Variant report

Variant	rs1890295
Chromosome Location	chr1:219933998-219933999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:219933138..219934961-chr1:219936801..219939640,2	K562	blood:
2	chr1:219930436..219934638-chr1:219937139..219939640,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10495140	1.00[MKK][hapmap]
rs12022944	0.95[EUR][1000 genomes]
rs12027738	0.94[EUR][1000 genomes]
rs12028121	0.95[EUR][1000 genomes]
rs12028892	0.95[EUR][1000 genomes]
rs12035801	0.88[AMR][1000 genomes]
rs12044048	0.95[EUR][1000 genomes]
rs12048116	0.95[EUR][1000 genomes]
rs12048880	0.94[EUR][1000 genomes]
rs12567261	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12568237	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12568466	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1418748	0.94[EUR][1000 genomes]
rs1418749	0.94[EUR][1000 genomes]
rs1418750	0.94[EUR][1000 genomes]
rs1694594	0.89[MKK][hapmap]
rs17006547	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17006614	0.95[EUR][1000 genomes]
rs17552600	1.00[LWK][hapmap]
rs1776046	0.89[MKK][hapmap]
rs2275707	0.85[MKK][hapmap]
rs2378320	0.94[EUR][1000 genomes]
rs2378321	0.94[EUR][1000 genomes]
rs2378322	0.94[EUR][1000 genomes]
rs2378323	0.93[EUR][1000 genomes]
rs36130413	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36172598	0.89[EUR][1000 genomes]
rs4264002	0.94[EUR][1000 genomes]
rs4440861	0.94[EUR][1000 genomes]
rs61677257	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6662809	0.87[EUR][1000 genomes]
rs6678855	0.95[EUR][1000 genomes]
rs6691756	0.93[EUR][1000 genomes]
rs6696853	0.94[EUR][1000 genomes]
rs6697094	0.94[EUR][1000 genomes]
rs6697171	0.94[EUR][1000 genomes]
rs6698185	0.94[EUR][1000 genomes]
rs7523475	0.95[EUR][1000 genomes]
rs7526289	0.81[AMR][1000 genomes];0.86[EUR][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1890295	MOSC2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:219931800-219934200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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