Variant report

Variant	rs72804458
Chromosome Location	chr2:47044173-47044174
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:15)

rs_ID	r²[population]
rs17035709	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17824594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55980660	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56060227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56172110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72804436	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804437	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72804438	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804445	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72804446	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72804450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72804451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72804452	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72804469	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72804470	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47038600-47046400	Enhancers	Lung	lung
3	chr2:47038600-47046400	Enhancers	Right Atrium	heart
4	chr2:47038800-47046200	Enhancers	Right Ventricle	heart
5	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47040200-47044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:47040400-47045800	Weak transcription	HMEC	breast
8	chr2:47040600-47044800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:47040600-47045000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:47040600-47045200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:47040600-47045200	Weak transcription	HSMMtube	muscle
12	chr2:47041400-47044200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:47042000-47044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:47042200-47044200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:47042200-47045000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:47042400-47044400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:47042400-47044600	Weak transcription	Ovary	ovary
18	chr2:47042400-47044600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:47042400-47045000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:47042400-47047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:47042400-47048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:47042600-47044600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:47042600-47045000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:47042600-47045000	Weak transcription	NHDF-Ad	bronchial
25	chr2:47042800-47044400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:47042800-47044600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
28	chr2:47043400-47045000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:47043800-47044600	Flanking Active TSS	Placenta	Placenta
30	chr2:47043800-47045000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:47043800-47046400	Enhancers	Fetal Heart	heart
32	chr2:47043800-47046400	Enhancers	Left Ventricle	heart
33	chr2:47044000-47044200	Enhancers	Aorta	Aorta
34	chr2:47044000-47044200	Enhancers	Brain Anterior Caudate	brain
35	chr2:47044000-47044200	Enhancers	Small Intestine	intestine
36	chr2:47044000-47044400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:47044000-47044400	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:47044000-47044400	Active TSS	Spleen	Spleen
39	chr2:47044000-47045000	Enhancers	Esophagus	oesophagus
40	chr2:47044000-47046000	Enhancers	Colon Smooth Muscle	Colon
41	chr2:47044000-47046200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:47044000-47046200	Enhancers	Psoas Muscle	Psoas

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