Variant report

Variant	rs10969227
Chromosome Location	chr9:2963183-2963184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10283729	0.86[EUR][1000 genomes]
rs10969226	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10969236	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10969468	0.80[EUR][1000 genomes]
rs12335591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338836	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348135	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352961	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28585383	1.00[ASN][1000 genomes]
rs28595189	1.00[ASN][1000 genomes]
rs28657051	1.00[ASN][1000 genomes]
rs28685633	1.00[ASN][1000 genomes]
rs59086077	0.80[EUR][1000 genomes]
rs60746952	0.80[EUR][1000 genomes]
rs73385384	0.80[EUR][1000 genomes]
rs73387545	0.80[EUR][1000 genomes]
rs73387547	0.80[EUR][1000 genomes]
rs7853142	0.86[EUR][1000 genomes]
rs7863786	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1018636	chr9:2921825-3002862	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv892085	chr9:2937654-3215842	Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1019231	chr9:2959507-2988314	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2960800-2963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:2961600-2969000	Enhancers	NHDF-Ad	bronchial
3	chr9:2962200-2963200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:2962200-2963200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:2962200-2963200	Enhancers	NHEK	skin
6	chr9:2962600-2964000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:2962800-2966600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:2963000-2963600	Enhancers	Fetal Brain Male	brain

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

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