Variant report

Variant	rs62293072
Chromosome Location	chr3:179660694-179660695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13071231	0.95[EUR][1000 genomes]
rs13093050	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404272	0.98[EUR][1000 genomes]
rs17692126	0.95[EUR][1000 genomes]
rs34061679	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62293070	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829807	chr3:179527567-179745153	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179656600-179664200	Strong transcription	Dnd41	blood
2	chr3:179659800-179660800	Flanking Active TSS	Brain Hippocampus Middle	brain
3	chr3:179660000-179660800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:179660200-179660800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:179660400-179660800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:179660400-179660800	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr3:179660400-179660800	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr3:179660400-179660800	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr3:179660400-179667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:179660600-179660800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:179660600-179660800	Enhancers	Adipose Nuclei	Adipose
12	chr3:179660600-179660800	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr3:179660600-179660800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:179660600-179660800	Active TSS	NH-A	brain
15	chr3:179660600-179661200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:179660600-179661200	Enhancers	Fetal Thymus	thymus
17	chr3:179660600-179661400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:179660600-179661400	Enhancers	Fetal Brain Female	brain
19	chr3:179660600-179661600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:179660600-179661800	Enhancers	Brain Germinal Matrix	brain
21	chr3:179660600-179662200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:179660600-179666400	Weak transcription	Fetal Kidney	kidney
23	chr3:179660600-179666600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:179660600-179666800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:179660600-179667400	Weak transcription	Thymus	Thymus
26	chr3:179660600-179680800	Weak transcription	Pancreas	Pancrea

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