Variant report

Variant	rs7716144
Chromosome Location	chr5:146912107-146912108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10463277	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10463278	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1126014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951211	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953038	0.99[EUR][1000 genomes]
rs12055156	0.99[EUR][1000 genomes]
rs12108716	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109947	0.96[EUR][1000 genomes]
rs1432846	0.99[EUR][1000 genomes]
rs1432847	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17106850	0.99[EUR][1000 genomes]
rs17650890	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897561	0.99[EUR][1000 genomes]
rs41410444	0.99[EUR][1000 genomes]
rs41506250	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6580470	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795022	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67406727	0.99[EUR][1000 genomes]
rs67599220	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68165938	0.99[EUR][1000 genomes]
rs6871170	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6876990	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6877330	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72833384	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72833394	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72833397	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72833398	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72833399	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72833401	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7713359	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7715946	0.97[EUR][1000 genomes]
rs7726760	1.00[CHB][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7716144	CA2	trans	cerebellum	SCAN
rs7716144	POU4F3	cis	parietal	SCAN
rs7716144	SH3TC2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146910000-146912200	Enhancers	HUVEC	blood vessel
2	chr5:146910000-146912400	Enhancers	HMEC	breast
3	chr5:146910200-146912200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:146910200-146912200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:146910200-146912200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:146910200-146912400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:146910200-146912400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:146910400-146912200	Enhancers	NHEK	skin
9	chr5:146910800-146914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:146911000-146912400	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:146911200-146912400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:146911200-146914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:146911400-146913800	Weak transcription	NHDF-Ad	bronchial
14	chr5:146911400-146914400	Weak transcription	HSMM	muscle
15	chr5:146911600-146917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:146911800-146912200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:146912000-146913200	Weak transcription	NH-A	brain
18	chr5:146912000-146913200	Weak transcription	NHLF	lung
19	chr5:146912000-146913600	Weak transcription	Osteobl	bone
20	chr5:146912000-146913800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:146912000-146914000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:146912000-146915200	Weak transcription	Colon Smooth Muscle	Colon

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