Variant report

Variant	rs4292100
Chromosome Location	chr2:114571647-114571648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114567212..114568945-chr2:114569443..114571759,2	K562	blood:
2	chr2:114564116..114565859-chr2:114571002..114572521,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs10172576	0.81[AMR][1000 genomes]
rs1028245	0.80[AFR][1000 genomes]
rs11675908	0.88[AFR][1000 genomes]
rs11685296	0.80[AFR][1000 genomes]
rs11691664	0.88[AFR][1000 genomes]
rs11903680	0.82[AMR][1000 genomes]
rs35167892	0.88[AFR][1000 genomes]
rs4241126	0.80[AFR][1000 genomes]
rs4450608	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4571059	0.80[AFR][1000 genomes]
rs4848353	0.81[AMR][1000 genomes]
rs4849285	0.88[AFR][1000 genomes]
rs4849286	0.88[AFR][1000 genomes]
rs4849287	0.80[AFR][1000 genomes]
rs4849288	0.88[AFR][1000 genomes]
rs4849291	0.88[AFR][1000 genomes]
rs57106417	0.88[AFR][1000 genomes]
rs61050591	0.88[AFR][1000 genomes]
rs62170141	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62170142	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62170143	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62170145	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62170146	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62170148	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62170155	0.88[AFR][1000 genomes]
rs62170159	0.84[AFR][1000 genomes]
rs62171760	0.85[AFR][1000 genomes]
rs62171761	0.88[AFR][1000 genomes]
rs66867371	0.80[ASN][1000 genomes]
rs6705329	0.82[AMR][1000 genomes]
rs6715643	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs72835407	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7589706	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4292100	DDX11L2	cis	Heart Left Ventricle	GTEx
rs4292100	SLC35F5	cis	Thyroid	GTEx
rs4292100	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs4292100	RPL23AP7	cis	Artery Tibial	GTEx
rs4292100	DDX11L2	cis	Whole Blood	GTEx
rs4292100	RPL23AP7	cis	Whole Blood	GTEx
rs4292100	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs4292100	DDX11L2	cis	Skin Sun Exposed Lower leg	GTEx
rs4292100	DDX11L2	cis	lung	GTEx
rs4292100	RPL23AP7	cis	Artery Aorta	GTEx
rs4292100	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs4292100	DDX11L2	cis	Esophagus Mucosa	GTEx
rs4292100	DDX11L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114567400-114576000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:114568200-114586000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:114570000-114572600	Weak transcription	Right Ventricle	heart
4	chr2:114570000-114575800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:114570200-114575400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114570200-114575400	Weak transcription	A549	lung
7	chr2:114570200-114575400	Weak transcription	NHDF-Ad	bronchial
8	chr2:114570200-114575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:114570400-114575400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:114570600-114575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:114571000-114571800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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