Variant report

Variant	rs469716
Chromosome Location	chr5:112292986-112292987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10463645	0.81[CHB][hapmap]
rs149192	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs149502	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs153558	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs153562	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs153566	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs153568	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs153571	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1625623	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs173466	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2080899	0.81[CHB][hapmap]
rs455412	1.00[JPT][hapmap]
rs469523	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs469675	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs469702	0.99[EUR][1000 genomes]
rs7733267	0.81[CHB][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	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs469716	SRP19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112289400-112293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112291600-112297600	Enhancers	HepG2	liver
3	chr5:112291800-112294400	Enhancers	Brain Germinal Matrix	brain
4	chr5:112292200-112294400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:112292400-112293400	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:112292600-112293800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:112292600-112294200	Flanking Active TSS	A549	lung
8	chr5:112292600-112295000	Enhancers	Hela-S3	cervix
9	chr5:112292600-112295200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:112292800-112293200	Enhancers	Fetal Lung	lung
11	chr5:112292800-112293800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:112292800-112293800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:112292800-112294800	Enhancers	Fetal Brain Female	brain
14	chr5:112292800-112295200	Enhancers	Adipose Nuclei	Adipose
15	chr5:112292800-112295600	Weak transcription	Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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