Variant report

Variant	rs1571572
Chromosome Location	chr9:110495796-110495797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6477593	1.00[CEU][hapmap];0.81[MEX][hapmap];0.89[EUR][1000 genomes]
rs7036850	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1571572	ZNF462	cis	cerebellum	SCAN
rs1571572	TMEM38B	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110492800-110496000	Enhancers	Fetal Muscle Trunk	muscle
2	chr9:110494200-110497400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:110494200-110499200	Enhancers	Placenta	Placenta
4	chr9:110494400-110497400	Enhancers	Fetal Brain Female	brain
5	chr9:110494600-110496400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:110494800-110496200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:110494800-110497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:110494800-110497400	Enhancers	Fetal Brain Male	brain
9	chr9:110494800-110497800	Enhancers	Fetal Stomach	stomach
10	chr9:110495000-110496000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr9:110495000-110496000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:110495000-110496200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:110495000-110496200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr9:110495000-110496200	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr9:110495000-110496200	Enhancers	Brain Germinal Matrix	brain
16	chr9:110495000-110496200	Enhancers	Left Ventricle	heart
17	chr9:110495000-110496200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr9:110495000-110496200	Enhancers	Small Intestine	intestine
19	chr9:110495000-110496200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr9:110495000-110496200	Flanking Active TSS	Osteobl	bone
21	chr9:110495000-110496800	Enhancers	Colonic Mucosa	Colon
22	chr9:110495000-110497200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr9:110495000-110497400	Enhancers	Esophagus	oesophagus
24	chr9:110495000-110497400	Enhancers	Psoas Muscle	Psoas
25	chr9:110495200-110495800	Weak transcription	Pancreas	Pancrea
26	chr9:110495200-110495800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr9:110495200-110496000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:110495200-110496000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:110495200-110496000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr9:110495200-110496000	Flanking Active TSS	A549	lung
31	chr9:110495200-110496200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:110495200-110496200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr9:110495200-110496200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:110495200-110496200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:110495200-110496200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:110495200-110496200	Flanking Active TSS	Liver	Liver
37	chr9:110495200-110496200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr9:110495200-110496200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr9:110495200-110496200	Flanking Active TSS	Hela-S3	cervix
40	chr9:110495200-110496200	Flanking Active TSS	HSMM	muscle
41	chr9:110495200-110496200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr9:110495200-110496200	Flanking Active TSS	NHLF	lung
43	chr9:110495200-110497400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:110495200-110498800	Weak transcription	Lung	lung
45	chr9:110495200-110501800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:110495400-110495800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:110495400-110495800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:110495400-110495800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:110495400-110495800	Active TSS	Aorta	Aorta
50	chr9:110495400-110495800	Active TSS	Brain Angular Gyrus	brain

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