Variant report

Variant	rs10172576
Chromosome Location	chr2:114581008-114581009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10173891	0.86[JPT][hapmap]
rs10185135	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10209659	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1028245	0.82[CEU][hapmap]
rs11123215	0.86[JPT][hapmap]
rs11676646	0.82[AFR][1000 genomes]
rs11895582	0.86[JPT][hapmap]
rs11895596	0.86[JPT][hapmap]
rs11903680	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13428539	0.86[JPT][hapmap]
rs1467292	0.86[JPT][hapmap]
rs1504043	0.86[JPT][hapmap]
rs3828257	0.86[JPT][hapmap]
rs4292100	0.81[AMR][1000 genomes]
rs4362566	0.86[JPT][hapmap]
rs4389338	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411702	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4450608	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848357	0.82[JPT][hapmap]
rs4849285	0.82[CEU][hapmap]
rs4849286	0.81[CEU][hapmap]
rs4849288	0.82[CEU][hapmap]
rs4849289	0.83[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4849290	0.82[CEU][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4849291	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs62170141	0.80[EUR][1000 genomes]
rs62170145	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62170146	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62170148	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6705329	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706992	0.86[JPT][hapmap]
rs6724586	0.86[JPT][hapmap]
rs6732402	0.86[JPT][hapmap]
rs6741741	0.86[JPT][hapmap]
rs6741785	0.85[JPT][hapmap]
rs6742452	0.86[JPT][hapmap]
rs6747278	1.00[JPT][hapmap]
rs72835407	0.80[EUR][1000 genomes]
rs72948684	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7561061	0.86[JPT][hapmap]
rs7589706	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs924804	0.86[JPT][hapmap]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs10172576	DDX11L2	cis	Heart Left Ventricle	GTEx
rs10172576	SLC35F5	cis	Thyroid	GTEx
rs10172576	DDX11L2	cis	Adipose Subcutaneous	GTEx
rs10172576	RPL23AP7	cis	Whole Blood	GTEx
rs10172576	DDX11L2	cis	lung	GTEx
rs10172576	MGC70863	trans	multi-tissue	Pritchard
rs10172576	RPL23AP7	cis	Artery Tibial	GTEx
rs10172576	CHCHD5	cis	cerebellum	SCAN
rs10172576	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs10172576	DDX11L2	cis	Esophagus Mucosa	GTEx
rs10172576	RPL23AP7	cis	multi-tissue	Pritchard
rs10172576	DDX11L2	cis	Artery Tibial	GTEx
rs10172576	DDX11L2	cis	Whole Blood	GTEx

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	chr2:114576400-114582800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:114576400-114588400	Weak transcription	Esophagus	oesophagus
5	chr2:114577000-114583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:114577200-114582200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:114577200-114584600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:114578000-114581400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:114578200-114582200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:114580400-114583800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:114580400-114588600	Weak transcription	K562	blood
12	chr2:114580800-114581800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:114581000-114581400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:114581000-114582400	Enhancers	NHDF-Ad	bronchial

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