Variant report

Variant	rs73648039
Chromosome Location	chr9:13817907-13817908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1443851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16930940	0.96[EUR][1000 genomes]
rs28694178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57947035	0.82[AFR][1000 genomes]
rs73648038	1.00[AFR][1000 genomes]
rs966480	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv892591	chr9:13763734-13828594	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv892592	chr9:13787648-13859052	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13814600-13818000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:13816600-13818000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:13816600-13818000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:13816600-13818000	Enhancers	HSMM	muscle
5	chr9:13816600-13818600	Enhancers	HSMMtube	muscle
6	chr9:13816800-13818000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr9:13816800-13818000	Enhancers	NHEK	skin
8	chr9:13817000-13818000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:13817000-13818000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:13817000-13818200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:13817200-13818200	Enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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