Variant report

Variant	rs72836542
Chromosome Location	chr6:14091682-14091683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1028323	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10949225	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11753410	0.93[ASN][1000 genomes]
rs12190061	0.89[ASN][1000 genomes]
rs12529514	0.97[ASN][1000 genomes]
rs12530098	0.92[ASN][1000 genomes]
rs13210531	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16874672	0.87[ASN][1000 genomes]
rs16874680	0.88[ASN][1000 genomes]
rs2235369	0.92[ASN][1000 genomes]
rs6926225	0.93[ASN][1000 genomes]
rs6929821	0.89[ASN][1000 genomes]
rs6936285	0.88[ASN][1000 genomes]
rs853357	0.88[ASN][1000 genomes]
rs9464657	0.93[ASN][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	nsv1027179	chr6:14058703-14223055	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72836542	CD83	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14088600-14103400	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:14089400-14093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:14089600-14095000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:14089600-14095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:14090200-14093600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:14090200-14093800	Weak transcription	Spleen	Spleen
7	chr6:14090400-14093000	Weak transcription	Hela-S3	cervix
8	chr6:14091200-14093200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:14091200-14094600	Flanking Active TSS	GM12878-XiMat	blood
10	chr6:14091200-14095200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:14091400-14091800	Enhancers	Adipose Nuclei	Adipose
12	chr6:14091400-14099800	Enhancers	Primary B cells from cord blood	blood

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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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