Variant report

Variant	rs66828967
Chromosome Location	chr4:77005018-77005019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12510869	0.81[AFR][1000 genomes]
rs13134119	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13134121	0.84[AFR][1000 genomes]
rs17001357	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859422	0.84[AFR][1000 genomes]
rs4859611	0.91[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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66828967	NAAA	cis	Esophagus Mucosa	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76997000-77007200	Weak transcription	Fetal Brain Male	brain
2	chr4:76997000-77008000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:76999000-77008200	Weak transcription	Right Ventricle	heart
4	chr4:76999600-77008000	Weak transcription	Liver	Liver
5	chr4:77001000-77005800	Weak transcription	Fetal Heart	heart
6	chr4:77001000-77006200	Weak transcription	Left Ventricle	heart
7	chr4:77003800-77008000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:77003800-77008000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:77003800-77008000	Weak transcription	K562	blood
10	chr4:77003800-77008200	Weak transcription	Fetal Thymus	thymus
11	chr4:77004800-77005800	Weak transcription	Psoas Muscle	Psoas
12	chr4:77004800-77008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:77004800-77008000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:77004800-77008000	Weak transcription	Right Atrium	heart
15	chr4:77005000-77005400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:77005000-77007800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:77005000-77008000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:77005000-77008000	Weak transcription	NHEK	skin
19	chr4:77005000-77008200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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