Variant report

Variant	rs8090919
Chromosome Location	chr18:9623708-9623709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11081489	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1662885	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1787165	0.90[ASN][1000 genomes]
rs1787166	1.00[ASN][1000 genomes]
rs2028661	0.89[ASN][1000 genomes]
rs2028662	0.89[ASN][1000 genomes]
rs2028663	0.89[ASN][1000 genomes]
rs2289684	0.89[ASN][1000 genomes]
rs2903504	0.86[EUR][1000 genomes]
rs329002	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329004	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329023	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs329024	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs329033	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35444634	0.89[ASN][1000 genomes]
rs428598	0.89[ASN][1000 genomes]
rs583306	0.89[ASN][1000 genomes]
rs586544	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs589559	1.00[ASN][1000 genomes]
rs599861	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610564	0.88[EUR][1000 genomes]
rs62088920	0.90[ASN][1000 genomes]
rs638578	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667695	0.89[ASN][1000 genomes]
rs671339	0.89[ASN][1000 genomes]
rs677461	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs680478	0.89[ASN][1000 genomes]
rs681297	0.89[ASN][1000 genomes]
rs683319	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs694861	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233160	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234128	1.00[ASN][1000 genomes]
rs9807577	0.81[ASN][1000 genomes]
rs9807604	0.89[ASN][1000 genomes]
rs9807610	0.86[ASN][1000 genomes]
rs9950583	1.00[ASN][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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8090919	RP11-692N5.1	cis	Nerve Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
2	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9617400-9625400	Weak transcription	HMEC	breast
5	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:9619800-9627400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:9620000-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9620000-9625600	Weak transcription	Hela-S3	cervix
9	chr18:9620000-9627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9620000-9627400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:9620000-9627600	Weak transcription	NHDF-Ad	bronchial
12	chr18:9620200-9623800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:9620200-9625200	Weak transcription	NHEK	skin
14	chr18:9620200-9625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9620200-9625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:9620200-9627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:9620200-9627400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:9620200-9627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:9620200-9627400	Weak transcription	NHLF	lung
20	chr18:9620200-9627400	Weak transcription	Osteobl	bone
21	chr18:9620800-9627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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