Variant report

Variant	rs5997354
Chromosome Location	chr22:28709566-28709567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1072967	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16986346	0.87[ASN][1000 genomes]
rs2064360	0.81[ASN][1000 genomes]
rs28720063	0.81[ASN][1000 genomes]
rs5752718	0.90[ASN][1000 genomes]
rs5762504	0.84[ASN][1000 genomes]
rs5762506	0.81[ASN][1000 genomes]
rs5762508	0.86[ASN][1000 genomes]
rs5762540	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762568	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762632	0.83[AMR][1000 genomes]
rs5762634	0.82[ASN][1000 genomes]
rs60891699	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv526760	chr22:28706220-28719656	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28693800-28710400	Weak transcription	Fetal Stomach	stomach
2	chr22:28693800-28716000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:28694600-28711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:28696200-28711800	Weak transcription	Gastric	stomach
5	chr22:28696200-28716000	Weak transcription	Fetal Lung	lung
6	chr22:28702800-28714200	Weak transcription	Dnd41	blood
7	chr22:28705000-28710800	Weak transcription	Stomach Mucosa	stomach
8	chr22:28705000-28711200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:28708000-28711800	Weak transcription	HepG2	liver

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Input of quick search could be:

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

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