Variant report

Variant	rs134540
Chromosome Location	chr22:28790289-28790290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58936636	1.00[AMR][1000 genomes]
rs59773331	1.00[AMR][1000 genomes]
rs60155737	1.00[AMR][1000 genomes]
rs73881118	1.00[AMR][1000 genomes]
rs73882711	1.00[AMR][1000 genomes]
rs73882720	1.00[AMR][1000 genomes]
rs73882721	1.00[AMR][1000 genomes]
rs73882748	1.00[AMR][1000 genomes]
rs73882756	1.00[AMR][1000 genomes]
rs73882764	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28789400-28790600	Enhancers	Brain Germinal Matrix	brain
2	chr22:28789600-28790600	Weak transcription	Fetal Stomach	stomach
3	chr22:28789600-28791400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:28789600-28794000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:28789800-28791600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:28789800-28791800	Weak transcription	Dnd41	blood
7	chr22:28789800-28794600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28789800-28794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:28789800-28796200	Enhancers	Fetal Lung	lung
10	chr22:28790000-28791400	Enhancers	Fetal Muscle Leg	muscle
11	chr22:28790200-28791400	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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