Variant report

Variant	rs3812532
Chromosome Location	chr9:73483594-73483595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr9:73483384-73484162	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
TRPM3	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10081686	0.89[ASN][1000 genomes]
rs10081694	0.89[ASN][1000 genomes]
rs1157298	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7038817	0.88[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3812532	FAM122A	cis	parietal	SCAN
rs3812532	SMC5	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73457200-73485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:73481000-73483800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:73481800-73484400	Active TSS	Fetal Kidney	kidney
4	chr9:73482200-73484400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr9:73482200-73484400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr9:73482400-73484200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr9:73482600-73484400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:73482600-73484600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:73483000-73483600	Enhancers	Liver	Liver
10	chr9:73483000-73484200	Active TSS	Fetal Heart	heart
11	chr9:73483000-73484600	Active TSS	Right Atrium	heart
12	chr9:73483200-73484200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:73483400-73483600	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr9:73483400-73483600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:73483400-73483600	Enhancers	Stomach Mucosa	stomach
16	chr9:73483400-73484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:73483400-73484000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:73483400-73484200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:73483400-73484200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:73483400-73484200	Active TSS	Adipose Nuclei	Adipose
21	chr9:73483400-73484200	Active TSS	Brain Anterior Caudate	brain
22	chr9:73483400-73484200	Active TSS	Brain Hippocampus Middle	brain
23	chr9:73483400-73484200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr9:73483400-73484200	Active TSS	Brain Substantia Nigra	brain
25	chr9:73483400-73484200	Active TSS	Duodenum Mucosa	Duodenum
26	chr9:73483400-73484200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr9:73483400-73484200	Active TSS	Fetal Intestine Small	intestine
28	chr9:73483400-73484200	Active TSS	Fetal Stomach	stomach
29	chr9:73483400-73484200	Active TSS	Fetal Thymus	thymus
30	chr9:73483400-73484200	Active TSS	HSMMtube	muscle
31	chr9:73483400-73484200	Bivalent/Poised TSS	NHDF-Ad	bronchial
32	chr9:73483400-73484200	Bivalent/Poised TSS	NHEK	skin
33	chr9:73483400-73484400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:73483400-73484400	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:73483400-73484400	Active TSS	Stomach Smooth Muscle	stomach
36	chr9:73483400-73484400	Active TSS	HUVEC	blood vessel
37	chr9:73483400-73484600	Active TSS	Aorta	Aorta
38	chr9:73483400-73484600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr9:73483400-73484600	Active TSS	Ovary	ovary

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