Variant report

Variant	rs9310164
Chromosome Location	chr3:69599957-69599958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4855413	0.95[ASN][1000 genomes]
rs55638663	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6549231	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6549235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6549236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549238	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67465654	0.95[ASN][1000 genomes]
rs6762368	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9818139	0.97[ASN][1000 genomes]

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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3426797	chr3:69433086-69777229	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1004470	chr3:69597148-69728231	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9310164	PDZRN3	cis	parietal	SCAN
rs9310164	C7orf58	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69592400-69604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69592400-69607600	Weak transcription	Right Ventricle	heart
3	chr3:69592600-69600000	Weak transcription	Fetal Heart	heart
4	chr3:69595400-69600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:69598400-69600000	Weak transcription	Fetal Lung	lung
6	chr3:69598600-69602800	Weak transcription	Fetal Kidney	kidney
7	chr3:69599200-69600000	Enhancers	Brain Substantia Nigra	brain
8	chr3:69599400-69600200	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:69599600-69600200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:69599600-69600200	Enhancers	Ovary	ovary
11	chr3:69599800-69600200	Enhancers	Brain Hippocampus Middle	brain

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

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