Variant report

Variant	rs4944970
Chromosome Location	chr11:74748119-74748120
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10793112	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899054	0.81[AMR][1000 genomes]
rs10899059	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10899060	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10899061	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899064	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899065	0.88[ASN][1000 genomes]
rs11236282	0.81[AMR][1000 genomes]
rs11236290	0.81[AMR][1000 genomes]
rs11236296	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11236303	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236304	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236306	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11236307	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236309	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236310	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236311	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236313	0.91[EUR][1000 genomes]
rs11600328	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11603294	0.81[AMR][1000 genomes]
rs12223822	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12226763	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12577127	0.81[AMR][1000 genomes]
rs4387374	0.81[AMR][1000 genomes]
rs4456280	0.91[EUR][1000 genomes]
rs4531492	0.90[ASN][1000 genomes]
rs4554917	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944968	0.81[AMR][1000 genomes]
rs4944971	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56194145	0.82[AMR][1000 genomes]
rs56885894	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7106757	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7109716	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7482760	0.88[ASN][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs4944970	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs4944970	XRRA1	cis	Esophagus Muscularis	GTEx
rs4944970	XRRA1	cis	Whole Blood	GTEx
rs4944970	XRRA1	cis	Nerve Tibial	GTEx
rs4944970	XRRA1	cis	Artery Aorta	GTEx
rs4944970	XRRA1	cis	Adipose Subcutaneous	GTEx
rs4944970	XRRA1	cis	Esophagus Mucosa	GTEx
rs4944970	XRRA1	cis	Heart Left Ventricle	GTEx
rs4944970	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs4944970	XRRA1	cis	Artery Tibial	GTEx
rs4944970	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs4944970	RP11-147I3.1	cis	Thyroid	GTEx
rs4944970	XRRA1	cis	Thyroid	GTEx
rs4944970	XRRA1	cis	Muscle Skeletal	GTEx
rs4944970	XRRA1	cis	lung	GTEx
rs4944970	XRRA1	cis	Stomach	GTEx
rs4944970	RP11-147I3.1	cis	lung	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74742200-74748600	Enhancers	Fetal Intestine Small	intestine
2	chr11:74743000-74751800	Weak transcription	Right Atrium	heart
3	chr11:74743200-74748800	Weak transcription	Spleen	Spleen
4	chr11:74746400-74748200	Enhancers	Placenta	Placenta
5	chr11:74747000-74748200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:74747200-74748200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:74747400-74751200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:74747400-74751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:74747800-74750800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:74747800-74751200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:74748000-74748400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:74748000-74751200	Weak transcription	K562	blood

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