Variant report

Variant	rs28595189
Chromosome Location	chr9:2967578-2967579
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10969226	1.00[ASN][1000 genomes]
rs10969227	1.00[ASN][1000 genomes]
rs10969236	1.00[ASN][1000 genomes]
rs12335591	1.00[ASN][1000 genomes]
rs12338836	1.00[ASN][1000 genomes]
rs12348135	1.00[ASN][1000 genomes]
rs12352961	1.00[ASN][1000 genomes]
rs28585383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28657051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863786	1.00[ASN][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	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
7	esv2757302	chr9:2965090-2985743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2759657	chr9:2965090-2985743	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2961600-2969000	Enhancers	NHDF-Ad	bronchial
2	chr9:2963200-2968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:2966400-2967800	Enhancers	Fetal Brain Female	brain
4	chr9:2966400-2968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:2966400-2968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:2966400-2968400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:2966400-2968400	Enhancers	Adipose Nuclei	Adipose
8	chr9:2966600-2967800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:2966600-2967800	Enhancers	Brain Germinal Matrix	brain
10	chr9:2967000-2968000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:2967200-2967600	Enhancers	Brain Substantia Nigra	brain
12	chr9:2967200-2968000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:2967200-2968400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:2967400-2967800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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