Variant report

Variant	rs4397372
Chromosome Location	chr8:94992567-94992568
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10454352	0.85[EUR][1000 genomes]
rs10464832	0.86[EUR][1000 genomes]
rs10808664	0.88[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs10956893	0.88[CEU][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs11774322	0.82[EUR][1000 genomes]
rs11784805	0.85[EUR][1000 genomes]
rs11787272	0.84[EUR][1000 genomes]
rs3115942	0.85[EUR][1000 genomes]
rs3115943	0.84[EUR][1000 genomes]
rs3115947	0.85[EUR][1000 genomes]
rs3134014	0.84[EUR][1000 genomes]
rs3134015	0.88[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs3134018	0.85[EUR][1000 genomes]
rs3134020	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236822	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs4236823	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4391396	0.88[CEU][hapmap]
rs59369332	0.85[EUR][1000 genomes]
rs62523013	0.84[EUR][1000 genomes]
rs6471417	0.85[EUR][1000 genomes]
rs7817292	0.88[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs7835189	0.84[EUR][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	nsv518975	chr8:94985722-94992958	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4397372	RPL30	cis	parietal	SCAN
rs4397372	TMEM67	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94989600-94994400	Enhancers	Fetal Intestine Small	intestine
2	chr8:94991200-94992600	Enhancers	Gastric	stomach
3	chr8:94991200-94993000	Enhancers	Pancreas	Pancrea
4	chr8:94991200-94993200	Enhancers	Stomach Mucosa	stomach
5	chr8:94991200-94993600	Enhancers	Ovary	ovary
6	chr8:94991200-94994400	Enhancers	Fetal Intestine Large	intestine
7	chr8:94991400-94993400	Enhancers	Fetal Lung	lung
8	chr8:94991400-94993400	Weak transcription	HMEC	breast
9	chr8:94991600-94993200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr8:94991800-94992600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:94991800-94992600	Enhancers	Lung	lung
12	chr8:94991800-94992600	Enhancers	Right Atrium	heart
13	chr8:94991800-94992800	Enhancers	Fetal Stomach	stomach
14	chr8:94991800-94993000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:94991800-94993000	Enhancers	Liver	Liver
16	chr8:94991800-94993000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:94991800-94993000	Enhancers	Brain Substantia Nigra	brain
18	chr8:94991800-94993200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:94991800-94993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:94991800-94993200	Enhancers	Colon Smooth Muscle	Colon
21	chr8:94991800-94993400	Enhancers	Stomach Smooth Muscle	stomach
22	chr8:94991800-94993600	Enhancers	Right Ventricle	heart
23	chr8:94992000-94992600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr8:94992000-94993000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:94992000-94993000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:94992000-94993200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:94992000-94993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:94992000-94993200	Enhancers	Adipose Nuclei	Adipose
29	chr8:94992000-94993200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:94992000-94993600	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:94992000-94995000	Weak transcription	Fetal Brain Male	brain
32	chr8:94992200-94992600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:94992200-94992800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:94992200-94992800	Enhancers	A549	lung
35	chr8:94992200-94993000	Enhancers	Hela-S3	cervix
36	chr8:94992200-94993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:94992400-94993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:94992400-94994800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:94992400-94995000	Weak transcription	Brain Anterior Caudate	brain
40	chr8:94992400-94997600	Weak transcription	Aorta	Aorta
41	chr8:94992400-94998000	Weak transcription	Esophagus	oesophagus
42	chr8:94992400-95000000	Weak transcription	Small Intestine	intestine
43	chr8:94992400-95003000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:94992400-95003200	Weak transcription	Colonic Mucosa	Colon

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