Variant report

Variant	rs72893378
Chromosome Location	chr18:7855456-7855457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7850877..7852810-chr18:7852966..7855500,2	K562	blood:
2	chr18:7849859..7852810-chr18:7852966..7855676,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs72893368	0.93[EUR][1000 genomes]
rs72893373	0.96[EUR][1000 genomes]
rs72893375	0.96[EUR][1000 genomes]
rs72893380	0.91[EUR][1000 genomes]
rs72893381	0.96[EUR][1000 genomes]
rs73941013	0.96[EUR][1000 genomes]
rs73941017	0.96[EUR][1000 genomes]
rs750901	0.98[EUR][1000 genomes]
rs894758	0.82[EUR][1000 genomes]
rs894760	0.98[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7844800-7856600	Weak transcription	Thymus	Thymus
2	chr18:7845000-7856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:7847400-7856400	Weak transcription	Left Ventricle	heart
4	chr18:7847400-7857600	Weak transcription	Lung	lung
5	chr18:7848000-7856800	Weak transcription	Right Ventricle	heart
6	chr18:7853400-7855600	Enhancers	Fetal Heart	heart
7	chr18:7853400-7856400	Weak transcription	Right Atrium	heart
8	chr18:7854200-7856000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr18:7854200-7857600	Enhancers	A549	lung
10	chr18:7854400-7857200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:7854800-7856000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7855000-7855800	Enhancers	Brain Anterior Caudate	brain
13	chr18:7855000-7856200	Enhancers	Stomach Smooth Muscle	stomach
14	chr18:7855000-7858000	Enhancers	Hela-S3	cervix
15	chr18:7855200-7855600	Enhancers	Aorta	Aorta
16	chr18:7855200-7855800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:7855200-7856000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr18:7855200-7856200	Enhancers	Colon Smooth Muscle	Colon
19	chr18:7855200-7857600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:7855200-7857600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:7855200-7857600	Enhancers	Psoas Muscle	Psoas
22	chr18:7855200-7857800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:7855400-7855800	Enhancers	HSMMtube	muscle
24	chr18:7855400-7856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:7855400-7856400	Weak transcription	Pancreas	Pancrea
26	chr18:7855400-7856400	Weak transcription	HMEC	breast

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