Variant report

Variant	rs62363047
Chromosome Location	chr5:76052363-76052364
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:11)

rs_ID	r²[population]
rs2047076	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62363041	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62363042	0.83[EUR][1000 genomes]
rs62363044	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62363046	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62365092	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62365093	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365094	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365096	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62365097	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761073	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:76047400-76052600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:76051000-76054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:76051000-76054400	Weak transcription	NHEK	skin
4	chr5:76051000-76056600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:76051200-76054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:76051600-76052400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:76051800-76053000	Active TSS	HepG2	liver
8	chr5:76052000-76052600	Enhancers	Stomach Mucosa	stomach
9	chr5:76052200-76052400	Enhancers	K562	blood
10	chr5:76052200-76052600	Enhancers	A549	lung
11	chr5:76052200-76052800	Active TSS	Liver	Liver

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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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