Variant report

Variant	rs12794463
Chromosome Location	chr11:8555285-8555286
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1026021	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10840057	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12787407	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12791925	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12791928	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12792543	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16938253	0.92[ASN][1000 genomes]
rs2311392	0.92[ASN][1000 genomes]
rs34059271	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34322531	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34413282	0.91[ASN][1000 genomes]
rs34413622	0.91[ASN][1000 genomes]
rs35091649	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35807094	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67191473	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7952429	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[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	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12794463	STK33	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8551000-8555800	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:8553000-8555600	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:8554800-8555400	Enhancers	HMEC	breast
4	chr11:8554800-8555600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:8554800-8555600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:8554800-8555600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:8554800-8555600	Enhancers	NHEK	skin
8	chr11:8555200-8555400	Enhancers	Duodenum Smooth Muscle	Duodenum

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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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