Variant report

Variant	rs7241450
Chromosome Location	chr18:29959043-29959044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10502593	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10502597	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10502598	0.90[EUR][1000 genomes]
rs10502599	0.86[EUR][1000 genomes]
rs11661284	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11661378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11661757	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661767	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11873828	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11877846	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11877881	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052010	0.86[EUR][1000 genomes]
rs1380086	0.86[EUR][1000 genomes]
rs1689031	0.81[ASN][1000 genomes]
rs16963184	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17743799	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17743907	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17744182	0.83[EUR][1000 genomes]
rs17805881	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805905	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805953	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811420	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17811474	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17811780	0.86[EUR][1000 genomes]
rs41535045	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7237059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
2	chr18:29951200-29959200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr18:29951800-29961800	Weak transcription	Esophagus	oesophagus
4	chr18:29952800-29963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:29952800-29964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:29952800-29973200	Weak transcription	Fetal Stomach	stomach
7	chr18:29953000-29966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:29953400-29966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:29954000-29974000	Weak transcription	HSMMtube	muscle
10	chr18:29954200-29960000	Weak transcription	Small Intestine	intestine
11	chr18:29954200-29961800	Weak transcription	Gastric	stomach
12	chr18:29954200-29963200	Weak transcription	HSMM	muscle
13	chr18:29954200-29970800	Weak transcription	Fetal Intestine Large	intestine
14	chr18:29954200-29974400	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:29954400-29961600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:29954400-29961800	Weak transcription	Aorta	Aorta
17	chr18:29954400-29962000	Weak transcription	HUVEC	blood vessel
18	chr18:29954400-29962400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr18:29954400-29962800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:29954400-29963000	Weak transcription	Fetal Kidney	kidney
21	chr18:29954400-29972600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr18:29954600-29961600	Weak transcription	NHEK	skin
23	chr18:29954600-29961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:29954600-29962600	Weak transcription	Brain Angular Gyrus	brain
25	chr18:29954600-29962600	Weak transcription	Brain Hippocampus Middle	brain
26	chr18:29954600-29963000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr18:29954600-29974200	Weak transcription	Fetal Intestine Small	intestine
28	chr18:29955400-29965400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr18:29955800-29971000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:29957200-29959200	Enhancers	Pancreas	Pancrea
31	chr18:29957400-29959200	Enhancers	Stomach Mucosa	stomach
32	chr18:29957600-29959200	Enhancers	HepG2	liver
33	chr18:29957800-29959200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr18:29957800-29959400	Enhancers	Liver	Liver
35	chr18:29957800-29961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:29958000-29959200	Enhancers	Ovary	ovary
37	chr18:29958000-29959400	Enhancers	Fetal Heart	heart
38	chr18:29958000-29960800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr18:29958000-29965600	Weak transcription	Right Ventricle	heart
40	chr18:29958200-29959400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:29958200-29959400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:29958200-29959400	Enhancers	Adipose Nuclei	Adipose
43	chr18:29958200-29959400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr18:29958200-29962200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr18:29958400-29959200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr18:29958400-29959200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:29958400-29959200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr18:29958400-29959200	Enhancers	Hela-S3	cervix
49	chr18:29958400-29959200	Enhancers	HMEC	breast
50	chr18:29958600-29959200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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