Variant report

Variant	rs56283997
Chromosome Location	chr5:106658698-106658699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10515370	1.00[ASN][1000 genomes]
rs10515372	1.00[ASN][1000 genomes]
rs11948860	1.00[ASN][1000 genomes]
rs13163748	1.00[ASN][1000 genomes]
rs13165897	1.00[ASN][1000 genomes]
rs13167605	1.00[ASN][1000 genomes]
rs13169680	1.00[ASN][1000 genomes]
rs13179809	1.00[ASN][1000 genomes]
rs13184636	1.00[ASN][1000 genomes]
rs13184643	1.00[ASN][1000 genomes]
rs13184806	1.00[ASN][1000 genomes]
rs13186418	1.00[ASN][1000 genomes]
rs17159641	1.00[ASN][1000 genomes]
rs17159727	1.00[ASN][1000 genomes]
rs17159745	1.00[ASN][1000 genomes]
rs17159751	1.00[ASN][1000 genomes]
rs17343335	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17343762	1.00[ASN][1000 genomes]
rs17400404	1.00[ASN][1000 genomes]
rs17402238	1.00[ASN][1000 genomes]
rs17403350	1.00[ASN][1000 genomes]
rs1895462	1.00[ASN][1000 genomes]
rs35709847	1.00[ASN][1000 genomes]
rs35740714	1.00[ASN][1000 genomes]
rs35748495	1.00[ASN][1000 genomes]
rs35775035	1.00[ASN][1000 genomes]
rs55849939	1.00[ASN][1000 genomes]
rs60635486	1.00[ASN][1000 genomes]
rs66460437	1.00[ASN][1000 genomes]
rs67504033	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67878207	0.88[AMR][1000 genomes]
rs6897756	1.00[ASN][1000 genomes]
rs72784111	1.00[ASN][1000 genomes]
rs72784113	1.00[ASN][1000 genomes]
rs765075	1.00[ASN][1000 genomes]
rs7701101	1.00[ASN][1000 genomes]
rs7711216	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv517277	chr5:106653325-106660530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106655600-106662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:106656200-106659200	Enhancers	Fetal Lung	lung
3	chr5:106656600-106663200	Weak transcription	Fetal Stomach	stomach
4	chr5:106657600-106661600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:106658000-106659000	Enhancers	HUVEC	blood vessel
6	chr5:106658000-106659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:106658200-106659200	Weak transcription	NHEK	skin
8	chr5:106658200-106659400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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