Variant report

Variant	rs4527833
Chromosome Location	chr8:130761644-130761645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10092783	0.89[CEU][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4144737	1.00[ASW][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs4144738	0.84[TSI][hapmap]
rs4733557	0.81[EUR][1000 genomes]
rs4733729	0.81[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4733734	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5006712	0.88[AMR][1000 genomes]
rs7822056	0.83[AMR][1000 genomes];0.89[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	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4527833	MLZE	cis	normal skin	skin_eQTL
rs4527833	GSDMC	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130754600-130766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:130755600-130764000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:130758200-130765400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:130758400-130763800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:130759200-130765800	Strong transcription	NHEK	skin
6	chr8:130759800-130765800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:130760200-130765800	Strong transcription	Esophagus	oesophagus
8	chr8:130761600-130763200	Strong transcription	Spleen	Spleen

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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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