Variant report

Variant	rs55819057
Chromosome Location	chr3:53729527-53729528
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12486415	0.87[EUR][1000 genomes]
rs12492502	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872999	0.91[EUR][1000 genomes]
rs1906537	0.84[EUR][1000 genomes]
rs2276836	0.90[EUR][1000 genomes]
rs2680658	0.87[EUR][1000 genomes]
rs34078083	0.91[EUR][1000 genomes]
rs3774515	0.80[EUR][1000 genomes]
rs55948017	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251938	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6763245	0.85[EUR][1000 genomes]
rs6793312	0.91[EUR][1000 genomes]
rs6806330	0.92[EUR][1000 genomes]
rs735652	0.92[EUR][1000 genomes]
rs7648561	0.95[EUR][1000 genomes];0.81[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53715600-53739600	Weak transcription	Brain Anterior Caudate	brain
3	chr3:53721000-53739800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53723200-53743400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:53724800-53739400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:53726600-53744000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr3:53726800-53731000	Strong transcription	Fetal Intestine Small	intestine
8	chr3:53726800-53743400	Weak transcription	Spleen	Spleen
9	chr3:53727400-53731400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:53727800-53730600	Strong transcription	Fetal Intestine Large	intestine
11	chr3:53727800-53735400	Weak transcription	Fetal Lung	lung
12	chr3:53728200-53729800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:53728400-53729600	Enhancers	Right Atrium	heart
14	chr3:53728800-53729600	Enhancers	Brain Substantia Nigra	brain
15	chr3:53729000-53730000	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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