Variant report

Variant	rs3114135
Chromosome Location	chr4:82126316-82126317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1452366	0.90[JPT][hapmap]
rs1662845	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1712387	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839968	0.90[JPT][hapmap]
rs710835	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs710838	0.83[EUR][1000 genomes]
rs788855	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs788859	0.84[ASN][1000 genomes]
rs788860	0.95[CEU][hapmap]
rs788861	0.95[CEU][hapmap]
rs788862	0.81[EUR][1000 genomes]
rs788863	0.83[EUR][1000 genomes]
rs788864	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	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
rs3114135	PAQR3	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82122200-82127800	Weak transcription	NHDF-Ad	bronchial
2	chr4:82122200-82128400	Weak transcription	NHLF	lung
3	chr4:82122200-82129400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:82125000-82126400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:82125400-82126400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82125400-82130600	Enhancers	Fetal Intestine Large	intestine
7	chr4:82125800-82126400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:82125800-82127000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:82126000-82126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:82126200-82126800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:82126200-82126800	Enhancers	Fetal Intestine Small	intestine

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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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