Variant report

Variant	rs11953038
Chromosome Location	chr5:146916243-146916244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10463277	0.97[EUR][1000 genomes]
rs10463278	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1126014	0.99[EUR][1000 genomes]
rs11949718	0.99[EUR][1000 genomes]
rs11951211	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12055156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108716	0.99[EUR][1000 genomes]
rs12109947	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1432846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432847	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1594660	0.83[ASN][1000 genomes]
rs17106850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17650890	0.99[EUR][1000 genomes]
rs1897560	0.83[ASN][1000 genomes]
rs1897561	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34055697	0.83[ASN][1000 genomes]
rs34506199	0.83[ASN][1000 genomes]
rs35983616	0.83[ASN][1000 genomes]
rs41410444	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41506250	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6580470	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs66795022	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67406727	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67599220	0.97[EUR][1000 genomes]
rs68165938	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871170	0.97[EUR][1000 genomes]
rs6876990	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6877330	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72833384	0.99[EUR][1000 genomes]
rs72833394	0.97[EUR][1000 genomes]
rs72833397	0.97[EUR][1000 genomes]
rs72833398	0.97[EUR][1000 genomes]
rs72833399	0.97[EUR][1000 genomes]
rs72833401	0.97[EUR][1000 genomes]
rs7713359	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7715946	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7716144	0.99[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11953038	POU4F3	cis	parietal	SCAN
rs11953038	SH3TC2	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146911600-146917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:146912400-146917600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:146913200-146916400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:146913200-146916800	Enhancers	NHLF	lung
5	chr5:146913200-146917000	Enhancers	NH-A	brain
6	chr5:146913600-146916800	Enhancers	Osteobl	bone
7	chr5:146914000-146917000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:146914000-146918600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:146914200-146916400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:146914200-146916800	Enhancers	HUVEC	blood vessel
11	chr5:146915000-146917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:146915000-146918000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:146915000-146918400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:146915200-146916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:146915200-146916600	Enhancers	Colon Smooth Muscle	Colon
16	chr5:146915600-146916400	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:146915600-146916600	Enhancers	NHDF-Ad	bronchial
18	chr5:146915600-146933400	Weak transcription	Ovary	ovary
19	chr5:146915800-146917800	Weak transcription	HMEC	breast
20	chr5:146915800-146918000	Weak transcription	HSMM	muscle
21	chr5:146915800-146918000	Weak transcription	HSMMtube	muscle
22	chr5:146916000-146917800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:146916000-146918600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:146916200-146918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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