Variant report

Variant	rs9546690
Chromosome Location	chr13:85021947-85021948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12858430	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12874071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576543	0.89[ASN][1000 genomes]
rs1888242	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065200	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9531584	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9531585	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9531586	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9546669	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9546673	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9546674	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9546678	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9546682	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9546683	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9546685	0.91[EUR][1000 genomes]
rs9546686	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9546687	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9546688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9575567	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9602472	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs960832	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949402	chr13:84675752-85606846	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832665	chr13:84848087-85041311	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv900690	chr13:84877516-85052477	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2754893	chr13:84931199-85055599	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv456046	chr13:84971270-85262508	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv562561	chr13:84971270-85262508	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85018800-85022000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:85019000-85022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:85019400-85022200	Enhancers	HMEC	breast
4	chr13:85020000-85022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:85020200-85022200	Enhancers	Esophagus	oesophagus
6	chr13:85020600-85022000	Enhancers	NHEK	skin
7	chr13:85020600-85022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:85021000-85022600	Enhancers	Brain Germinal Matrix	brain
9	chr13:85021200-85022200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:85021400-85022600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:85021600-85022600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr13:85021800-85022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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