Variant report

Variant	rs10489519
Chromosome Location	chr1:192690943-192690944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10429900	0.85[AMR][1000 genomes]
rs10737613	0.82[AMR][1000 genomes]
rs10737615	0.81[AMR][1000 genomes]
rs10737616	0.83[AMR][1000 genomes]
rs10754025	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10754026	0.81[AMR][1000 genomes]
rs10754027	0.82[AMR][1000 genomes]
rs10754029	0.81[AMR][1000 genomes]
rs10801143	0.82[AMR][1000 genomes]
rs10801144	0.82[AMR][1000 genomes]
rs10801145	0.82[AMR][1000 genomes]
rs10801146	0.82[AMR][1000 genomes]
rs10801147	0.84[AMR][1000 genomes]
rs10921229	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs10921239	0.84[EUR][1000 genomes]
rs10921248	0.85[AMR][1000 genomes]
rs10921252	0.83[AMR][1000 genomes]
rs10921253	0.82[AMR][1000 genomes]
rs10921254	0.82[AMR][1000 genomes]
rs10921255	0.83[AMR][1000 genomes]
rs10921256	0.82[AMR][1000 genomes]
rs12022694	0.85[AMR][1000 genomes]
rs12027961	0.81[AMR][1000 genomes]
rs12030009	0.82[AMR][1000 genomes]
rs12118386	0.89[CEU][hapmap]
rs12143838	0.81[AMR][1000 genomes]
rs12145127	0.81[AMR][1000 genomes]
rs12408837	0.80[AMR][1000 genomes]
rs12409129	0.81[AMR][1000 genomes]
rs12410029	0.81[AMR][1000 genomes]
rs12568780	0.84[AMR][1000 genomes]
rs12728622	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12741484	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418720	0.81[AMR][1000 genomes]
rs1418721	0.81[AMR][1000 genomes]
rs1592232	0.82[AMR][1000 genomes]
rs1592233	0.82[AMR][1000 genomes]
rs1933701	0.82[AMR][1000 genomes]
rs1933702	0.83[AMR][1000 genomes]
rs1933709	0.87[EUR][1000 genomes]
rs1933711	0.91[EUR][1000 genomes]
rs2146603	0.82[AMR][1000 genomes]
rs2146604	0.81[AMR][1000 genomes]
rs2146606	0.82[AMR][1000 genomes]
rs2296021	0.81[CEU][hapmap]
rs2369895	0.82[AMR][1000 genomes]
rs2369896	0.81[AMR][1000 genomes]
rs3767489	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs720829	0.81[AMR][1000 genomes]
rs7522463	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7525732	0.82[AMR][1000 genomes]
rs7534794	0.82[AMR][1000 genomes]
rs7535996	0.81[AMR][1000 genomes]
rs7537443	0.82[AMR][1000 genomes]
rs7545839	0.81[AMR][1000 genomes]
rs9287126	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv946550	chr1:192682340-192691443	Weak transcription Enhancers Active TSS	TF binding region miRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10489519	RGS2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192690600-192695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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