Variant report

Variant	rs72621648
Chromosome Location	chr2:152708604-152708605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12624108	1.00[EUR][1000 genomes]
rs16830417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3768654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077123	1.00[EUR][1000 genomes]
rs59269531	1.00[EUR][1000 genomes]
rs72621646	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72621647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72621649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
2	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:152700000-152709000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:152700000-152710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:152700000-152713000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:152700000-152731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:152700000-152732600	Weak transcription	Right Atrium	heart
9	chr2:152702600-152709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:152706400-152709600	Weak transcription	A549	lung
11	chr2:152706600-152711200	Enhancers	HepG2	liver
12	chr2:152706800-152709800	Enhancers	Fetal Heart	heart
13	chr2:152707600-152709000	Enhancers	Hela-S3	cervix
14	chr2:152707800-152708800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:152707800-152710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:152708000-152709800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:152708000-152710400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:152708200-152710000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:152708400-152708800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:152708400-152708800	Flanking Active TSS	HSMMtube	muscle
21	chr2:152708400-152709200	Enhancers	HSMM	muscle
22	chr2:152708400-152709600	Enhancers	Psoas Muscle	Psoas
23	chr2:152708400-152710000	Enhancers	NH-A	brain
24	chr2:152708400-152710400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:152708600-152709200	Weak transcription	Left Ventricle	heart

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