Variant report

Variant	rs57106417
Chromosome Location	chr2:114583321-114583322
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	chr2:114583209..114585291-chr2:114603367..114605594,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10185135	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10209659	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1028245	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123214	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11675908	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676646	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11684182	0.81[ASN][1000 genomes]
rs11685296	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685654	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11691664	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403401	0.80[ASN][1000 genomes]
rs35167892	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241126	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4292100	0.88[AFR][1000 genomes]
rs4411702	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4571059	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849285	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849287	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849288	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849289	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4849290	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4849291	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849294	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61050591	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62170141	0.85[AFR][1000 genomes]
rs62170143	0.85[AFR][1000 genomes]
rs62170146	0.82[AFR][1000 genomes]
rs62170148	0.85[AFR][1000 genomes]
rs62170155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62170159	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62171760	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62171761	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62171768	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62171769	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542180	0.81[ASN][1000 genomes]
rs72835407	0.85[AFR][1000 genomes]
rs72948684	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7579001	0.84[ASN][1000 genomes]
rs9646927	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs57106417	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs57106417	DDX11L2	cis	Heart Left Ventricle	GTEx
rs57106417	DDX11L2	cis	Whole Blood	GTEx
rs57106417	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs57106417	RPL23AP7	cis	Whole Blood	GTEx
rs57106417	DDX11L2	cis	Esophagus Muscularis	GTEx
rs57106417	DDX11L2	cis	lung	GTEx
rs57106417	SLC35F5	cis	Thyroid	GTEx
rs57106417	DDX11L2	cis	Esophagus Mucosa	GTEx
rs57106417	RPL23AP7	cis	Artery Aorta	GTEx
rs57106417	RPL23AP7	cis	Artery Tibial	GTEx
rs57106417	ACTR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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	chr2:114576400-114588400	Weak transcription	Esophagus	oesophagus
4	chr2:114577000-114583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:114577200-114584600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:114580400-114583800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:114580400-114588600	Weak transcription	K562	blood
8	chr2:114581800-114585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:114582200-114583400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:114582200-114586000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:114582400-114586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:114582800-114584600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:114583200-114584400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:114583200-114584600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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