Variant report

Variant	rs8189619
Chromosome Location	chr9:12866652-12866653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11172718	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11172728	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11172889	0.81[EUR][1000 genomes]
rs11173310	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173533	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11173567	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11495470	0.80[AMR][1000 genomes]
rs11495518	0.81[AMR][1000 genomes]
rs11495519	0.83[AMR][1000 genomes]
rs11495520	0.83[AMR][1000 genomes]
rs11495540	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11495567	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11495590	0.81[AMR][1000 genomes]
rs11514225	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11519862	0.82[AMR][1000 genomes]
rs12369089	0.83[AMR][1000 genomes]
rs12370288	0.83[AMR][1000 genomes]
rs12830388	0.81[AMR][1000 genomes]
rs2132209	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2172856	0.87[AMR][1000 genomes]
rs2220902	0.88[AMR][1000 genomes]
rs2386995	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2387018	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2387041	0.81[AMR][1000 genomes]
rs2703688	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4397954	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4608149	0.83[AMR][1000 genomes]
rs7295310	0.81[AMR][1000 genomes]
rs7305703	0.80[AMR][1000 genomes]
rs7310307	0.83[AMR][1000 genomes]
rs8189621	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8189628	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv892573	chr9:12730636-12874703	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS 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	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv613615	chr9:12830070-12947238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12851800-12867000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:12861400-12868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:12863400-12874600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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