Variant report

Variant	rs9498446
Chromosome Location	chr6:101461545-101461546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10214542	0.91[AMR][1000 genomes]
rs12111331	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1337383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17061291	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28376888	0.91[AMR][1000 genomes]
rs58873286	0.91[AMR][1000 genomes]
rs59307136	0.91[AMR][1000 genomes]
rs9485431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9485435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9485445	0.91[AMR][1000 genomes]
rs9485446	0.91[AMR][1000 genomes]
rs9485450	0.91[AMR][1000 genomes]
rs9485454	0.91[AMR][1000 genomes]
rs9485464	0.91[AMR][1000 genomes]
rs9485466	0.91[AMR][1000 genomes]
rs9498436	1.00[AMR][1000 genomes]
rs9498447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9498473	0.91[AMR][1000 genomes]
rs9498475	0.91[AMR][1000 genomes]
rs9498476	0.91[AMR][1000 genomes]
rs9498479	0.91[AMR][1000 genomes]
rs9498483	0.91[AMR][1000 genomes]
rs9498486	0.91[AMR][1000 genomes]
rs9498493	0.91[AMR][1000 genomes]
rs9498506	0.91[AMR][1000 genomes]
rs9498508	0.91[AMR][1000 genomes]
rs9498512	0.91[AMR][1000 genomes]
rs9498516	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9498446	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101459800-101461800	Enhancers	Dnd41	blood
2	chr6:101459800-101462400	Weak transcription	Liver	Liver
3	chr6:101459800-101463200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:101461200-101464000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:101461400-101461800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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