Variant report

Variant	rs7040544
Chromosome Location	chr9:18453064-18453065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10511658	1.00[AMR][1000 genomes]
rs11999281	1.00[AMR][1000 genomes]
rs12000949	1.00[AMR][1000 genomes]
rs12000950	1.00[AMR][1000 genomes]
rs12001004	1.00[AMR][1000 genomes]
rs12002126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003118	1.00[AMR][1000 genomes]
rs12003267	1.00[AMR][1000 genomes]
rs12003900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12005242	1.00[AMR][1000 genomes]
rs16936711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936775	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs16936780	1.00[AMR][1000 genomes]
rs16936815	1.00[AMR][1000 genomes]
rs1856705	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1888064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57153018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58068158	1.00[AMR][1000 genomes]
rs58526635	1.00[AMR][1000 genomes]
rs60199560	1.00[AMR][1000 genomes]
rs60288112	1.00[AMR][1000 genomes]
rs60561389	1.00[AMR][1000 genomes]
rs6475217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7019792	1.00[AMR][1000 genomes]
rs73417101	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418922	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421011	1.00[AMR][1000 genomes]
rs73421013	1.00[AMR][1000 genomes]
rs73421023	1.00[AMR][1000 genomes]
rs73421030	1.00[AMR][1000 genomes]
rs73421031	1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv892688	chr9:18385143-18551247	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	2 gene(s)	inside rSNPs	diseases
6	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18443200-18457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:18447600-18456000	Weak transcription	NHEK	skin
3	chr9:18448400-18456800	Weak transcription	NHLF	lung
4	chr9:18450800-18454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:18451000-18453400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:18451000-18453400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:18451000-18454200	Enhancers	NHDF-Ad	bronchial
8	chr9:18452000-18453200	Weak transcription	Esophagus	oesophagus
9	chr9:18452200-18455800	Weak transcription	Liver	Liver
10	chr9:18452800-18453200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:18453000-18453400	ZNF genes & repeats	Aorta	Aorta
12	chr9:18453000-18453800	Enhancers	Stomach Mucosa	stomach
13	chr9:18453000-18456600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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