Variant report

Variant	rs58236730
Chromosome Location	chr3:53700742-53700743
allele	G/T
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:16)

rs_ID	r²[population]
rs33970402	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55641883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55881044	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036565	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967878	1.00[AMR][1000 genomes]
rs72978521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978524	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978528	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978531	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978536	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73842064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7633188	0.93[AFR][1000 genomes];1.00[AMR][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:19 , 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	chr3:53689600-53707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:53692000-53707600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53694400-53701000	Weak transcription	Fetal Kidney	kidney
5	chr3:53696800-53706600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:53697600-53702400	Weak transcription	Liver	Liver
7	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:53698800-53711200	Weak transcription	Spleen	Spleen
9	chr3:53700000-53700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:53700000-53700800	Strong transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:53700000-53703400	Strong transcription	Fetal Lung	lung
12	chr3:53700200-53700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:53700200-53700800	Strong transcription	Brain Angular Gyrus	brain
14	chr3:53700200-53701000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:53700200-53701000	Genic enhancers	Fetal Intestine Small	intestine
16	chr3:53700400-53701400	Genic enhancers	Fetal Intestine Large	intestine
17	chr3:53700400-53708600	Weak transcription	Pancreas	Pancrea
18	chr3:53700600-53702800	Weak transcription	Lung	lung
19	chr3:53700600-53709800	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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