Variant report

Variant	rs58374233
Chromosome Location	chr3:53761317-53761318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60757638	1.00[AMR][1000 genomes]
rs73840930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73841000	1.00[AMR][1000 genomes]
rs73842094	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv1007655	chr3:53742148-53767689	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002452	chr3:53742148-53802811	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1000280	chr3:53742736-53770588	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53740200-53764400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea
3	chr3:53744200-53764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:53744400-53763800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:53745200-53762800	Strong transcription	Fetal Intestine Large	intestine
6	chr3:53753600-53766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:53754200-53763600	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:53755200-53761600	Strong transcription	Fetal Intestine Small	intestine
9	chr3:53755200-53764400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:53755600-53764400	Weak transcription	Brain Anterior Caudate	brain
11	chr3:53756600-53763800	Strong transcription	Fetal Lung	lung
12	chr3:53756800-53763400	Weak transcription	Fetal Brain Male	brain
13	chr3:53758000-53763000	Weak transcription	Liver	Liver
14	chr3:53759400-53764400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:53759800-53761800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:53761000-53761600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:53761000-53761600	Strong transcription	Lung	lung
18	chr3:53761000-53761600	Strong transcription	Spleen	Spleen
19	chr3:53761000-53761800	Strong transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:53761200-53761600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr3:53761200-53761800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr3:53761200-53764600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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