Variant report

Variant	rs28786708
Chromosome Location	chr17:38361679-38361680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34394173	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35085163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45443194	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55673000	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56304903	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56357916	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7221536	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73306870	0.97[AMR][1000 genomes];0.98[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs28786708	MSL1	cis	Nerve Tibial	GTEx
rs28786708	MSL1	cis	Thyroid	GTEx
rs28786708	MSL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38358400-38362400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:38359600-38365400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:38359600-38365600	Weak transcription	NHDF-Ad	bronchial
4	chr17:38361000-38363600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:38361000-38364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:38361000-38365400	Weak transcription	Osteobl	bone
7	chr17:38361200-38362400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:38361200-38363000	Weak transcription	HepG2	liver

Quick Search:

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

what's new

Quick links