Variant report

Variant	rs62170148
Chromosome Location	chr2:114577728-114577729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10172576	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11675908	0.85[AFR][1000 genomes]
rs11691664	0.85[AFR][1000 genomes]
rs11903680	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35167892	0.85[AFR][1000 genomes]
rs4292100	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4389338	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4450608	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4848353	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4849285	0.85[AFR][1000 genomes]
rs4849286	0.85[AFR][1000 genomes]
rs4849288	0.85[AFR][1000 genomes]
rs4849291	0.85[AFR][1000 genomes]
rs57106417	0.85[AFR][1000 genomes]
rs61050591	0.85[AFR][1000 genomes]
rs62170141	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62170142	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62170143	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62170145	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62170146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62170155	0.85[AFR][1000 genomes]
rs62170159	0.82[AFR][1000 genomes]
rs62171760	0.82[AFR][1000 genomes]
rs62171761	0.85[AFR][1000 genomes]
rs66867371	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705329	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6715643	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72835407	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7589706	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs62170148	RPL23AP7	cis	Whole Blood	GTEx
rs62170148	DDX11L2	cis	Whole Blood	GTEx
rs62170148	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs62170148	DDX11L2	cis	Esophagus Mucosa	GTEx
rs62170148	DDX11L2	cis	lung	GTEx
rs62170148	DDX11L2	cis	Heart Left Ventricle	GTEx
rs62170148	SLC35F5	cis	Thyroid	GTEx
rs62170148	DDX11L2	cis	Muscle Skeletal	GTEx
rs62170148	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs62170148	RPL23AP7	cis	Artery Tibial	GTEx
rs62170148	RPL23AP7	cis	Heart Left Ventricle	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114568200-114586000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:114574200-114603600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:114575400-114578000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:114575400-114578200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:114575400-114578200	Enhancers	Fetal Intestine Large	intestine
6	chr2:114576200-114578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:114576200-114578800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:114576400-114578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:114576400-114579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:114576400-114580000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:114576400-114582800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:114576400-114588400	Weak transcription	Esophagus	oesophagus
13	chr2:114576600-114577800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:114576800-114578000	Enhancers	HepG2	liver
15	chr2:114577000-114578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:114577000-114578000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:114577000-114579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:114577000-114579800	Weak transcription	NHDF-Ad	bronchial
19	chr2:114577000-114583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:114577200-114578200	Enhancers	Ovary	ovary
21	chr2:114577200-114579400	Weak transcription	K562	blood
22	chr2:114577200-114579600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:114577200-114582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:114577200-114584600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:114577400-114577800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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