Variant report

Variant	rs59229212
Chromosome Location	chr9:118450845-118450846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12000417	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2157672	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56364993	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58053524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62575352	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62575356	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62575357	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62577060	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7025537	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7045256	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73517508	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7866856	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7869007	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7872752	0.81[AMR][1000 genomes]
rs982463	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs982464	0.81[AMR][1000 genomes];0.84[EUR][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	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1047164	chr9:118286742-118456851	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118439600-118453200	Weak transcription	HSMM	muscle
2	chr9:118442200-118451200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:118442400-118452800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:118443200-118452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:118449800-118452800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:118450000-118451600	Weak transcription	A549	lung
7	chr9:118450000-118452400	Weak transcription	NHEK	skin
8	chr9:118450000-118452800	Weak transcription	HMEC	breast
9	chr9:118450000-118453000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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