Variant report

Variant	rs66488313
Chromosome Location	chr6:26631568-26631569
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs13198716	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13201782	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35144506	0.80[AMR][1000 genomes]
rs35400317	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs45527431	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67777156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs66488313	BTN3A2	cis	Artery Tibial	GTEx
rs66488313	BTN3A2	cis	Adipose Subcutaneous	GTEx
rs66488313	BTN3A2	cis	Artery Aorta	GTEx
rs66488313	BTN3A2	cis	Whole Blood	GTEx
rs66488313	BTN3A2	cis	Muscle Skeletal	GTEx
rs66488313	BTN3A2	cis	Skin Sun Exposed Lower leg	GTEx
rs66488313	BTN3A2	cis	lung	GTEx
rs66488313	BTN3A2	cis	Esophagus Muscularis	GTEx
rs66488313	BTN3A2	cis	Thyroid	GTEx
rs66488313	BTN3A2	cis	Nerve Tibial	GTEx
rs66488313	BTN3A2	cis	Esophagus Mucosa	GTEx
rs66488313	BTN3A2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26625400-26639200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:26629400-26639200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:26629600-26635400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:26629800-26640000	Weak transcription	Left Ventricle	heart
5	chr6:26630400-26640000	Weak transcription	Aorta	Aorta
6	chr6:26630600-26633600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:26630800-26632800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:26631200-26633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:26631200-26633400	Weak transcription	HSMM	muscle
10	chr6:26631200-26633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:26631200-26634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:26631400-26633000	Weak transcription	Gastric	stomach
13	chr6:26631400-26634600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:26631400-26639000	Weak transcription	Brain Inferior Temporal Lobe	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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