Variant report

Variant	rs1450053
Chromosome Location	chr3:132884215-132884216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10935049	0.85[ASN][1000 genomes]
rs11707664	0.89[ASN][1000 genomes]
rs11714776	0.85[ASN][1000 genomes]
rs2197968	0.81[ASN][1000 genomes]
rs55702045	0.85[ASN][1000 genomes]
rs55809592	0.92[ASN][1000 genomes]
rs55951129	0.91[ASN][1000 genomes]
rs56135248	0.85[ASN][1000 genomes]
rs57848251	0.85[ASN][1000 genomes]
rs66984248	0.84[ASN][1000 genomes]
rs7630252	0.81[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs7642901	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs9839940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][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	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1450053	ASTE1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132879000-132888800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:132881400-132892000	Weak transcription	Fetal Lung	lung
3	chr3:132882200-132888200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:132882800-132884800	Enhancers	Brain Hippocampus Middle	brain
5	chr3:132883000-132884600	Strong transcription	HSMM	muscle
6	chr3:132883400-132884800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:132883600-132885400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:132883600-132886200	Weak transcription	Brain Germinal Matrix	brain
9	chr3:132883600-132887600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:132883600-132888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:132883600-132888000	Weak transcription	Fetal Brain Female	brain
12	chr3:132884200-132886400	Weak transcription	Fetal Brain Male	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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