Variant report

Variant	rs1524514
Chromosome Location	chr3:179673066-179673067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12489992	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34638709	0.95[ASN][1000 genomes]
rs73055495	0.90[EUR][1000 genomes]
rs73057311	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73057355	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73057366	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060768	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9847354	0.85[ASN][1000 genomes]

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	nsv829807	chr3:179527567-179745153	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3359522	chr3:179672744-179673221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179660600-179680800	Weak transcription	Pancreas	Pancrea
2	chr3:179668000-179675200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:179671400-179673200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:179671400-179673200	Flanking Active TSS	Dnd41	blood
5	chr3:179671400-179674600	Enhancers	Fetal Thymus	thymus
6	chr3:179671800-179676400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:179672200-179674400	Enhancers	Thymus	Thymus
8	chr3:179672200-179676000	Weak transcription	Brain Anterior Caudate	brain
9	chr3:179672200-179679600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:179672400-179673800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:179672800-179674400	Weak transcription	Brain Angular Gyrus	brain
12	chr3:179672800-179674400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:179672800-179674800	Weak transcription	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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