Variant report

Variant	rs17418111
Chromosome Location	chr2:55146652-55146653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55145921..55147506-chr2:55166901..55168744,2	K562	blood:
2	chr2:55141860..55143829-chr2:55146556..55148555,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10196667	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs10205017	0.85[EUR][1000 genomes]
rs10746530	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs11125551	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs11904457	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12475185	0.93[ASN][1000 genomes]
rs12989576	0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs13002841	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13008105	0.93[ASN][1000 genomes]
rs13020490	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13023202	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13026576	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13028800	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17417648	0.82[CHB][hapmap]
rs2116491	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2304685	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2580766	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2588520	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2919125	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34227740	1.00[AFR][1000 genomes]
rs34564860	1.00[AFR][1000 genomes]
rs36024305	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36063689	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4233956	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4504034	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4525735	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4671233	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671998	0.97[ASN][1000 genomes]
rs55777421	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6545462	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs67721747	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7559248	1.00[AFR][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17418111	RTN4	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain
4	chr2:55134400-55153600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55143200-55147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:55146600-55146800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:55146600-55146800	Enhancers	Pancreas	Pancrea

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