Variant report

Variant	rs55817693
Chromosome Location	chr9:6099180-6099181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10815349	0.94[ASN][1000 genomes]
rs10815350	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10975425	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10975426	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10975436	0.96[ASN][1000 genomes]
rs10975437	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10975441	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10975446	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10975451	0.87[ASN][1000 genomes]
rs10975454	0.84[ASN][1000 genomes]
rs11526367	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793017	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1411341	0.94[ASN][1000 genomes]
rs2069264	0.87[ASN][1000 genomes]
rs2104758	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149980	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2183352	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340889	0.84[ASN][1000 genomes]
rs4740837	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4740839	0.93[ASN][1000 genomes]
rs57993622	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6477037	0.94[ASN][1000 genomes]
rs6477040	0.87[ASN][1000 genomes]
rs67217130	0.90[ASN][1000 genomes]
rs67478282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68075537	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7024136	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7024235	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7024340	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7024677	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7040888	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7043663	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7048296	0.91[ASN][1000 genomes]
rs7856231	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7869061	0.96[ASN][1000 genomes]
rs7869064	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7869888	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv613205	chr9:6032924-6332901	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv916394	chr9:6055497-6322471	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2761482	chr9:6084602-6134787	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892157	chr9:6093790-6322415	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6096400-6099400	Enhancers	NHEK	skin
2	chr9:6096400-6100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:6096400-6100200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:6096400-6100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:6096400-6100400	Enhancers	HMEC	breast
6	chr9:6096600-6099200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:6096600-6099200	Enhancers	NHDF-Ad	bronchial
8	chr9:6096600-6100200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:6098000-6099200	Enhancers	HUVEC	blood vessel
10	chr9:6098400-6101800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:6098400-6102400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:6098800-6101000	Weak transcription	Hela-S3	cervix
13	chr9:6098800-6101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:6098800-6105200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:6099000-6100200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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