Variant report

Variant	rs61452478
Chromosome Location	chr16:72231243-72231244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16970661	0.88[AFR][1000 genomes]
rs16970692	0.81[AFR][1000 genomes]
rs16970707	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970725	0.81[AMR][1000 genomes]
rs34417180	1.00[ASN][1000 genomes]
rs35549608	1.00[ASN][1000 genomes]
rs55771535	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60701149	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499566	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66929555	0.91[AFR][1000 genomes]
rs8054585	0.84[AFR][1000 genomes]
rs9302635	1.00[ASN][1000 genomes]
rs9930957	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72214800-72232800	Weak transcription	Pancreas	Pancrea
2	chr16:72222000-72235800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:72223000-72236400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72225800-72231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:72226000-72231400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:72226000-72231400	Weak transcription	NHDF-Ad	bronchial
7	chr16:72228600-72231600	Enhancers	Fetal Brain Male	brain
8	chr16:72228600-72236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:72228800-72236600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:72229200-72232800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:72229200-72234400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:72229200-72240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:72229600-72232000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr16:72230000-72231800	Enhancers	Brain Substantia Nigra	brain
15	chr16:72230200-72231600	Enhancers	Fetal Brain Female	brain
16	chr16:72230400-72232800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:72230600-72231600	Enhancers	Brain Angular Gyrus	brain
18	chr16:72230600-72232000	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:72230600-72232200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr16:72230800-72231400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:72230800-72231600	Enhancers	Brain Anterior Caudate	brain
22	chr16:72230800-72232400	Enhancers	Brain Hippocampus Middle	brain
23	chr16:72231000-72231600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:72231000-72232200	Enhancers	Brain Germinal Matrix	brain
25	chr16:72231000-72233200	Enhancers	Fetal Stomach	stomach
26	chr16:72231000-72234200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr16:72231000-72234600	Enhancers	Fetal Lung	lung
28	chr16:72231200-72233000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:72231200-72233200	Enhancers	Fetal Muscle Trunk	muscle
30	chr16:72231200-72234000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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