Variant report

Variant	rs11164973
Chromosome Location	chr1:94212125-94212126
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	chr1:94210546..94213196-chr1:94216011..94218265,2	K562	blood:
2	chr1:94210546..94212341-chr1:94215230..94217511,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10874797	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11164970	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164974	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11582870	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1884019	0.87[EUR][1000 genomes]
rs2092700	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2747036	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747037	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747038	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747040	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747042	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747044	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747047	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2747049	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2818161	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2818165	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2818166	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2818167	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4520428	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847184	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4847192	0.87[EUR][1000 genomes]
rs4847254	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4847257	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6541399	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6660210	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6667986	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6703684	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7523787	0.87[EUR][1000 genomes]
rs7552293	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs947343	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11164973	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs11164973	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs11164973	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs11164973	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11164973	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs11164973	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94199400-94217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94206000-94212600	Weak transcription	HMEC	breast
3	chr1:94206800-94212400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:94206800-94212400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:94208200-94215600	Weak transcription	Aorta	Aorta
6	chr1:94209400-94212400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94209400-94212600	Enhancers	NHEK	skin
8	chr1:94209800-94212600	Enhancers	Fetal Thymus	thymus
9	chr1:94210200-94212600	Enhancers	Esophagus	oesophagus
10	chr1:94210800-94215600	Weak transcription	Thymus	Thymus
11	chr1:94211000-94212400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:94211800-94212400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:94211800-94215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:94212000-94212200	Weak transcription	Primary B cells from peripheral blood	blood

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