr18:7857000-7857200	Enhancers	Right Atrium	heart
29	chr18:7857000-7857200	Enhancers	Skeletal Muscle Female	skeletal muscle

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