Variant report

Variant	rs13105691
Chromosome Location	chr4:48469634-48469635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10024547	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10031120	0.82[EUR][1000 genomes]
rs11934876	0.89[ASN][1000 genomes]
rs13125511	0.82[EUR][1000 genomes]
rs13145421	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17655838	0.82[ASN][1000 genomes]
rs17655898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4413478	0.82[EUR][1000 genomes]
rs4695382	0.95[ASN][1000 genomes]
rs4695383	0.95[ASN][1000 genomes]
rs7434434	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7441842	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662325	0.83[ASN][1000 genomes]
rs7700141	0.89[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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48464400-48471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:48468600-48469800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:48469400-48469800	Enhancers	Brain Hippocampus Middle	brain
4	chr4:48469600-48470000	Active TSS	NHDF-Ad	bronchial
5	chr4:48469600-48470000	Enhancers	Osteobl	bone

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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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