Variant report

Variant	rs72978534
Chromosome Location	chr3:53692781-53692782
allele	G/T
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:16)

rs_ID	r²[population]
rs33970402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55641883	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55881044	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58036565	1.00[AMR][1000 genomes]
rs58236730	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967859	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72967878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978521	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978524	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978531	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72978536	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73842064	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7633188	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53677600-53700000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:53684800-53698600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:53685800-53695800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:53689600-53707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:53691600-53693400	Enhancers	Fetal Lung	lung
7	chr3:53691800-53693800	Enhancers	Fetal Intestine Small	intestine
8	chr3:53692000-53693400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:53692000-53693400	Enhancers	Fetal Intestine Large	intestine
10	chr3:53692000-53707600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:53692400-53693000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr3:53692400-53693200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr3:53692400-53693400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:53692600-53694600	Weak transcription	Fetal Stomach	stomach

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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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