Variant report

Variant	rs62170142
Chromosome Location	chr2:114572796-114572797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11903680	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4292100	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4389338	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4450608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62170141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62170143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62170145	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62170146	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62170148	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66867371	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6705329	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6715643	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72835407	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589706	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829622	chr2:114571755-114572937	Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs62170142	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs62170142	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs62170142	RPL23AP7	cis	Whole Blood	GTEx
rs62170142	DDX11L2	cis	Heart Left Ventricle	GTEx
rs62170142	DDX11L2	cis	lung	GTEx
rs62170142	RPL23AP7	cis	Artery Tibial	GTEx
rs62170142	DDX11L2	cis	Muscle Skeletal	GTEx
rs62170142	SLC35F5	cis	Thyroid	GTEx
rs62170142	DDX11L2	cis	Esophagus Mucosa	GTEx
rs62170142	DDX11L2	cis	Whole Blood	GTEx

Chromatin state (count:10 , 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	chr2:114570000-114575800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:114570200-114575400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:114570200-114575400	Weak transcription	A549	lung
6	chr2:114570200-114575400	Weak transcription	NHDF-Ad	bronchial
7	chr2:114570200-114575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:114570400-114575400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114570600-114575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:114571800-114576000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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