Variant report

Variant	rs27982
Chromosome Location	chr5:111463837-111463838
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	chr5:111462802..111465280-chr5:111476047..111478895,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10515438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10515441	1.00[JPT][hapmap]
rs1366145	0.89[CHD][hapmap]
rs17134152	0.89[CEU][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs17134153	0.83[CEU][hapmap]
rs17134154	0.88[MEX][hapmap]
rs17134156	0.88[MEX][hapmap]
rs17265886	1.00[CHB][hapmap]
rs17266115	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17266727	1.00[CHB][hapmap]
rs17266771	1.00[CHB][hapmap]
rs17651424	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs2900060	0.82[ASN][1000 genomes]
rs56071312	0.87[EUR][1000 genomes]
rs56092269	0.87[EUR][1000 genomes]
rs57349429	0.87[EUR][1000 genomes]
rs57541807	0.82[ASN][1000 genomes]
rs60370278	0.82[ASN][1000 genomes]
rs6898536	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227487	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227490	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227492	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227493	0.82[ASN][1000 genomes]
rs73227496	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227498	0.82[ASN][1000 genomes]
rs73787775	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73787779	0.87[EUR][1000 genomes]
rs73787784	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7700588	0.89[CHD][hapmap]
rs7704736	1.00[JPT][hapmap]
rs7711555	1.00[CHB][hapmap]
rs7720344	1.00[CHB][hapmap]
rs7730334	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs919243	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27982	SNORA13	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111461800-111464000	Weak transcription	Fetal Muscle Leg	muscle

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