Variant report

Variant	rs41276543
Chromosome Location	chr3:53825298-53825299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13316067	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3774593	0.92[AMR][1000 genomes]
rs60758807	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61616709	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7652251	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv1003204	chr3:53820070-53877149	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1002375	chr3:53822319-53872753	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876803	chr3:53822893-53889849	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53807600-53829800	Weak transcription	Brain Angular Gyrus	brain
2	chr3:53808200-53827800	Strong transcription	Fetal Intestine Small	intestine
3	chr3:53808800-53830200	Weak transcription	Pancreas	Pancrea
4	chr3:53811400-53838600	Weak transcription	Spleen	Spleen
5	chr3:53811600-53843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:53815200-53829000	Weak transcription	Brain Anterior Caudate	brain
7	chr3:53815200-53829400	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:53815400-53829800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:53818200-53826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:53819600-53830000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:53822800-53828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:53822800-53828800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:53822800-53832000	Weak transcription	Fetal Lung	lung
14	chr3:53823800-53832200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:53824000-53828800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:53824400-53827600	Enhancers	Fetal Thymus	thymus
17	chr3:53824400-53832000	Weak transcription	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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