Variant report

Variant	rs72918150
Chromosome Location	chr18:45560939-45560940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs45501996	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56003937	0.80[AFR][1000 genomes]
rs72918138	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72918141	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72918154	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45550400-45563400	Weak transcription	Stomach Mucosa	stomach
2	chr18:45550600-45564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:45550800-45563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:45551200-45561600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr18:45552600-45565200	Weak transcription	Colonic Mucosa	Colon
6	chr18:45554200-45563400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:45554200-45567800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:45554400-45562200	Weak transcription	Fetal Kidney	kidney
9	chr18:45554400-45563000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:45554400-45567600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:45554800-45563400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:45555000-45563800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:45555000-45564000	Weak transcription	Adipose Nuclei	Adipose
14	chr18:45555400-45562200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr18:45556200-45562600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:45557400-45570000	Weak transcription	Fetal Intestine Small	intestine
17	chr18:45558200-45562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:45558200-45563800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:45558400-45578400	Weak transcription	Ovary	ovary
20	chr18:45559000-45565600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr18:45559200-45564400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:45559800-45565200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr18:45560200-45561000	Enhancers	Lung	lung
24	chr18:45560200-45561400	Enhancers	Fetal Stomach	stomach
25	chr18:45560200-45563800	Enhancers	Spleen	Spleen
26	chr18:45560200-45564800	Enhancers	Fetal Muscle Leg	muscle
27	chr18:45560200-45566400	Genic enhancers	Esophagus	oesophagus
28	chr18:45560400-45561000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr18:45560400-45562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:45560400-45562400	Weak transcription	HSMMtube	muscle
31	chr18:45560400-45563000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:45560400-45564600	Enhancers	Fetal Muscle Trunk	muscle
33	chr18:45560600-45561400	Enhancers	Brain Hippocampus Middle	brain
34	chr18:45560600-45562200	Weak transcription	Hela-S3	cervix
35	chr18:45560600-45562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:45560600-45563000	Weak transcription	HSMM	muscle
37	chr18:45560800-45561000	Enhancers	Gastric	stomach
38	chr18:45560800-45561200	Enhancers	Brain Substantia Nigra	brain
39	chr18:45560800-45561400	Enhancers	Right Ventricle	heart
40	chr18:45560800-45562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr18:45560800-45562600	Weak transcription	Placenta	Placenta
42	chr18:45560800-45562600	Weak transcription	HMEC	breast

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